Pelizaeus-Merzbacher disease (PMD): case report

Case presentation: FHTA, male, 12 years old, child of a non-consanguineous couple, history fetal distress, born at term, Apgar ⅞. Reported nystagmus since birth, difficulty controlling the head and hypotonia, despite maintaining eye contact, recognizing voices smiling. First evaluation with Pediatric Neurologist was 5 months clinical features horizontal vertical nystagmus, circumference 43.5 cm, axial poor cervical support, airway clearance without shoulder elevation, strength ⅘ in all four limbs, present, increased symmetrical deep reflexes and, anthropometric assessment below P3 percentile, stagnation. At on Magnetic Resonance Imaging (MRI), there delay CNS myelination. Neuroimaging repeated 3 8 same pattern hypomyelination. 4 molecular test performed confirming disease (Pelizaeus Merzbacher Syndrome) by presence duplication PLP1 gene, which encodes myelin proteolytic protein, X-linked recessive inheritance. Patient evolved delayed developmental milestones, currently walks some difficulty, short stature weight, lower limit, mild/moderate intellectual deficit, remains is more dependent for his daily activities than expected.