Rehabilitative management of an infant with Pelizaeus–Merzbacher disease

Abstract

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.

Neuromuscular electrical stimulation for motor recovery in pediatric neurological conditions: a scoping review

“…In the 35 articles 24–58 on NMES in pediatric patients without CP, there were a total of 353 participants (293 unique participants) with a mean age of 7 years 4 months (range 1wk–38y). All but one study had participants who were 22 years old or younger; participants in the Oshima et al.…”

Pelizaeus-Merzbacher Disease with PLP1 Exon 1 Duplication, Previously Misdiagnosed as Cerebral Palsy: a Case Report

“…However, such treatments have been not yet well established [ 16 ]. Furthermore, there are few studies about effectiveness of rehabilitation treatment on PMD patients; only a case report about rehabilitative management in an infant PMD patient was introduced [ 17 ]. From our case, we found comprehensive rehabilitation can achieve functional improvement in an adult with PMD previously misdiagnosed as CP despite late diagnosis and late intervention.…”

Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact

“…3 Physical therapy is used to improve quality of life. 6 Disease-modifying treatment approaches for Pelizaeus-Merzbacher disease are currently being investigated in nonclinical studies with encouraging results. [7][8][9][10][11] Studies that investigate the natural disease course and clinical phenotypes of Pelizaeus-Merzbacher disease have been small and often limited to individual case series.…”