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Erratum to: Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders, Brain Communications, Volume 3, Issue 1, 2021, fcaa236, https://doi.org/10.1093/braincomms/fcaa236
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Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Andrew Biggin, Hugo Morales-Briceño, Robert Goetti, Belen Perez-Dueñas, Allison Gregory, Penelope Hogarth, Joanne Ng, Apostolos Papandreou, Kaustuv Bhattacharya, Shamima Rahman, Kristina Prelog, Richard I. Webster, Evangeline Wassmer, Susan Hayflick, John Livingston, Manju Kurian, W. Kling Chong and Russell C. Dale; Basal Ganglia MRI Study Group. Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders. Brain Communications 2020. doi:10.1093/braincomms/fcaa178.
In the above article, Table 2. has been updated as follows online:
Previous version:
Table 2
Selected MRI changes and clinical features that aid narrowing down diagnostic differentials for disorders with MRI basal ganglia changes.
| . | MRI / Clinical feature . | Diagnostic differential . |
|---|---|---|
| A | Calcification accompanying brain iron deposition | BPAN |
| CoPAN | ||
| PKAN | ||
| SQSTM1 | ||
| B | Cerebellar atrophy with increased basal ganglia susceptibility | Aceruloplasminemia |
| AFG3L2 | ||
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| BPAN | ||
| Choline transporter-like 1 deficiency (SLC44A1) | ||
| Congenital disorder of glycosylation, type IIn (SLC39A8) | ||
| Cockayne syndrome | ||
| FAHN | ||
| Fucosidosis | ||
| GM1 and GM2 Gangliosidoses | ||
| GTPBP2 | ||
| Kufor Rakeb syndrome | ||
| Langerhans cell histiocytosis | ||
| MPAN | ||
| Mucolipidosis type IV | ||
| Neuroferritinopathy | ||
| PKAN | ||
| PLAN | ||
| REPS1 | ||
| SQSTM1 | ||
| TUBB4A | ||
| C | Cerebellar atrophy with basal ganglia T2W hyperintensity | AFG3L2 |
| Aspartylglucosaminuria | ||
| DNAJC19 | ||
| GM1 and GM2 Gangliosidoses | ||
| L-2-OH-glutaric aciduria | ||
| MEGDEL | ||
| Mitochondrial disorders (various) | ||
| PDHC | ||
| Sequelae of infectious encephalitis | ||
| SSADH | ||
| UFM1 | ||
| VPS13D | ||
| Wilson’s disease | ||
| D | Corticospinal tract T2W hyperintensity | 3-HMG-CoA lyase deficiency |
| CP | ||
| Cerebrotendinous xanthomatosis | ||
| Krabbe disease | ||
| SLC19A3 | ||
| VPS13D | ||
| E | Dentate T2W hyperintensities | 3-HMG-COA Lyase deficiency |
| ADEM | ||
| Alexander disease | ||
| Arboviral encephalitis | ||
| Beta ketothiolase deficiency | ||
| Canavan disease | ||
| Cerebrotendinous xanthomatosis | ||
| Giant axonal neuropathy | ||
| Glutaric aciduria type 1 | ||
| Kearns Sayre syndrome | ||
| Kernicterus | ||
| Krabbe disease | ||
| L-2-OH-glutaric aciduria | ||
| Langerhans cell histiocytosis | ||
| Maple syrup urine disease | ||
| MEGDEL | ||
| MMA | ||
| Mitochondrial disorders (various) | ||
| Neuroferritinopathy | ||
| PDHC | ||
| Propionic acidaemia | ||
| SLC19A3 | ||
| SSADH | ||
| Sulfite oxidase and molybdenum cofactor deficiency | ||
| Vigabatrin toxicity | ||
| Wilson's disease | ||
| F | Hypomyelination with increased basal ganglia susceptibility | BPAN |
| ADAR | ||
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| Cockayne syndrome | ||
| Fucosidosis | ||
| GM1 and GM2 Gangliosidoses | ||
| Idiopathic basal ganglia calcification | ||
| Mucolipidosis type IV | ||
| TUBB4A | ||
| G | Hypomyelination with basal ganglia T2W hyperintensity | 3-HMG-COA Lyase deficiency |
| Alexander disease | ||
| Canavan disease | ||
| Cerebral creatine deficiency syndromes | ||
| GM1 and GM2 Gangliosidoses | ||
| Glutaric aciduria type 1 | ||
| Methylmalonic acidaemia | ||
| Mitochondrial disorders (various - particularly Complex 1 deficiency) | ||
| POLR3A | ||
| Propionic acidaemia | ||
| SSADH | ||
| UFM1 | ||
| H | Hypothalamus T2W hyperintensity | ADEM |
| ANE | ||
| Kearns Sayre syndrome | ||
| Langerhans cell histiocytosis | ||
| LHON | ||
| ADEM (NMO spectrum disorder) | ||
| PDHC | ||
| Vigabatrin toxicity | ||
| Fucosidosis | ||
| Hypothalamus T1W hyperintensity | Manganese toxicity | |
| Liver failure (likely due to secondary manganese accumulation) | ||
| I | Mainly pallidal T2W hyperintensity without striatal abnormalities | 3-HMG-COA Lyase deficiency |
| Canavan disease | ||
| Cerebrotendinous xanthomatosis | ||
| Carbon monoxide poisoning | ||
| Creatine deficiency syndromes - monogenic and secondary | ||
| Isovaleric acidaemia | ||
| Kearns Sayre syndrome | ||
| Kernicterus | ||
| Krabbe disease | ||
| MMA | ||
| PDHC | ||
| SSADH | ||
| Vigabatrin toxicity | ||
| J | Optic atrophy with increased basal ganglia susceptibility | AP4 deficiency |
| FAHN | ||
| Kufor Rakeb syndrome | ||
| MPAN | ||
| PLAN | ||
| K | Optic atrophy with basal ganglia T2W hyperintensity | Giant axonal neuropathy |
| Mitochondrial disorders - LHON and others | ||
| MECR | ||
| Methanol toxicity | ||
| NUP62 | ||
| L | Optic tract/chiasm thickening | ADEM (NMO spectrum disorder) |
| Alexander disease | ||
| Krabbe disease | ||
| LHON | ||
| M | Pituitary signal change/atrophy | Langerhans cell histiocytosis |
| SLC30A10 | ||
| SLC39A14 | ||
| Woodhouse Sakati syndrome | ||
| N | Short stature/poor growth | 3-HMG-COA Lyase deficiency |
| AP4 deficiency | ||
| Choline transporter-like 1 deficiency (SLC44A1) | ||
| Cockayne syndrome | ||
| KMT2B | ||
| Mitochondrial disorders | ||
| O | Retinopathy | 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency |
| Aceruloplasminemia | ||
| BPAN | ||
| Kearns Sayre syndrome | ||
| Methanol toxicity | ||
| Mitochondrial disorders (various) | ||
| Mucolipidosis type IV | ||
| PKAN | ||
| VAC14 | ||
| P | Rim of T2W hyperintensity around the putamen | ADEM |
| ANE | ||
| BGE | ||
| Encephalitis – Arboviruses | ||
| Gangliosidoses | ||
| Metabolic acidosis | ||
| Myelinolysis | ||
| Propionic acidaemia | ||
| SLC19A3 | ||
| Uraemia | ||
| Wilson’s disease | ||
| Q | Sensorineural hearing loss | 3-HMG-COA lyase deficiency |
| Alpha mannosidosis | ||
| Cockayne syndrome | ||
| Kernicterus | ||
| MEGDEL | ||
| Metachromatic leukodystrophy | ||
| SCP2 | ||
| Mitochondrial disorders (various) | ||
| Woodhouse Sakati syndrome | ||
| R | Increased striatal susceptibility | Aceruloplasminemia |
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| Basal ganglia calcification | ||
| Kufor Rakeb syndrome | ||
| Multiple system atrophy | ||
| Mucolipidosis type IV | ||
| Neuroferritinopathy | ||
| SLC30A10 | ||
| SQSTM1 | ||
| Wilson’s disease | ||
| S | T1W hyperintensities in the basal ganglia - Diffuse | Ephedrine toxicity |
| Hypermanganesemia – TPN, environmental | ||
| SLC30A10 | ||
| SLC39A14 | ||
| Wilson’s disease (particularly with porto-systemic shunt) | ||
| In association with increased basal ganglia susceptibility (less hyperintense than disorders with manganese accumulation) | ||
| T | T1W hyperintensities in the basal ganglia - Patchy | Basal ganglia calcification |
| Carbon monoxide poisoning | ||
| Cyanide poisoning | ||
| PDE8B | ||
| Sequelae of inflammatory disorders | ||
| U | T2W hypointensities in the thalamus | Alpha mannosidosis |
| Aspartylglucosaminuria | ||
| Fucosidosis | ||
| Gangliosidoses | ||
