(Kiosk 1) The Need for Multidisciplinary Rehabilitation in Rare Genetic Disorders: Peters Plus Syndrome, a Case Report

Case Diagnosis: 35-year-old male with history of Peters Plus syndrome (PPS) with developmental delay, seizure disorder, and WDR37 gene mutation who presents for disease course management

Case Description: A 35-year-old-male with a history of PPS, developmental delay, and WDR37 gene mutation initially presented to the clinic to establish coordinated care for his condition, which includes Peter’s anomaly, short stature, and spasticity. He was referred to neurology for botulinum toxin injections for bilateral hip contractures and to pediatric orthopedic surgery due for limb abnormality management.

Discussion: PPS is an extremely rare congenital abnormality with estimated incidence less than 100 individuals worldwide. It is an autosomal recessive condition caused by mutations in the B3GLCT gene, typically presenting with Peters anomaly (an ocular disorder characterized by central corneal opacity) with systemic manifestations including facial abnormalities, intellectual disability, and limb abnormalities. There is a general lack of information regarding PPS and most studies focus predominantly on ophthalmologic management. However, as our patient demonstrates, it is necessary to have a multidisciplinary approach when treating the numerous clinical presentations of the disease. Like our patient, other patients with neuromuscular manifestations of PPS and other rare neuromuscular diseases benefit from early rehabilitation and treatment from physicians skilled with pediatric diseases

Setting: Tertiary Care Hospital, Outpatient Clinic

Assessment/Results: Despite initially presenting in his 30s, he was being managed by pediatric specialists in orthopedic surgery and neurology with experience managing pediatric neuromuscular diseases. He continues to have interdisciplinary management for PT, anti-spasticity management, and orthotic management.

Conclusion: PPS is not a well understood or documented condition. We highlight a unique case of this disease where an adult patient requires management from pediatric and neuromuscular specialists to deal with the disease manifestations. It's necessary to establish an interdisciplinary approach to management of rare neuromuscular diseases as patients benefit from rehabilitation and lifelong services from a team of specialized physicians.