Abstract Details

Title A Rare Case Of Dysferlinopathy With Recurrent Rhabdomyolysis

Topic Neuro Trauma, Critical Care, and Sports Neurology

Presentation(s) P15 - Poster Session 15 (12:00 PM-1:00 PM)

Poster/Presentation
Number 13-003

Objective
To report a rare case of Dysferlinopathy, presenting with recurrent rhabdomyolysis

Background

Dysferlin is a transmembrane protein involved in the calcium-mediated repair of the sarcolemma, myotubular differentiation, and regeneration. Dysferlinopathies are autosomal recessive disorders, presenting in teens or early twenties, associated with high serum Creatine Kinase(CK) levels and proximal limb weakness.

Design/Methods A 57-year-old Jamaican man with no known family history of neuromuscular disorder presented to the ER with complaints of intermittent calf pain, fatigue, dysarthria, generalized weakness, and muscle pain. He denied any fever, recent travel, or insect bites. On examination, he had mild proximal limb weakness, muscle tenderness, and hyperreflexia.

He had reported a similar episode of weakness associated with elevated CK levels about 10 years ago. He was also recently hospitalized three months ago, for similar symptoms and found to have elevated CK levels, which was attributed to recently initiated statin.

Results
Significant initial blood work showed elevated creatinine and mild elevation of CK. However, several hours into his presentation, he had developed increasing shortness of breath requiring intubation for acute hypercapnic respiratory failure. Repeat blood work showed markedly elevated CK level up to 30,605 U/L (reference range 24-204 U/L).

His workup included unremarkable MRI of the brain and cervical spine, and unremarkable blood work for infectious and immunological conditions including influenza, HIV, Lyme disease, hepatitis C, anti-nuclear antibody, Anti-Ro, Anti-La, Anti-Jo-1, carnitine, myositis, and myasthenia gravis panel. Given the recurrent episodes of rhabdomyolysis and hyperCKemia, he had a muscle biopsy and immunohistochemical stains for dysferlin showed focal patchy staining. Eventually, whole-exome sequencing was consistent with 2 mutations in the DYSF gene.

Conclusions This case represents an atypical manifestation of dysferlinopathy with severe recurrent rhabdomyolysis and in one instance leading on to respiratory failure. This case also highlights the importance of early muscle biopsy and genetic studies to assist with diagnosis.

Authors/Disclosures
Subhendu Rath, MBBS (Virginia Commonwealth University) PRESENTER	Dr. Rath has nothing to disclose.
Hamza Coban, MD (UConn Health Neurology)	Dr. Coban has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for EMD Serono.
Annie S. Daniel, MBBS (Department of Neurology , Hospital for Special Care , New Britain , Ct)	Dr. Daniel has nothing to disclose.

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Abstract Details