| Metachromatic leukodystrophy |
| . | MRI / Clinical feature . | Diagnostic differential . |
|---|---|---|
| A | Calcification accompanying brain iron deposition | BPAN |
| CoPAN | ||
| PKAN | ||
| SQSTM1 | ||
| B | Cerebellar atrophy with increased basal ganglia susceptibility | Aceruloplasminemia |
| AFG3L2 | ||
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| BPAN | ||
| Choline transporter-like 1 deficiency (SLC44A1) | ||
| Congenital disorder of glycosylation, type IIn (SLC39A8) | ||
| Cockayne syndrome | ||
| FAHN | ||
| Fucosidosis | ||
| GM1 and GM2 Gangliosidoses | ||
| GTPBP2 | ||
| Kufor Rakeb syndrome | ||
| Langerhans cell histiocytosis | ||
| MPAN | ||
| Mucolipidosis type IV | ||
| Neuroferritinopathy | ||
| PKAN | ||
| PLAN | ||
| REPS1 | ||
| SQSTM1 | ||
| TUBB4A | ||
| C | Cerebellar atrophy with basal ganglia T2W hyperintensity | AFG3L2 |
| Aspartylglucosaminuria | ||
| DNAJC19 | ||
| GM1 and GM2 Gangliosidoses | ||
| L-2-OH-glutaric aciduria | ||
| MEGDEL | ||
| Mitochondrial disorders (various) | ||
| PDHC | ||
| Sequelae of infectious encephalitis | ||
| SSADH | ||
| UFM1 | ||
| VPS13D | ||
| Wilson’s disease | ||
| D | Corticospinal tract T2W hyperintensity | 3-HMG-CoA lyase deficiency |
| CP | ||
| Cerebrotendinous xanthomatosis | ||
| Krabbe disease | ||
| SLC19A3 | ||
| VPS13D | ||
| E | Dentate T2W hyperintensities | 3-HMG-COA Lyase deficiency |
| ADEM | ||
| Alexander disease | ||
| Arboviral encephalitis | ||
| Beta ketothiolase deficiency | ||
| Canavan disease | ||
| Cerebrotendinous xanthomatosis | ||
| Giant axonal neuropathy | ||
| Glutaric aciduria type 1 | ||
| Kearns Sayre syndrome | ||
| Kernicterus | ||
| Krabbe disease | ||
| L-2-OH-glutaric aciduria | ||
| Langerhans cell histiocytosis | ||
| Maple syrup urine disease | ||
| MEGDEL | ||
| MMA | ||
| Mitochondrial disorders (various) | ||
| Neuroferritinopathy | ||
| PDHC | ||
| Propionic acidaemia | ||
| SLC19A3 | ||
| SSADH | ||
| Sulfite oxidase and molybdenum cofactor deficiency | ||
| Vigabatrin toxicity | ||
| Wilson's disease | ||
| F | Hypomyelination with increased basal ganglia susceptibility | BPAN |
| ADAR | ||
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| Cockayne syndrome | ||
| Fucosidosis | ||
| GM1 and GM2 Gangliosidoses | ||
| Idiopathic basal ganglia calcification | ||
| Mucolipidosis type IV | ||
| TUBB4A | ||
| G | Hypomyelination with basal ganglia T2W hyperintensity | 3-HMG-COA Lyase deficiency |
| Alexander disease | ||
| Canavan disease | ||
| Cerebral creatine deficiency syndromes | ||
| GM1 and GM2 Gangliosidoses | ||
| Glutaric aciduria type 1 | ||
| Methylmalonic acidaemia | ||
| Mitochondrial disorders (various - particularly Complex 1 deficiency) | ||
| POLR3A | ||
| Propionic acidaemia | ||
| SSADH | ||
| UFM1 | ||
| H | Hypothalamus T2W hyperintensity | ADEM |
| ANE | ||
| Kearns Sayre syndrome | ||
| Langerhans cell histiocytosis | ||
| LHON | ||
| ADEM (NMO spectrum disorder) | ||
| PDHC | ||
| Vigabatrin toxicity | ||
| Fucosidosis | ||
| Hypothalamus T1W hyperintensity | Manganese toxicity | |
| Liver failure (likely due to secondary manganese accumulation) | ||
| I | Mainly pallidal T2W hyperintensity without striatal abnormalities | 3-HMG-COA Lyase deficiency |
| Canavan disease | ||
| Cerebrotendinous xanthomatosis | ||
| Carbon monoxide poisoning | ||
| Creatine deficiency syndromes - monogenic and secondary | ||
| Isovaleric acidaemia | ||
| Kearns Sayre syndrome | ||
| Kernicterus | ||
| Krabbe disease | ||
| MMA | ||
| PDHC | ||
| SSADH | ||
| Vigabatrin toxicity | ||
| J | Optic atrophy with increased basal ganglia susceptibility | AP4 deficiency |
| FAHN | ||
| Kufor Rakeb syndrome | ||
| MPAN | ||
| PLAN | ||
| K | Optic atrophy with basal ganglia T2W hyperintensity | Giant axonal neuropathy |
| Mitochondrial disorders - LHON and others | ||
| MECR | ||
| Methanol toxicity | ||
| NUP62 | ||
| L | Optic tract/chiasm thickening | ADEM (NMO spectrum disorder) |
| Alexander disease | ||
| Krabbe disease | ||
| LHON | ||
| M | Pituitary signal change/atrophy | Langerhans cell histiocytosis |
| SLC30A10 | ||
| SLC39A14 | ||
| Woodhouse Sakati syndrome | ||
| N | Short stature/poor growth | 3-HMG-COA Lyase deficiency |
| AP4 deficiency | ||
| Choline transporter-like 1 deficiency (SLC44A1) | ||
| Cockayne syndrome | ||
| KMT2B | ||
| Mitochondrial disorders | ||
| O | Retinopathy | 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency |
| Aceruloplasminemia | ||
| BPAN | ||
| Kearns Sayre syndrome | ||
| Methanol toxicity | ||
| Mitochondrial disorders (various) | ||
| Mucolipidosis type IV | ||
| PKAN | ||
| VAC14 | ||
| P | Rim of T2W hyperintensity around the putamen | ADEM |
| ANE | ||
| BGE | ||
| Encephalitis – Arboviruses | ||
| Gangliosidoses | ||
| Metabolic acidosis | ||
| Myelinolysis | ||
| Propionic acidaemia | ||
| SLC19A3 | ||
| Uraemia | ||
| Wilson’s disease | ||
| Q | Sensorineural hearing loss | 3-HMG-COA lyase deficiency |
| Alpha mannosidosis | ||
| Cockayne syndrome | ||
| Kernicterus | ||
| MEGDEL | ||
| Metachromatic leukodystrophy | ||
| SCP2 | ||
| Mitochondrial disorders (various) | ||
| Woodhouse Sakati syndrome | ||
| R | Increased striatal susceptibility | Aceruloplasminemia |
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| Basal ganglia calcification | ||
| Kufor Rakeb syndrome | ||
| Multiple system atrophy | ||
| Mucolipidosis type IV | ||
| Neuroferritinopathy | ||
| SLC30A10 | ||
| SQSTM1 | ||
| Wilson’s disease | ||
| S | T1W hyperintensities in the basal ganglia - Diffuse | Ephedrine toxicity |
| Hypermanganesemia – TPN, environmental | ||
| SLC30A10 | ||
| SLC39A14 | ||
| Wilson’s disease (particularly with porto-systemic shunt) | ||
| In association with increased basal ganglia susceptibility (less hyperintense than disorders with manganese accumulation) | ||
| T | T1W hyperintensities in the basal ganglia - Patchy | Basal ganglia calcification |
| Carbon monoxide poisoning | ||
| Cyanide poisoning | ||
| PDE8B | ||
| Sequelae of inflammatory disorders | ||
| U | T2W hypointensities in the thalamus | Alpha mannosidosis |
| Aspartylglucosaminuria | ||
| Fucosidosis | ||
| Gangliosidoses | ||
| Metachromatic leukodystrophy |
Abbreviations: ADEM – acute disseminated encephalomyelitis, ANE – Acute necrotizing encephalopathy, BGE – autoimmune basal ganglia encephalitis, BPAN-Beta propeller protein associated degeneration, CoPAN- COASY protein associated neurodegeneration, CP – Cerebral palsy (due to hypoxic ischaemic encephalopathy in term babies), FAHN – FA2H associated neurodegeneration, LHON – Leber’s hereditary optic neuropathy, MEGDEL – 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome, MMA – methyl malonic acidaemia, MPAN – mitochondrial membrane protein associated neurodegeneration, NMO – neuromyelitis optica spectrum disorder, PDHC – pyruvate dehydrogenase complex deficiency, PKAN – Panthothenate kinase associated degeneration, PLAN – PLA2G6 associated neurodegeneration, SSADH – succinic semialdehyde dehydrogenase deficiency
Table 2
Selected MRI changes and clinical features that aid narrowing down diagnostic differentials for disorders with MRI basal ganglia changes.
