Unraveling the Enigma: A Case Study on Differentiating Pelizaeus-Merzbacher Disease from Presumed Cerebral Palsy

If a child exhibits signs of developmental delay and tonal problems, the first and foremost diagnostic label carried will be cerebral palsy. Since it's an umbrella diagnosis of movement disorders, it is assumed that any child who has signs of movement disorders and developmental delay will sit well under this diagnostic label. During evaluation time, the practicing physiotherapists and other medical practitioners have to use good clinical sense in determining whether the child is suffering from cerebral palsy or an alternate disease/disorder. Here we present a case of a child misdiagnosed as having cerebral palsy and later diagnosed as having Pelizaeus-Merzbacher Disease. The 3-year-old male child was experiencing developmental delay and movement disorders and was referred to the rehabilitation center for physiotherapy. He was undergoing physiotherapy services for improving his neck control and for controlling his spasticity. The child was not improving anymore, and his condition of spasticity was worsening. Hence the child was referred to a pediatrician. Brain MRI scans were done, which showed dysmyelination of white matter. Additional investigation and accumulation of descriptive family history established that the child is affected with Pelizaeus-Merzbacher disease (PMD), which is an X-linked recessive disorder affecting central nervous system myelination. Severe clinical features of PMD are progressive nystagmus, spasticity, tremor, hypotonia, ataxia, and psychomotor retardation occurring in infancy or early childhood. Hence, Pelizaeus-Merzbacher disease (PMD) can be proposed as a differential diagnosis in such a cerebral palsy-like patient.