Disclosures: Samuel S. Jacob, DO: Nothing to disclose

Case Description: Patient presented to clinic for evaluation of gait dysfunction. She had history which included intellectual disability, behavioral disorder and seizures. As per family, patient has had multiple falls throughout her life. On physical exam, there was increased tone noted in both lower extremities, and decreased foot dorsiflexion range of motion and strength. On gait evaluation, with her current AFOs, patient had increase toe strike without heel strike, scissoring and bilateral genu recurvatum.

Setting: Academic Outpatient Physical Medicine and Rehabilitation Clinic

Patient: 24-year-old woman with congenital citrullinemia

Assessment/Results: Patient was prescribed bilateral custom molded AFOs with hinged joint, adjustable posterior stop, instep strap, full footplate and flexible toe with marked improvement in overall gait dysfunction.

Discussion: Citrullinemia is a disorder of the uric acid cycle, resulting in accumulation of ammonia in the blood. Symptoms include somnolence, decreased appetite, vomiting and irritability. Affected patients can later suffer from muscle weakness, seizures, behavioral/learning disorders and spasticity. This is the first case report, to our knowledge, that discusses the physiatric evaluation of gait dysfunction that citrullinemia can cause. Given the musculoskeletal limitations and gait dysfunction, there is great potential for Physiatrist intervention with anti-spasmodic agents, management of pain and comprehensive physical and occupational therapy regiments to optimize patient independence or ease with care giver tasks. We will discuss the citrullinemia, its pathophysiology, clinical presentation, and its routine medical management.

Conclusion: Citrullinemia is a rare genetic disorder that can present with gait dysfunction and symptoms consistent with cerebral palsy. A comprehensive physiatric evaluation through a multidisciplinary approach may help alleviate the severity of such symptoms and improve one’s functional outcomes and ultimately, quality of life.  

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/citrullinemia-more-than-just-a-missing-enzyme-a-case-report/