| . | MRI / Clinical feature . | Diagnostic differential . |
|---|---|---|
| A | Calcification accompanying brain iron deposition | BPAN |
| CoPAN | ||
| PKAN | ||
| SQSTM1 | ||
| B | Cerebellar atrophy with increased basal ganglia susceptibility | Aceruloplasminemia |
| AFG3L2 | ||
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| BPAN | ||
| Choline transporter-like 1 deficiency (SLC44A1) | ||
| Congenital disorder of glycosylation, type IIn (SLC39A8) | ||
| Cockayne syndrome | ||
| FAHN | ||
| Fucosidosis | ||
| GM1 and GM2 Gangliosidoses | ||
| GTPBP2 | ||
| Kufor Rakeb syndrome | ||
| Langerhans cell histiocytosis | ||
| MPAN | ||
| Mucolipidosis type IV | ||
| Neuroferritinopathy | ||
| PKAN | ||
| PLAN | ||
| REPS1 | ||
| SQSTM1 | ||
| TUBB4A | ||
| C | Cerebellar atrophy with basal ganglia T2W hyperintensity | AFG3L2 |
| Aspartylglucosaminuria | ||
| DNAJC19 | ||
| GM1 and GM2 Gangliosidoses | ||
| L-2-OH-glutaric aciduria | ||
| MEGDEL | ||
| Mitochondrial disorders (various) | ||
| PDHC | ||
| Sequelae of infectious encephalitis | ||
| SSADH | ||
| UFM1 | ||
| VPS13D | ||
| Wilson’s disease | ||
| D | Corticospinal tract T2W hyperintensity | 3-HMG-CoA lyase deficiency |
| CP | ||
| Cerebrotendinous xanthomatosis | ||
| Krabbe disease | ||
| SLC19A3 | ||
| VPS13D | ||
| E | Dentate T2W hyperintensities | 3-HMG-COA Lyase deficiency |
| ADEM | ||
| Alexander disease | ||
| Arboviral encephalitis | ||
| Beta ketothiolase deficiency | ||
| Canavan disease | ||
| Cerebrotendinous xanthomatosis | ||
| Giant axonal neuropathy | ||
| Glutaric aciduria type 1 | ||
| Kearns Sayre syndrome | ||
| Kernicterus | ||
| Krabbe disease | ||
| L-2-OH-glutaric aciduria | ||
| Langerhans cell histiocytosis | ||
| Maple syrup urine disease | ||
| MEGDEL | ||
| MMA | ||
| Mitochondrial disorders (various) | ||
| Neuroferritinopathy | ||
| PDHC | ||
| Propionic acidaemia | ||
| SLC19A3 | ||
| SSADH | ||
| Sulfite oxidase and molybdenum cofactor deficiency | ||
| Vigabatrin toxicity | ||
| Wilson's disease | ||
| F | Hypomyelination with increased basal ganglia susceptibility | BPAN |
| ADAR | ||
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| Cockayne syndrome | ||
| Fucosidosis | ||
| GM1 and GM2 Gangliosidoses | ||
| Idiopathic basal ganglia calcification | ||
| Mucolipidosis type IV | ||
| TUBB4A | ||
| G | Hypomyelination with basal ganglia T2W hyperintensity | 3-HMG-COA Lyase deficiency |
| Alexander disease | ||
| Canavan disease | ||
| Cerebral creatine deficiency syndromes | ||
| GM1 and GM2 Gangliosidoses | ||
| Glutaric aciduria type 1 | ||
| Methylmalonic acidaemia | ||
| Mitochondrial disorders (various - particularly Complex 1 deficiency) | ||
| POLR3A | ||
| Propionic acidaemia | ||
| SSADH | ||
| UFM1 | ||
| H | Hypothalamus T2W hyperintensity | ADEM |
| ANE | ||
| Kearns Sayre syndrome | ||
| Langerhans cell histiocytosis | ||
| LHON | ||
| ADEM (NMO spectrum disorder) | ||
| PDHC | ||
| Vigabatrin toxicity | ||
| Fucosidosis | ||
| Hypothalamus T1W hyperintensity | Manganese toxicity | |
| Liver failure (likely due to secondary manganese accumulation) | ||
| I | Mainly pallidal T2W hyperintensity without striatal abnormalities | 3-HMG-COA Lyase deficiency |
| Canavan disease | ||
| Cerebrotendinous xanthomatosis | ||
| Carbon monoxide poisoning | ||
| Creatine deficiency syndromes - monogenic and secondary | ||
| Isovaleric acidaemia | ||
| Kearns Sayre syndrome | ||
| Kernicterus | ||
| Krabbe disease | ||
| MMA | ||
| PDHC | ||
| SSADH | ||
| Vigabatrin toxicity | ||
| J | Optic atrophy with increased basal ganglia susceptibility | AP4 deficiency |
| FAHN | ||
| Kufor Rakeb syndrome | ||
| MPAN | ||
| PLAN | ||
| K | Optic atrophy with basal ganglia T2W hyperintensity | Giant axonal neuropathy |
| Mitochondrial disorders - LHON and others | ||
| MECR | ||
| Methanol toxicity | ||
| NUP62 | ||
| L | Optic tract/chiasm thickening | ADEM (NMO spectrum disorder) |
| Alexander disease | ||
| Krabbe disease | ||
| LHON | ||
| M | Pituitary signal change/atrophy | Langerhans cell histiocytosis |
| SLC30A10 | ||
| SLC39A14 | ||
| Woodhouse Sakati syndrome | ||
| N | Short stature/poor growth | 3-HMG-COA Lyase deficiency |
| AP4 deficiency | ||
| Choline transporter-like 1 deficiency (SLC44A1) | ||
| Cockayne syndrome | ||
| KMT2B | ||
| Mitochondrial disorders | ||
| O | Retinopathy | 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency |
| Aceruloplasminemia | ||
| BPAN | ||
| Kearns Sayre syndrome | ||
| Methanol toxicity | ||
| Mitochondrial disorders (various) | ||
| Mucolipidosis type IV | ||
| PKAN | ||
| VAC14 | ||
| P | Rim of T2W hyperintensity around the putamen | ADEM |
| ANE | ||
| BGE | ||
| Encephalitis – Arboviruses | ||
| Gangliosidoses | ||
| Metabolic acidosis | ||
| Myelinolysis | ||
| Propionic acidaemia | ||
| SLC19A3 | ||
| Uraemia | ||
| Wilson’s disease | ||
| Q | Sensorineural hearing loss | 3-HMG-COA lyase deficiency |
| Alpha mannosidosis | ||
| Cockayne syndrome | ||
| Kernicterus | ||
| MEGDEL | ||
| Metachromatic leukodystrophy | ||
| SCP2 | ||
| Mitochondrial disorders (various) | ||
| Woodhouse Sakati syndrome | ||
| R | Increased striatal susceptibility | Aceruloplasminemia |
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| Basal ganglia calcification | ||
| Kufor Rakeb syndrome | ||
| Multiple system atrophy | ||
| Mucolipidosis type IV | ||
| Neuroferritinopathy | ||
| SLC30A10 | ||
| SQSTM1 | ||
| Wilson’s disease | ||
| S | T1W hyperintensities in the basal ganglia - Diffuse | Ephedrine toxicity |
| Hypermanganesemia – TPN, environmental | ||
| SLC30A10 | ||
| SLC39A14 | ||
| Wilson’s disease (particularly with porto-systemic shunt) | ||
| In association with increased basal ganglia susceptibility (less hyperintense than disorders with manganese accumulation) | ||
| T | T1W hyperintensities in the basal ganglia - Patchy | Basal ganglia calcification |
| Carbon monoxide poisoning | ||
| Cyanide poisoning | ||
| PDE8B | ||
| Sequelae of inflammatory disorders | ||
| U | T2W hypointensities in the thalamus | Alpha mannosidosis |
| Aspartylglucosaminuria | ||
| Fucosidosis | ||
| Gangliosidoses | ||
| Metachromatic leukodystrophy |
| . | MRI / Clinical feature . | Diagnostic differential . |
|---|---|---|
| A | Calcification accompanying brain iron deposition | BPAN |
| CoPAN | ||
| PKAN | ||
| SQSTM1 | ||
| B | Cerebellar atrophy with increased basal ganglia susceptibility | Aceruloplasminemia |
| AFG3L2 | ||
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| BPAN | ||
| Choline transporter-like 1 deficiency (SLC44A1) | ||
