472 - Timed and Targeted Rehabilitation of MPZ Mutation Neuromuscular Disease: A Case Report on Dejerine-Sottas Syndrome

Friday, February 23, 2024

5:00 PM – 6:30 PM EDT

Presenting Author(s)

MR

Muhammad S. Rizwan, DO

Resident Physician
SUNY Downstate
Piscataway, New Jersey, United States

Co-Author(s)

RE

Ricki Ehrenfeld, BS

Medical Student
Touro University College of Medicine
Brooklyn, New York, United States

Presenting Author(s)

Sanjeev Agarwal, MD

Chief of Service & Residency Program Director
SUNY Downstate Health Sciences University
Brooklyn, New York, United States

Co-Author(s)

GK

Getahun Kifle, MD

Attending
Kings County Hospital
Brooklyn, New York, United States

Case Diagnosis: 11 year old female with multiple spinal and lower limb deformities in the setting of MPZ Mutation Neuromuscular Disease

Case Description: An 11-year-old female with a known MPZ mutation presented for evaluation for a mobility device. This patient had a history of left hip dysplasia, scoliosis, and severe lower extremity contractures requiring left femur derotation and pelvic osteotomy, adductor tenotomy, hamstring release, and correction for right cavovarus deformity. She had been wheelchair-bound due to these deformities, but given increasing caregiver burden she sought evaluation for a new transfer wheelchair. However, she hadn't received rehabilitative or specialty services since childhood.

Discussions: Dejerine-Sottas syndrome is a rare, more severe form of Charcot-Marie-Tooth (CMT) disease, affecting fewer than 1 in 1,000,000 individuals. It is an autosomal-inherited disorder associated with MPZ, PMP22, and EGR2 genes, leading to defects in nerve proteins. The disease manifests in early childhood with severe motor and sensory impairments, progressing into early adolescence. It results in distal muscle weakness, gait disturbances, foot deformities, areflexia, kyphoscoliosis, and fasciculations. Currently, there is no cure, and treatment mainly focuses on support and requires an extensive interdisciplinary approach to minimize joint instability and pain. Without such care, individuals often experience disease progression, necessitating earlier surgical intervention.

Conclusions: This case presents a rare instance of Dejerine-Sottas syndrome, leading to progressive extremity weakness, contractures, and deformities requiring surgical correction. It underscores the critical importance of early rehabilitative intervention to prevent or delay the development of musculoskeletal deficits. Given the fluctuating nature of the disease, timely and targeted rehabilitative interventions in pediatric patients can be instrumental in preventing functional decline at an earlier stage.