STARTED FROM THE BOTTOM, NOW WE'RE HERE: THE UNRELENTING CASE OF CHARCOT MARIE TOOTH DISEASE FROM ANKLE WEAKNESS, TO VENOUS THROMBOEMBOLI, TO VENTILATOR DEPENDENCE

Abstract

TYPE: Case Report TOPIC: Genetic and Developmental Disorders INTRODUCTION: Charcot Marie Tooth Disease Type 4J (CMT4J) is a rare inherited peripheral neuropathy caused by mutations of the lipid phosphatase FIG4 gene. Severe forms may lead to respiratory dysfunction. CASE PRESENTATION: A 44 year old male had an initial complaint of falls due to bilateral foot drop. Nerve conduction studies demonstrated axonal and demyelinating polyneuropathy. This raised suspicion for chronic inflammatory demyelinating polyneuropathy. He was started on intravenous immunoglobulin treatments and corticosteroids with no improvement, and soon he became wheelchair bound. 3 months after initial presentation, he developed shortness of breath and chest pain; he was diagnosed with provoked bilateral pulmonary emboli with pulmonary infarcts and started on rivaroxaban. Pulmonary function testing revealed severe restrictive lung disease with decreased respiratory muscle force necessitating a non-invasive auto-titration ventilation device (AVAPS-AE). Genetic testing performed at 4 months since initial symptoms revealed a heterozygous missense variant in the FIG4 gene consistent with CMT4J. 6 months after initial presentation, he went into cardiac arrest due to hypercapnic respiratory failure; return of spontaneous circulation was achieved, and eventually he underwent a tracheostomy and became ventilator dependent. DISCUSSION: CMT4J is a rapidly progressive pure motor neuron type of CMT which mimics amyotrophic lateral sclerosis. This case highlights the course of the disease as it relates to the timing of symptom onset, diagnosis, and the most crippling complication that is respiratory failure. CONCLUSIONS: Peripheral neuropathies, especially in the benign phases, should provoke early and broad screening, genetic testing, and advanced planning with regard to the devastating sequelae of ascending neuromuscular weakness. DISCLOSURE: Nothing to declare. KEYWORD: Charcot Marie Tooth