| Congenital disorder of glycosylation, type IIn (SLC39A8) | ||
| Cockayne syndrome | ||
| FAHN | ||
| Fucosidosis | ||
| GM1 and GM2 Gangliosidoses | ||
| GTPBP2 | ||
| Kufor Rakeb syndrome | ||
| Langerhans cell histiocytosis | ||
| MPAN | ||
| Mucolipidosis type IV | ||
| Neuroferritinopathy | ||
| PKAN | ||
| PLAN | ||
| REPS1 | ||
| SQSTM1 | ||
| TUBB4A | ||
| C | Cerebellar atrophy with basal ganglia T2W hyperintensity | AFG3L2 |
| Aspartylglucosaminuria | ||
| DNAJC19 | ||
| GM1 and GM2 Gangliosidoses | ||
| L-2-OH-glutaric aciduria | ||
| MEGDEL | ||
| Mitochondrial disorders (various) | ||
| PDHC | ||
| Sequelae of infectious encephalitis | ||
| SSADH | ||
| UFM1 | ||
| VPS13D | ||
| Wilson’s disease | ||
| D | Corticospinal tract T2W hyperintensity | 3-HMG-CoA lyase deficiency |
| CP | ||
| Cerebrotendinous xanthomatosis | ||
| Krabbe disease | ||
| SLC19A3 | ||
| VPS13D | ||
| E | Dentate T2W hyperintensities | 3-HMG-COA Lyase deficiency |
| ADEM | ||
| Alexander disease | ||
| Arboviral encephalitis | ||
| Beta ketothiolase deficiency | ||
| Canavan disease | ||
| Cerebrotendinous xanthomatosis | ||
| Giant axonal neuropathy | ||
| Glutaric aciduria type 1 | ||
| Kearns Sayre syndrome | ||
| Kernicterus | ||
| Krabbe disease | ||
| L-2-OH-glutaric aciduria | ||
| Langerhans cell histiocytosis | ||
| Maple syrup urine disease | ||
| MEGDEL | ||
| MMA | ||
| Mitochondrial disorders (various) | ||
| Neuroferritinopathy | ||
| PDHC | ||
| Propionic acidaemia | ||
| SLC19A3 | ||
| SSADH | ||
| Sulfite oxidase and molybdenum cofactor deficiency | ||
| Vigabatrin toxicity | ||
| Wilson's disease | ||
| F | Hypomyelination with increased basal ganglia susceptibility | BPAN |
| ADAR | ||
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| Cockayne syndrome | ||
| Fucosidosis | ||
| GM1 and GM2 Gangliosidoses | ||
| Idiopathic basal ganglia calcification | ||
| Mucolipidosis type IV | ||
| TUBB4A | ||
| G | Hypomyelination with basal ganglia T2W hyperintensity | 3-HMG-COA Lyase deficiency |
| Alexander disease | ||
| Canavan disease | ||
| Cerebral creatine deficiency syndromes | ||
| GM1 and GM2 Gangliosidoses | ||
| Glutaric aciduria type 1 | ||
| Methylmalonic acidaemia | ||
| Mitochondrial disorders (various - particularly Complex 1 deficiency) | ||
| POLR3A | ||
| Propionic acidaemia | ||
| SSADH | ||
| UFM1 | ||
| H | Hypothalamus T2W hyperintensity | ADEM |
| ANE | ||
| Kearns Sayre syndrome | ||
| Langerhans cell histiocytosis | ||
| LHON | ||
| ADEM (NMO spectrum disorder) | ||
| PDHC | ||
| Vigabatrin toxicity | ||
| Fucosidosis | ||
| Hypothalamus T1W hyperintensity | Manganese toxicity | |
| Liver failure (likely due to secondary manganese accumulation) | ||
| I | Mainly pallidal T2W hyperintensity without striatal abnormalities | 3-HMG-COA Lyase deficiency |
| Canavan disease | ||
| Cerebrotendinous xanthomatosis | ||
| Carbon monoxide poisoning | ||
| Creatine deficiency syndromes - monogenic and secondary | ||
| Isovaleric acidaemia | ||
| Kearns Sayre syndrome | ||
| Kernicterus | ||
| Krabbe disease | ||
| MMA | ||
| PDHC | ||
| SSADH | ||
| Vigabatrin toxicity | ||
| J | Optic atrophy with increased basal ganglia susceptibility | AP4 deficiency |
| FAHN | ||
| Kufor Rakeb syndrome | ||
| MPAN | ||
| PLAN | ||
| K | Optic atrophy with basal ganglia T2W hyperintensity | Giant axonal neuropathy |
| Mitochondrial disorders - LHON and others | ||
| MECR | ||
| Methanol toxicity | ||
| NUP62 | ||
| L | Optic tract/chiasm thickening | ADEM (NMO spectrum disorder) |
| Alexander disease | ||
| Krabbe disease | ||
| LHON | ||
| M | Pituitary signal change/atrophy | Langerhans cell histiocytosis |
| SLC30A10 | ||
| SLC39A14 | ||
| Woodhouse Sakati syndrome | ||
| N | Short stature/poor growth | 3-HMG-COA Lyase deficiency |
| AP4 deficiency | ||
| Choline transporter-like 1 deficiency (SLC44A1) | ||
| Cockayne syndrome | ||
| KMT2B | ||
| Mitochondrial disorders | ||
| O | Retinopathy | 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency |
| Aceruloplasminemia | ||
| BPAN | ||
| Kearns Sayre syndrome | ||
| Methanol toxicity | ||
| Mitochondrial disorders (various) | ||
| Mucolipidosis type IV | ||
| PKAN | ||
| VAC14 | ||
| P | Rim of T2W hyperintensity around the putamen | ADEM |
| ANE | ||
| BGE | ||
| Encephalitis – Arboviruses | ||
| Gangliosidoses | ||
| Metabolic acidosis | ||
| Myelinolysis | ||
| Propionic acidaemia | ||
| SLC19A3 | ||
| Uraemia | ||
| Wilson’s disease | ||
| Q | Sensorineural hearing loss | 3-HMG-COA lyase deficiency |
| Alpha mannosidosis | ||
| Cockayne syndrome | ||
| Kernicterus | ||
| MEGDEL | ||
| Metachromatic leukodystrophy | ||
| SCP2 | ||
| Mitochondrial disorders (various) | ||
| Woodhouse Sakati syndrome | ||
| R | Increased striatal susceptibility | Aceruloplasminemia |
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| Basal ganglia calcification | ||
| Kufor Rakeb syndrome | ||
| Multiple system atrophy | ||
| Mucolipidosis type IV | ||
| Neuroferritinopathy | ||
| SLC30A10 | ||
| SQSTM1 | ||
| Wilson’s disease | ||
| S | T1W hyperintensities in the basal ganglia - Diffuse | Ephedrine toxicity |
| Hypermanganesemia – TPN, environmental | ||
| SLC30A10 | ||
| SLC39A14 | ||
| Wilson’s disease (particularly with porto-systemic shunt) | ||
| In association with increased basal ganglia susceptibility (less hyperintense than disorders with manganese accumulation) | ||
| T | T1W hyperintensities in the basal ganglia - Patchy | Basal ganglia calcification |
| Carbon monoxide poisoning | ||
| Cyanide poisoning | ||
| PDE8B | ||
| Sequelae of inflammatory disorders | ||
| U | T2W hypointensities in the thalamus | Alpha mannosidosis |
| Aspartylglucosaminuria | ||
| Fucosidosis | ||
| Gangliosidoses | ||
| Metachromatic leukodystrophy |
Abbreviations: ADEM – acute disseminated encephalomyelitis, ANE – Acute necrotizing encephalopathy, BGE – autoimmune basal ganglia encephalitis, BPAN-Beta propeller protein associated degeneration, CoPAN- COASY protein associated neurodegeneration, CP – Cerebral palsy (due to hypoxic ischaemic encephalopathy in term babies), FAHN – FA2H associated neurodegeneration, LHON – Leber’s hereditary optic neuropathy, MEGDEL – 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome, MMA – methyl malonic acidaemia, MPAN – mitochondrial membrane protein associated neurodegeneration, NMO – neuromyelitis optica spectrum disorder, PDHC – pyruvate dehydrogenase complex deficiency, PKAN – Panthothenate kinase associated degeneration, PLAN – PLA2G6 associated neurodegeneration, SSADH – succinic semialdehyde dehydrogenase deficiency
Corrected version:
Table 2
