Objective: To present an unusual case report.

Background: Pelizaeus Merzbacher like disease (PMLD) is a hypomyelination disorder, usually manifesting in neonatal or an early infantile period with progressive dynamics. The usually encountered clinical presentation comprises of nystagmus, hypotonia, delayed milestones, and dysarthria. Spasticity and cerebellar science manifest later during the disease course. Albeit, not very common, movement disorders may develop in few of the cases.

Method: Here we present a case of a 10 year old child, born of a consanguinous marriage presenting with dysmorphic features, developmental delay and abnormal choreiform movements. He had a spastic gait. Finger nose ataxia was present along with nystagmus. Birth history was non-yielding. Cognition appeared intact.

Results: A higher resolution MRI brain was performed, which raised a proposition of a hypomyelinating disorder without sparing of the corticospinal tracts, involvement of pons and cerebellum, along with an optimally myelinated anterolateral thalami. The distribution was in accordance with PMLD, other imaging differential being fucosidosis in view of pronounced T2 hypointensity of the paleostriatum.

To corroborate the clinical and radiological findings, a targeted sequencing analysis was done which demonstrated a homozygous variation in Exon 2 of gap junction protein gamma 2 gene (GJC2) and hence, collectively, a diagnosis of PMLD was inferred.

Conclusion: Our patient had predominantly chorea, ataxia and spasticity. PMLD should be suspected in any child, presenting with a developmental delay, in a compliment of dysmorphic features, nystagmus and movement disorders.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/pelizaeus-merzbacher-like-disease-pmld-neuroradiological-phenotyping/