Management of contracture in a patient with Crisponi Syndrome: A Case Report

Case Diagnosis: Upper extremity contractures secondary to Crisponi syndrome

Case Description or Program Description: A 18 year old female with Crisponi syndrome was referred by neurology for Botox injections for a presumed diagnosis of bilateral upper extremity spasticity. She has been connected to speech, occupational, and speech therapies since she was an infant yet was formally genetically tested and diagnosed in 2012. She has a history of scoliosis surgery in 2016 and is independent in her ADLS and her iADLs.

Setting: outpatient general PM&R clinic in an academic medical center

Assessment/Results: Physical exam: Appearance: dysmorphic features- triangular face, high forehead, low set ears and downturned corners of the mouth. Neurologic: Hypertonia with brisk deep tendon reflexes, and signs of mild motor apraxia. Musculoskeletal: Globally decreased muscle mass, bilateral elbow contractures, camptodactyly, and limited ROM on bilateral shoulders, elbows, wrists, and fingers causing difficulties in ambulation.

Results: Given that the patient demonstrated contractures on exam not spasticity, Botox injections not currently advised. Will consider Botox after increased strength. Advised to continue current PT and OT for strengthening and stretching.

Discussion (relevance): Crisponi syndrome is an extremely rare condition (~100 reported cases). Pathophysiology involves autosomal recessive mutation in the cytokine-like factor 1 (CRLF1) gene, which plays an important role in neuronal development and regulation through expression of ciliary neurotrophic factor receptor (CNTFR). Mutations lead to abnormal central nervous system development and autonomic dysfunction, including dysmorphic features, developmental delay, hypo/hypertonia, respiratory problems, and feeding difficulties. Multidisciplinary management is essential and involves neurology, pulmonology, speech and feeding therapy, and PT.

Conclusions: This case report of Crisponi syndrome demonstrates the benefit of involving physiatrists in management of rare conditions that require a multidisciplinary team. Physiatrists allow for proper evaluation and guidance in managing musculoskeletal and neurological systems, as seen in this patient with an incredibly rare disease.