Selected MRI changes and clinical features that aid narrowing down diagnostic differentials for disorders with MRI basal ganglia changes
| . | MRI/clinical feature . | Diagnostic differential . |
|---|---|---|
| A | Calcification accompanying brain iron deposition | BPAN |
| CoPAN | ||
| PKAN | ||
| SQSTM1 | ||
| B | Cerebellar atrophy witd increased basal ganglia susceptibility | Aceruloplasminemia |
| AFG3L2 | ||
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| BPAN | ||
| Choline transporter-like 1 deficiency (SLC44A1) | ||
| Congenital disorder of glycosylation, type IIn (SLC39A8) | ||
| Cockayne syndrome | ||
| FAHN | ||
| Fucosidosis | ||
| GM1 and GM2 Gangliosidoses | ||
| GTPBP2 | ||
| Kufor Rakeb syndrome | ||
| Langerhans cell histiocytosis | ||
| C | Cerebellar atrophy with basal ganglia T2W hyperintensity | MPAN |
| Mucolipidosis type IV | ||
| Neuroferritinopathy | ||
| PKAN | ||
| PLAN | ||
| REPS1 | ||
| SQSTM1 | ||
| TUBB4A | ||
| AFG3L2 | ||
| Aspartylglucosaminuria | ||
| DNAJC19 | ||
| GM1 and GM2 Gangliosidoses | ||
| L-2-OH-glutaric aciduria | ||
| MEGDEL | ||
| Mitochondrial disorders (various) | ||
| PDHC | ||
| Sequelae of infectious encephalitis | ||
| SSADH | ||
| UFM1 | ||
| VPS13D | ||
| Wilson’s disease | ||
| D | Corticospinal tract T2W hyperintensity | 3-HMG-CoA lyase deficiency |
| CP | ||
| Cerebrotendinous xanthomatosis | ||
| Krabbe disease | ||
| SLC19A3 | ||
| VPS13D | ||
| E | Dentate T2W hyperintensities | 3-HMG-COA Lyase deficiency |
| ADEM | ||
| Alexander disease | ||
| Arboviral encephalitis | ||
| Beta ketothiolase deficiency | ||
| Canavan disease | ||
| Cerebrotendinous xanthomatosis | ||
| Giant axonal neuropathy | ||
| Glutaric aciduria type 1 | ||
| Kearns Sayre syndrome | ||
| Kernicterus | ||
| Krabbe disease | ||
| L-2-OH-glutaric aciduria | ||
| Langerhans cell histiocytosis | ||
| Maple syrup urine disease | ||
| MEGDEL | ||
| MMA | ||
| Mitochondrial disorders (various) | ||
| Neuroferritinopathy | ||
| PDHC | ||
| Propionic acidaemia | ||
| SLC19A3 | ||
| SSADH | ||
| Sulphite oxidase and molybdenum cofactor deficiency | ||
| Vigabatrin toxicity | ||
| Wilson's disease | ||
| F | Hypomyelination with increased basal ganglia susceptibility | BPAN |
| ADAR | ||
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| Cockayne syndrome | ||
| Fucosidosis | ||
| GM1 and GM2 Gangliosidoses | ||
| Idiopathic basal ganglia calcification | ||
| Mucolipidosis type IV | ||
| TUBB4A | ||
| G | Hypomyelination with basal ganglia T2W hyperintensity | 3-HMG-COA Lyase deficiency |
| Alexander disease | ||
| Canavan disease | ||
| Cerebral creatine deficiency syndromes | ||
| GM1 and GM2 Gangliosidoses | ||
| Glutaric aciduria type 1 | ||
| Methylmalonic acidaemia | ||
| Mitochondrial disorders (various—particularly Complex 1 deficiency) | ||
| POLR3A | ||
| Propionic acidaemia | ||
| SSADH | ||
| UFM1 | ||
| H | Hypothalamus T2W hyperintensity | ADEM |
| ANE | ||
| Kearns Sayre syndrome | ||
| Langerhans cell histiocytosis | ||
| LHON | ||
| ADEM (NMO spectrum disorder) | ||
| PDHC | ||
| Vigabatrin toxicity | ||
| Fucosidosis | ||
| Hypothalamus T1W hyperintensity | Manganese toxicity | |
| Liver failure (likely due to secondary manganese accumulation) | ||
| I | Mainly pallidal T2W hyperintensity without striatal abnormalities | 3-HMG-COA Lyase deficiency |
| Canavan disease | ||
| Cerebrotendinous xanthomatosis | ||
| Carbon monoxide poisoning | ||
| Creatine deficiency syndromes—monogenic and secondary | ||
| Isovaleric acidaemia | ||
| Kearns Sayre syndrome | ||
| Kernicterus | ||
| Krabbe disease | ||
| MMA | ||
| PDHC | ||
| SSADH | ||
| Vigabatrin toxicity | ||
| J | Optic atrophy with increased basal ganglia susceptibility | AP4 deficiency |
| FAHN | ||
| Kufor Rakeb syndrome | ||
| MPAN | ||
| PLAN | ||
| K | Optic atrophy with basal ganglia T2W hyperintensity | Giant axonal neuropathy |
| Mitochondrial disorders—LHON and others | ||
| MECR | ||
| Methanol toxicity | ||
| NUP62 | ||
| L | Optic tract/chiasm thickening | ADEM (NMO spectrum disorder) |
| Alexander disease | ||
| Krabbe disease | ||
| LHON | ||
| M | Pituitary signal change/atrophy | Langerhans cell histiocytosis |
| SLC30A10 | ||
| SLC39A14 | ||
| Woodhouse Sakati syndrome | ||
| N | Short stature/poor growth | 3-HMG-COA Lyase deficiency |
| AP4 deficiency | ||
| Choline transporter-like 1 deficiency (SLC44A1) | ||
| Cockayne syndrome | ||
| KMT2B | ||
| Mitochondrial disorders | ||
| O | Retinopathy | 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency |
| Aceruloplasminemia | ||
| BPAN | ||
| Kearns Sayre syndrome | ||
| Methanol toxicity | ||
| Mitochondrial disorders (various) | ||
| Mucolipidosis type IV | ||
| PKAN | ||
| VAC14 | ||
| P | Rim of T2W hyperintensity around the putamen | ADEM |
| ANE | ||
| BGE | ||
| Encephalitis—Arboviruses | ||
| Gangliosidoses | ||
| Metabolic acidosis | ||
| Myelinolysis | ||
| Propionic acidaemia | ||
| SLC19A3 | ||
| Uraemia | ||
| Wilson’s disease | ||
| Q | Sensorineural hearing loss | 3-HMG-COA lyase deficiency |
| Alpha mannosidosis | ||
| Cockayne syndrome | ||
| Kernicterus | ||
| MEGDEL | ||
| Metachromatic leukodystrophy | ||
| SCP2 | ||
| Mitochondrial disorders (various) | ||
| Woodhouse Sakati syndrome | ||
| R | Increased striatal susceptibility | Aceruloplasminemia |
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| Basal ganglia calcification | ||
| Kufor Rakeb syndrome | ||
| Multiple system atrophy | ||
| Mucolipidosis type IV | ||
| Neuroferritinopathy | ||
| SLC30A10 | ||
| SQSTM1 | ||
| Wilson’s disease | ||
| S | T1W hyperintensities in the basal ganglia—Diffuse | Ephedrine toxicity |
| Hypermanganesemia—TPN, environmental | ||
| SLC30A10 | ||
| SLC39A14 | ||
| Wilson’s disease (particularly with porto-systemic shunt) | ||
| In association with increased basal ganglia susceptibility (less hyperintense than disorders with manganese accumulation) | ||
| T | T1W hyperintensities in the basal ganglia—Patchy | Basal ganglia calcification |
| Carbon monoxide poisoning | ||
| Cyanide poisoning | ||
| PDE8B | ||
| Sequelae of inflammatory disorders | ||
| U | T2W hypointensities in the thalamus | Alpha mannosidosis |
| Aspartylglucosaminuria | ||
| Fucosidosis | ||
| Gangliosidoses | ||
| Metachromatic leukodystrophy |
| . | MRI/clinical feature . | Diagnostic differential . |
|---|---|---|
| A | Calcification accompanying brain iron deposition | BPAN |
| CoPAN | ||
| PKAN | ||
| SQSTM1 | ||
| B | Cerebellar atrophy witd increased basal ganglia susceptibility | Aceruloplasminemia |
| AFG3L2 | ||
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| BPAN | ||
