Rationale: Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive trait and a rare disease characterized by abnormal myelin formation in the central nervous system. Since Pelizaeus and Merzbacher reported the pathology of PMD in the 1990s most studies have examined pharmacological treatments. No studies have reported the effects of rehabilitation on patients with PMD aimed at improving their functional abilities. We report the first case of improved development after rehabilitation in a patient with Pelizaeus-Merzbacher disease.
Patient concerns: A 1-month-boy developed focal seizures, nystagmus, and jerky head movements. He was brought to our outpatient clinic for rehabilitation of developmental delay at 11 months of age. He showed hypotonia, nystagmus, and developmental delay of 4 to 5 months in his gross and fine motor ability.
Diagnoses: Developmental delay in a patient with PMD.
Interventions: A child with PMD was hospitalized 3 times for 3 months and underwent rehabilitation to improve developmental delay. Developmental assessments were conducted before and after each admission for rehabilitation training.
Outcomes: Before training, the patient was unable to maintain a sitting position. After the first and second training sessions, his gross motor ability had improved, and he could sit with a mild assist. Fine motor function also improved. Before training, the patient was able to transfer a cube from one hand to the other. After training, he could perform a pincher grasp.
Lessons: Rehabilitation training can help PMD patients achieve maximal function and catch-up in their growth.