Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

PubMedID: 22749724

Traverso M, Yuregir OO, Mimouni-Bloch A, Rossi A, Aslan H, Gazzerro E, Baldassari S, Fruscione F, Minetti C, Zara F, Biancheri R. Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families. Eur J Paediatr Neurol. 2013;17(1):108-11.
BACKGROUND
Hypomyelination and congenital cataract (HCC) is a rare autosomal recessive white matter disorder characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in the central and peripheral nervous system, caused by mutations in the FAM126A gene.

AIMS
To report three patients of two unrelated families segregating novel mutations.

METHODS
clinical, neurophysiological, neuroradiologic and molecular investigations were carried out.

RESULTS
All patients show bilateral congenital cataract and progressive neurological impairment with peripheral neuropathy. The clinical phenotype is consistent with the severe form of HCC. Brain magnetic resonance imaging show the combination of a diffuse hypomyelination with superimposed periventricular white matter signal abnormalities.

CONCLUSIONS
this study describes three additional HCC patients indicating that this recently defined leukoencephalopathy should be included in the differential diagnosis of hypomyelination in childhood. The peculiar clinical and neuroradiologic findings are useful to properly address molecular investigations and allow the differential diagnosis between HCC and other hypomyelinating forms.