| Choline transporter-like 1 deficiency (SLC44A1) | ||
| Congenital disorder of glycosylation, type IIn (SLC39A8) | ||
| Cockayne syndrome | ||
| FAHN | ||
| Fucosidosis | ||
| GM1 and GM2 Gangliosidoses | ||
| GTPBP2 | ||
| Kufor Rakeb syndrome | ||
| Langerhans cell histiocytosis | ||
| C | Cerebellar atrophy with basal ganglia T2W hyperintensity | MPAN |
| Mucolipidosis type IV | ||
| Neuroferritinopathy | ||
| PKAN | ||
| PLAN | ||
| REPS1 | ||
| SQSTM1 | ||
| TUBB4A | ||
| AFG3L2 | ||
| Aspartylglucosaminuria | ||
| DNAJC19 | ||
| GM1 and GM2 Gangliosidoses | ||
| L-2-OH-glutaric aciduria | ||
| MEGDEL | ||
| Mitochondrial disorders (various) | ||
| PDHC | ||
| Sequelae of infectious encephalitis | ||
| SSADH | ||
| UFM1 | ||
| VPS13D | ||
| Wilson’s disease | ||
| D | Corticospinal tract T2W hyperintensity | 3-HMG-CoA lyase deficiency |
| CP | ||
| Cerebrotendinous xanthomatosis | ||
| Krabbe disease | ||
| SLC19A3 | ||
| VPS13D | ||
| E | Dentate T2W hyperintensities | 3-HMG-COA Lyase deficiency |
| ADEM | ||
| Alexander disease | ||
| Arboviral encephalitis | ||
| Beta ketothiolase deficiency | ||
| Canavan disease | ||
| Cerebrotendinous xanthomatosis | ||
| Giant axonal neuropathy | ||
| Glutaric aciduria type 1 | ||
| Kearns Sayre syndrome | ||
| Kernicterus | ||
| Krabbe disease | ||
| L-2-OH-glutaric aciduria | ||
| Langerhans cell histiocytosis | ||
| Maple syrup urine disease | ||
| MEGDEL | ||
| MMA | ||
| Mitochondrial disorders (various) | ||
| Neuroferritinopathy | ||
| PDHC | ||
| Propionic acidaemia | ||
| SLC19A3 | ||
| SSADH | ||
| Sulphite oxidase and molybdenum cofactor deficiency | ||
| Vigabatrin toxicity | ||
| Wilson's disease | ||
| F | Hypomyelination with increased basal ganglia susceptibility | BPAN |
| ADAR | ||
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| Cockayne syndrome | ||
| Fucosidosis | ||
| GM1 and GM2 Gangliosidoses | ||
| Idiopathic basal ganglia calcification | ||
| Mucolipidosis type IV | ||
| TUBB4A | ||
| G | Hypomyelination with basal ganglia T2W hyperintensity | 3-HMG-COA Lyase deficiency |
| Alexander disease | ||
| Canavan disease | ||
| Cerebral creatine deficiency syndromes | ||
| GM1 and GM2 Gangliosidoses | ||
| Glutaric aciduria type 1 | ||
| Methylmalonic acidaemia | ||
| Mitochondrial disorders (various—particularly Complex 1 deficiency) | ||
| POLR3A | ||
| Propionic acidaemia | ||
| SSADH | ||
| UFM1 | ||
| H | Hypothalamus T2W hyperintensity | ADEM |
| ANE | ||
| Kearns Sayre syndrome | ||
| Langerhans cell histiocytosis | ||
| LHON | ||
| ADEM (NMO spectrum disorder) | ||
| PDHC | ||
| Vigabatrin toxicity | ||
| Fucosidosis | ||
| Hypothalamus T1W hyperintensity | Manganese toxicity | |
| Liver failure (likely due to secondary manganese accumulation) | ||
| I | Mainly pallidal T2W hyperintensity without striatal abnormalities | 3-HMG-COA Lyase deficiency |
| Canavan disease | ||
| Cerebrotendinous xanthomatosis | ||
| Carbon monoxide poisoning | ||
| Creatine deficiency syndromes—monogenic and secondary | ||
| Isovaleric acidaemia | ||
| Kearns Sayre syndrome | ||
| Kernicterus | ||
| Krabbe disease | ||
| MMA | ||
| PDHC | ||
| SSADH | ||
| Vigabatrin toxicity | ||
| J | Optic atrophy with increased basal ganglia susceptibility | AP4 deficiency |
| FAHN | ||
| Kufor Rakeb syndrome | ||
| MPAN | ||
| PLAN | ||
| K | Optic atrophy with basal ganglia T2W hyperintensity | Giant axonal neuropathy |
| Mitochondrial disorders—LHON and others | ||
| MECR | ||
| Methanol toxicity | ||
| NUP62 | ||
| L | Optic tract/chiasm thickening | ADEM (NMO spectrum disorder) |
| Alexander disease | ||
| Krabbe disease | ||
| LHON | ||
| M | Pituitary signal change/atrophy | Langerhans cell histiocytosis |
| SLC30A10 | ||
| SLC39A14 | ||
| Woodhouse Sakati syndrome | ||
| N | Short stature/poor growth | 3-HMG-COA Lyase deficiency |
| AP4 deficiency | ||
| Choline transporter-like 1 deficiency (SLC44A1) | ||
| Cockayne syndrome | ||
| KMT2B | ||
| Mitochondrial disorders | ||
| O | Retinopathy | 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency |
| Aceruloplasminemia | ||
| BPAN | ||
| Kearns Sayre syndrome | ||
| Methanol toxicity | ||
| Mitochondrial disorders (various) | ||
| Mucolipidosis type IV | ||
| PKAN | ||
| VAC14 | ||
| P | Rim of T2W hyperintensity around the putamen | ADEM |
| ANE | ||
| BGE | ||
| Encephalitis—Arboviruses | ||
| Gangliosidoses | ||
| Metabolic acidosis | ||
| Myelinolysis | ||
| Propionic acidaemia | ||
| SLC19A3 | ||
| Uraemia | ||
| Wilson’s disease | ||
| Q | Sensorineural hearing loss | 3-HMG-COA lyase deficiency |
| Alpha mannosidosis | ||
| Cockayne syndrome | ||
| Kernicterus | ||
| MEGDEL | ||
| Metachromatic leukodystrophy | ||
| SCP2 | ||
| Mitochondrial disorders (various) | ||
| Woodhouse Sakati syndrome | ||
| R | Increased striatal susceptibility | Aceruloplasminemia |
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| Basal ganglia calcification | ||
| Kufor Rakeb syndrome | ||
| Multiple system atrophy | ||
| Mucolipidosis type IV | ||
| Neuroferritinopathy | ||
| SLC30A10 | ||
| SQSTM1 | ||
| Wilson’s disease | ||
| S | T1W hyperintensities in the basal ganglia—Diffuse | Ephedrine toxicity |
| Hypermanganesemia—TPN, environmental | ||
| SLC30A10 | ||
| SLC39A14 | ||
| Wilson’s disease (particularly with porto-systemic shunt) | ||
| In association with increased basal ganglia susceptibility (less hyperintense than disorders with manganese accumulation) | ||
| T | T1W hyperintensities in the basal ganglia—Patchy | Basal ganglia calcification |
| Carbon monoxide poisoning | ||
| Cyanide poisoning | ||
| PDE8B | ||
| Sequelae of inflammatory disorders | ||
| U | T2W hypointensities in the thalamus | Alpha mannosidosis |
| Aspartylglucosaminuria | ||
| Fucosidosis | ||
| Gangliosidoses | ||
| Metachromatic leukodystrophy |
ADEM, acute-disseminated encephalomyelitis; ANE, acute necrotizing encephalopathy; BGE, autoimmune basal ganglia encephalitis; BPAN, beta-propeller protein-associated degeneration; CoPAN, COASY protein-associated neurodegeneration; CP, cerebral palsy (due to HIE in term babies); FAHN, FA2H-associated neurodegeneration; LHON, Leber’s hereditary optic neuropathy; MEGDEL, 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome; MMA, methyl malonic acidaemia; MPAN, mitochondrial membrane protein-associated neurodegeneration; NMO, neuromyelitis optica spectrum disorder; PDHC, pyruvate dehydrogenase complex deficiency; PKAN, Panthothenate kinase-associated degeneration; PLAN, PLA2G6-associated neurodegeneration; SSADH, succinic semialdehyde dehydrogenase deficiency.
