Common brain malformation associated with neurometabolic disorders.
| Brain malformation | Corpus Callosum | Cerebrum | Cerebellum | Brainstem | Germinolytic cysts | Vessels |
|---|---|---|---|---|---|---|
| Nonketotic hyperglycinemia25 | CC dysgenesis | Ventriculomegaly | Vermis hypoplasia, mainly the inferior part | |||
| Pyruvate dehydrogenase deficiency26 | CC dysgenesis | -Subcortical heterotopias -Pachygyria -Polymicrogyria | -Cerebellar hypoplasia -Hypoplastic dentate nuclei -Mega cisterna magna | Brainstem hypoplasia | ++ | |
| Mitochondriopathies21,27 | CC dysgenesis | Ventriculomegaly Cortical dysplasia | ++ | |||
| Congenital disorder of glycosylation (PMM2-CDG)28 | Cerebellar hypoplasia | Pontine hypoplasia | ||||
| ALG8-CDG29 | CC hypoplasia | Ventriculomegaly | ||||
| ALG3-CDG30 | Pons hypoplasia | |||||
| Zellweger syndrome31 | CC dysgenesis | -Polymicrogyria -Pachygyria -Periventricular heterotopias | Cerebellar hypoplasia | +++ | ||
| Smith-Lemli-Opitz syndrome18 | Absent or hypoplastic CC | Ventriculomegaly Holoprosencephaly Hippocampal hypoplasia Frontal lobes hypoplasia | Cerebellar hypoplasia | |||
| Mucolipidosis32 | CC dysgenesis | Cerebellar hypoplasia | Pontine hypoplasia | |||
| Fumaric aciduria33 | Polymicrogyria Ventriculomegaly Open opercula | |||||
| Bifunctional enzyme deficiency34 | ||||||
| Adenylosuccinate lyase deficiency35 | Thin corpus callosum | -wide sylvian fissures with operculum hypoplasia -Lissencephaly | ++ | |||
| Neu-laxova syndrome (inborn error of serine metabolism)24 | Absence of CC | Ventriculomegaly Simplified gyri | Cerebellar hypoplasia | Hypoplastic brain stem | ||
| Carnitine palmitoyltransferase II deficiency36 | Abnormal migration disorders | Dandy-Walker malformation | ||||
| Menkes disease37 | tortuous and elongated intracranial vessels | |||||
| Sulfite oxidase deficiency38 | Cerebellar hypoplasia | |||||
| Glutaric aciduria type I39 | -Widened operculum -Dilatation of the subarachnoid spaces -Underdeveloped frontotemporal lobes -Incomplete hippocampal inversion -Large cavum septum pellucidi | |||||
| Glutaric aciduria type II40 | CC dysgenesis | -Pachygyria -Subcortical heterotopias | Cerebellar hypoplasia | |||
| Pyridoxine dependent epilepsy41,42 | -Thinning of the isthmus of the CC-mega cisterna magna -Ventriculomegaly -Heterotopias | -Cerebellar hypoplasia -mega cisterna magna | ||||
| Krabbe disease43 | Thick optic nerve and chiasma | |||||
| Maternal phenylketonuria44 | CC dysgenesis | |||||
| Asparagine synthetase deficiency45 | Simplified gyri | Pontine hypoplasia | ||||
| Pyruvate carboxylase deficiency46 | Subcortical heterotopias | ++ | ||||
| Mucopolysaccharidoses type I and II47 | -Enlarged perivascular spaces -Ventriculomegaly | -Enlarged perivascular spaces -Mega cisterna magna -Macrocerebellum |
CC - corpus callosum