258 A case of two brothers: should we look beyond a diagnosis of cerebral palsy?

Abstract

BackgroundPelizaeus-Merzbacher Disease (PMD) is an X-linked leukodystrophy with variable phenotypes often overlapping with cerebral palsy (CP).Case DescriptionsWe describe 2 brothers, presenting at the same time.Case1: 34 years old with a 2-year history of hand tremor, cognitive decline and deteriorating mobility. He required neonatal ICU following a prolonged delivery, was slow to walk and subsequently misdiagnosed at age 4. Examination revealed a left torticollis, intention tremor and spastic paraparesis.Case 2: 29 years old with progressive hand tremor and cognitive decline. He had nystagmus, titubation and late crawling and was diagnosed with CP within his first year of life; becoming wheelchair-bound by age 9. Examination revealed titubation, action tremor, nystagmus and spastic quadriparesis.There were no other family history of similar symptoms or genetic disorder prior to their births.Results of InvestigationsMRI Brain suggested leukodystrophy in both cases. Genetic analysis revealed pathogenic mutation in the PLP1 gene(c454–322G>A;P?) confiriming a diagnosis of Pelizaeus Merzbacher Disease.ConclusionThe phenotypic similarities between PMD and CP especially in early childhood and the delayed progression of symptoms contributed to their misdiagnosis. We should look beyond Cerebral Palsy and consider PLP-related diseases in males with cerebral-palsy-like features regardless of a lack of family history.ihedinachindukwe@gmail.com