Table 2
Selected MRI changes and clinical features that aid narrowing down diagnostic differentials for disorders with MRI basal ganglia changes
| . | MRI/clinical feature . | Diagnostic differential . |
|---|---|---|
| A | Calcification accompanying brain iron deposition | BPAN |
| CoPAN | ||
| PKAN | ||
| SQSTM1 | ||
| B | Cerebellar atrophy witd increased basal ganglia susceptibility | Aceruloplasminemia |
| AFG3L2 | ||
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| BPAN | ||
| Choline transporter-like 1 deficiency (SLC44A1) | ||
| Congenital disorder of glycosylation, type IIn (SLC39A8) | ||
| Cockayne syndrome | ||
| FAHN | ||
| Fucosidosis | ||
| GM1 and GM2 Gangliosidoses | ||
| GTPBP2 | ||
| Kufor Rakeb syndrome | ||
| Langerhans cell histiocytosis | ||
| C | Cerebellar atrophy with basal ganglia T2W hyperintensity | MPAN |
| Mucolipidosis type IV | ||
| Neuroferritinopathy | ||
| PKAN | ||
| PLAN | ||
| REPS1 | ||
| SQSTM1 | ||
| TUBB4A | ||
| AFG3L2 | ||
| Aspartylglucosaminuria | ||
| DNAJC19 | ||
| GM1 and GM2 Gangliosidoses | ||
| L-2-OH-glutaric aciduria | ||
| MEGDEL | ||
| Mitochondrial disorders (various) | ||
| PDHC | ||
| Sequelae of infectious encephalitis | ||
| SSADH | ||
| UFM1 | ||
| VPS13D | ||
| Wilson’s disease | ||
| D | Corticospinal tract T2W hyperintensity | 3-HMG-CoA lyase deficiency |
| CP | ||
| Cerebrotendinous xanthomatosis | ||
| Krabbe disease | ||
| SLC19A3 | ||
| VPS13D | ||
| E | Dentate T2W hyperintensities | 3-HMG-COA Lyase deficiency |
| ADEM | ||
| Alexander disease | ||
| Arboviral encephalitis | ||
| Beta ketothiolase deficiency | ||
| Canavan disease | ||
| Cerebrotendinous xanthomatosis | ||
| Giant axonal neuropathy | ||
| Glutaric aciduria type 1 | ||
| Kearns Sayre syndrome | ||
| Kernicterus | ||
| Krabbe disease | ||
| L-2-OH-glutaric aciduria | ||
| Langerhans cell histiocytosis | ||
| Maple syrup urine disease | ||
| MEGDEL | ||
| MMA | ||
| Mitochondrial disorders (various) | ||
| Neuroferritinopathy | ||
| PDHC | ||
| Propionic acidaemia | ||
| SLC19A3 | ||
| SSADH | ||
| Sulphite oxidase and molybdenum cofactor deficiency | ||
| Vigabatrin toxicity | ||
| Wilson's disease | ||
| F | Hypomyelination with increased basal ganglia susceptibility | BPAN |
| ADAR | ||
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| Cockayne syndrome | ||
| Fucosidosis | ||
| GM1 and GM2 Gangliosidoses | ||
| Idiopathic basal ganglia calcification | ||
| Mucolipidosis type IV | ||
| TUBB4A | ||
| G | Hypomyelination with basal ganglia T2W hyperintensity | 3-HMG-COA Lyase deficiency |
| Alexander disease | ||
| Canavan disease | ||
| Cerebral creatine deficiency syndromes | ||
| GM1 and GM2 Gangliosidoses | ||
| Glutaric aciduria type 1 | ||
| Methylmalonic acidaemia | ||
| Mitochondrial disorders (various—particularly Complex 1 deficiency) | ||
| POLR3A | ||
| Propionic acidaemia | ||
| SSADH | ||
| UFM1 | ||
| H | Hypothalamus T2W hyperintensity | ADEM |
| ANE | ||
| Kearns Sayre syndrome | ||
| Langerhans cell histiocytosis | ||
| LHON | ||
| ADEM (NMO spectrum disorder) | ||
| PDHC | ||
| Vigabatrin toxicity | ||
| Fucosidosis | ||
| Hypothalamus T1W hyperintensity | Manganese toxicity | |
| Liver failure (likely due to secondary manganese accumulation) | ||
| I | Mainly pallidal T2W hyperintensity without striatal abnormalities | 3-HMG-COA Lyase deficiency |
| Canavan disease | ||
| Cerebrotendinous xanthomatosis | ||
| Carbon monoxide poisoning | ||
| Creatine deficiency syndromes—monogenic and secondary | ||
| Isovaleric acidaemia | ||
| Kearns Sayre syndrome | ||
| Kernicterus | ||
| Krabbe disease | ||
| MMA | ||
| PDHC | ||
| SSADH | ||
| Vigabatrin toxicity | ||
| J | Optic atrophy with increased basal ganglia susceptibility | AP4 deficiency |
| FAHN | ||
| Kufor Rakeb syndrome | ||
| MPAN | ||
| PLAN | ||
| K | Optic atrophy with basal ganglia T2W hyperintensity | Giant axonal neuropathy |
| Mitochondrial disorders—LHON and others | ||
| MECR | ||
| Methanol toxicity | ||
| NUP62 | ||
| L | Optic tract/chiasm thickening | ADEM (NMO spectrum disorder) |
| Alexander disease | ||
| Krabbe disease | ||
| LHON | ||
| M | Pituitary signal change/atrophy | Langerhans cell histiocytosis |
| SLC30A10 | ||
| SLC39A14 | ||
| Woodhouse Sakati syndrome | ||
| N | Short stature/poor growth | 3-HMG-COA Lyase deficiency |
| AP4 deficiency | ||
| Choline transporter-like 1 deficiency (SLC44A1) | ||
| Cockayne syndrome | ||
| KMT2B | ||
| Mitochondrial disorders | ||
| O | Retinopathy | 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency |
| Aceruloplasminemia | ||
| BPAN | ||
| Kearns Sayre syndrome | ||
| Methanol toxicity | ||
| Mitochondrial disorders (various) | ||
| Mucolipidosis type IV | ||
| PKAN | ||
| VAC14 | ||
| P | Rim of T2W hyperintensity around the putamen | ADEM |
| ANE | ||
| BGE | ||
| Encephalitis—Arboviruses | ||
| Gangliosidoses | ||
| Metabolic acidosis | ||
| Myelinolysis | ||
| Propionic acidaemia | ||
| SLC19A3 | ||
| Uraemia | ||
| Wilson’s disease | ||
| Q | Sensorineural hearing loss | 3-HMG-COA lyase deficiency |
| Alpha mannosidosis | ||
| Cockayne syndrome | ||
| Kernicterus | ||
| MEGDEL | ||
| Metachromatic leukodystrophy | ||
| SCP2 | ||
| Mitochondrial disorders (various) | ||
| Woodhouse Sakati syndrome | ||
| R | Increased striatal susceptibility | Aceruloplasminemia |
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| Basal ganglia calcification | ||
| Kufor Rakeb syndrome | ||
| Multiple system atrophy | ||
| Mucolipidosis type IV | ||
| Neuroferritinopathy | ||
| SLC30A10 | ||
| SQSTM1 | ||
| Wilson’s disease | ||
| S | T1W hyperintensities in the basal ganglia—Diffuse | Ephedrine toxicity |
| Hypermanganesemia—TPN, environmental | ||
| SLC30A10 | ||
| SLC39A14 | ||
| Wilson’s disease (particularly with porto-systemic shunt) | ||
| In association with increased basal ganglia susceptibility (less hyperintense than disorders with manganese accumulation) | ||
| T | T1W hyperintensities in the basal ganglia—Patchy | Basal ganglia calcification |
| Carbon monoxide poisoning | ||
| Cyanide poisoning | ||
| PDE8B | ||
| Sequelae of inflammatory disorders | ||
| U | T2W hypointensities in the thalamus | Alpha mannosidosis |
| Aspartylglucosaminuria | ||
| Fucosidosis | ||
| Gangliosidoses | ||
| Metachromatic leukodystrophy |
| . | MRI/clinical feature . | Diagnostic differential . |
|---|---|---|
| A | Calcification accompanying brain iron deposition | BPAN |
| CoPAN | ||
| PKAN | ||
| SQSTM1 | ||
| B | Cerebellar atrophy witd increased basal ganglia susceptibility | Aceruloplasminemia |
| AFG3L2 | ||
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| BPAN | ||
| Choline transporter-like 1 deficiency (SLC44A1) | ||
