Disclosures: Justin Schappell, MD: No financial relationships or conflicts of interest

Case Diagnosis: A 3-year-old boy with a mutation in the melanoma-antigen-subfamily-like-2 (MAGEL-2) gene and clinical features consistent with Schaaf-Yang Syndrome (SYS) syndrome.

Case Description: The patient presented on referral from his pediatrician with concern for global developmental delay. Birth history was relatively unremarkable. He was noted to be a late walker (started after 15 months age) with speech delay and fine motor impairment. Genetic testing revealed a paternally inherited variant mutation in the MAGEL-2 protein which is encoded on the 15th chromosome, with associated phenotypes including SYS. In addition to global developmental delay, other notable findings included hyperactivity, autistic behaviors, and severely reduced pain sensation with tendency to frequently trip and fall. The latter resulted in recurrent sub-concussive head trauma and peripheral injuries throughout childhood. He has not displayed any hyperphagic behaviors as classically associated with Prader-Willi, a phenotype associated with MAGEL-2 mutation.

Setting: Tertiary care center – outpatient pediatric clinicAssessment/

Results: Exam revealed a hyperactive boy with significantly limited speech. He had syndromic facies with down slanting palpebral fissures. There was evidence of scattered bruising and a facial contusion from accidental trauma. He was prescribed a soft-shell helmet and connected with comprehensive, multidisciplinary therapies to address his developmental delays and work on body and limb awareness, balance, and motor control. Parents were counseled about monitoring skin in the setting of reduced pain sensation. Lastly, he was referred to Developmental Pediatrics for autism evaluation.

Discussion: This case highlights a patient with an exceedingly rare genetic condition (prevalence < 1/1,000,000) with overlapping but numerous distinct features that differentiate it from Prader-Willi syndrome. Consideration of these distinct features informed rehabilitation interventions and recommendations.

Conclusion: Pediatric patients with MAGEL-2 mutations have unique rehabilitation needs. A multidisciplinary rehabilitation approach is important to promote function and independence in patients with rare genetic mutations. Patient and family education is essential to monitor phenotype related presentations.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/rare-prader-willi-like-syndrome-with-unique-pediatric-rehabilitation-considerations-a-case-report/