| Congenital disorder of glycosylation, type IIn (SLC39A8) | ||
| Cockayne syndrome | ||
| FAHN | ||
| Fucosidosis | ||
| GM1 and GM2 Gangliosidoses | ||
| GTPBP2 | ||
| Kufor Rakeb syndrome | ||
| Langerhans cell histiocytosis | ||
| C | Cerebellar atrophy with basal ganglia T2W hyperintensity | MPAN |
| Mucolipidosis type IV | ||
| Neuroferritinopathy | ||
| PKAN | ||
| PLAN | ||
| REPS1 | ||
| SQSTM1 | ||
| TUBB4A | ||
| AFG3L2 | ||
| Aspartylglucosaminuria | ||
| DNAJC19 | ||
| GM1 and GM2 Gangliosidoses | ||
| L-2-OH-glutaric aciduria | ||
| MEGDEL | ||
| Mitochondrial disorders (various) | ||
| PDHC | ||
| Sequelae of infectious encephalitis | ||
| SSADH | ||
| UFM1 | ||
| VPS13D | ||
| Wilson’s disease | ||
| D | Corticospinal tract T2W hyperintensity | 3-HMG-CoA lyase deficiency |
| CP | ||
| Cerebrotendinous xanthomatosis | ||
| Krabbe disease | ||
| SLC19A3 | ||
| VPS13D | ||
| E | Dentate T2W hyperintensities | 3-HMG-COA Lyase deficiency |
| ADEM | ||
| Alexander disease | ||
| Arboviral encephalitis | ||
| Beta ketothiolase deficiency | ||
| Canavan disease | ||
| Cerebrotendinous xanthomatosis | ||
| Giant axonal neuropathy | ||
| Glutaric aciduria type 1 | ||
| Kearns Sayre syndrome | ||
| Kernicterus | ||
| Krabbe disease | ||
| L-2-OH-glutaric aciduria | ||
| Langerhans cell histiocytosis | ||
| Maple syrup urine disease | ||
| MEGDEL | ||
| MMA | ||
| Mitochondrial disorders (various) | ||
| Neuroferritinopathy | ||
| PDHC | ||
| Propionic acidaemia | ||
| SLC19A3 | ||
| SSADH | ||
| Sulphite oxidase and molybdenum cofactor deficiency | ||
| Vigabatrin toxicity | ||
| Wilson's disease | ||
| F | Hypomyelination with increased basal ganglia susceptibility | BPAN |
| ADAR | ||
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| Cockayne syndrome | ||
| Fucosidosis | ||
| GM1 and GM2 Gangliosidoses | ||
| Idiopathic basal ganglia calcification | ||
| Mucolipidosis type IV | ||
| TUBB4A | ||
| G | Hypomyelination with basal ganglia T2W hyperintensity | 3-HMG-COA Lyase deficiency |
| Alexander disease | ||
| Canavan disease | ||
| Cerebral creatine deficiency syndromes | ||
| GM1 and GM2 Gangliosidoses | ||
| Glutaric aciduria type 1 | ||
| Methylmalonic acidaemia | ||
| Mitochondrial disorders (various—particularly Complex 1 deficiency) | ||
| POLR3A | ||
| Propionic acidaemia | ||
| SSADH | ||
| UFM1 | ||
| H | Hypothalamus T2W hyperintensity | ADEM |
| ANE | ||
| Kearns Sayre syndrome | ||
| Langerhans cell histiocytosis | ||
| LHON | ||
| ADEM (NMO spectrum disorder) | ||
| PDHC | ||
| Vigabatrin toxicity | ||
| Fucosidosis | ||
| Hypothalamus T1W hyperintensity | Manganese toxicity | |
| Liver failure (likely due to secondary manganese accumulation) | ||
| I | Mainly pallidal T2W hyperintensity without striatal abnormalities | 3-HMG-COA Lyase deficiency |
| Canavan disease | ||
| Cerebrotendinous xanthomatosis | ||
| Carbon monoxide poisoning | ||
| Creatine deficiency syndromes—monogenic and secondary | ||
| Isovaleric acidaemia | ||
| Kearns Sayre syndrome | ||
| Kernicterus | ||
| Krabbe disease | ||
| MMA | ||
| PDHC | ||
| SSADH | ||
| Vigabatrin toxicity | ||
| J | Optic atrophy with increased basal ganglia susceptibility | AP4 deficiency |
| FAHN | ||
| Kufor Rakeb syndrome | ||
| MPAN | ||
| PLAN | ||
| K | Optic atrophy with basal ganglia T2W hyperintensity | Giant axonal neuropathy |
| Mitochondrial disorders—LHON and others | ||
| MECR | ||
| Methanol toxicity | ||
| NUP62 | ||
| L | Optic tract/chiasm thickening | ADEM (NMO spectrum disorder) |
| Alexander disease | ||
| Krabbe disease | ||
| LHON | ||
| M | Pituitary signal change/atrophy | Langerhans cell histiocytosis |
| SLC30A10 | ||
| SLC39A14 | ||
| Woodhouse Sakati syndrome | ||
| N | Short stature/poor growth | 3-HMG-COA Lyase deficiency |
| AP4 deficiency | ||
| Choline transporter-like 1 deficiency (SLC44A1) | ||
| Cockayne syndrome | ||
| KMT2B | ||
| Mitochondrial disorders | ||
| O | Retinopathy | 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency |
| Aceruloplasminemia | ||
| BPAN | ||
| Kearns Sayre syndrome | ||
| Methanol toxicity | ||
| Mitochondrial disorders (various) | ||
| Mucolipidosis type IV | ||
| PKAN | ||
| VAC14 | ||
| P | Rim of T2W hyperintensity around the putamen | ADEM |
| ANE | ||
| BGE | ||
| Encephalitis—Arboviruses | ||
| Gangliosidoses | ||
| Metabolic acidosis | ||
| Myelinolysis | ||
| Propionic acidaemia | ||
| SLC19A3 | ||
| Uraemia | ||
| Wilson’s disease | ||
| Q | Sensorineural hearing loss | 3-HMG-COA lyase deficiency |
| Alpha mannosidosis | ||
| Cockayne syndrome | ||
| Kernicterus | ||
| MEGDEL | ||
| Metachromatic leukodystrophy | ||
| SCP2 | ||
| Mitochondrial disorders (various) | ||
| Woodhouse Sakati syndrome | ||
| R | Increased striatal susceptibility | Aceruloplasminemia |
| Alpha mannosidosis | ||
| Aspartylglucosaminuria | ||
| Basal ganglia calcification | ||
| Kufor Rakeb syndrome | ||
| Multiple system atrophy | ||
| Mucolipidosis type IV | ||
| Neuroferritinopathy | ||
| SLC30A10 | ||
| SQSTM1 | ||
| Wilson’s disease | ||
| S | T1W hyperintensities in the basal ganglia—Diffuse | Ephedrine toxicity |
| Hypermanganesemia—TPN, environmental | ||
| SLC30A10 | ||
| SLC39A14 | ||
| Wilson’s disease (particularly with porto-systemic shunt) | ||
| In association with increased basal ganglia susceptibility (less hyperintense than disorders with manganese accumulation) | ||
| T | T1W hyperintensities in the basal ganglia—Patchy | Basal ganglia calcification |
| Carbon monoxide poisoning | ||
| Cyanide poisoning | ||
| PDE8B | ||
| Sequelae of inflammatory disorders | ||
| U | T2W hypointensities in the thalamus | Alpha mannosidosis |
| Aspartylglucosaminuria | ||
| Fucosidosis | ||
| Gangliosidoses | ||
| Metachromatic leukodystrophy |
ADEM, acute-disseminated encephalomyelitis; ANE, acute necrotizing encephalopathy; BGE, autoimmune basal ganglia encephalitis; BPAN, beta-propeller protein-associated degeneration; CoPAN, COASY protein-associated neurodegeneration; CP, cerebral palsy (due to HIE in term babies); FAHN, FA2H-associated neurodegeneration; LHON, Leber’s hereditary optic neuropathy; MEGDEL, 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome; MMA, methyl malonic acidaemia; MPAN, mitochondrial membrane protein-associated neurodegeneration; NMO, neuromyelitis optica spectrum disorder; PDHC, pyruvate dehydrogenase complex deficiency; PKAN, Panthothenate kinase-associated degeneration; PLAN, PLA2G6-associated neurodegeneration; SSADH, succinic semialdehyde dehydrogenase deficiency.
The publisher would like to apologizes for this error.
© The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain.
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