Pediatrics
Nanichi Ramos Roldan, n/a
Attending Physician
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
Case of an 11-year-old male with suspected Charcot Marie Tooth (CMT) presenting with unsteady gait and high arched feet. He has been clumsy since early childhood, fatigues with long distances, has difficulty with balance and difficulty keeping up with peers. He has difficulty with buttons, zippers and tying shoes. He was previously in speech therapy due to speech difficulties that have now resolved. Family history is remarkable for a 21-year-old sister with similar presentation. He has undergone workup with nerve conduction studies, and electromyography that was consistent with a pure sensory polyneuropathy. His physical exam is pertinent for scoliotic curvature, pes cavus, tight heel cords, mild hand intrinsics and ankle dorsiflexion weakness, absent deep tendon reflexes in bilateral patellar and achilles, impaired sensation, vibration and proprioception, positive Romberg’s, dysmetria and ataxic gait. Genetic testing for Friedreich’s ataxia sent and remarkable for >100 GAA repeats in FXN gene confirming the diagnosis.
Discussions:
Friedreich’s Ataxia usually presents between 10-15 years of age. It is caused by a mutation in FXN gene leading to production of abnormal protein called frataxin. This genetic mutation causes progressive nerve damage, leading to lack of coordination that progresses over time. It is a multi-system disorder that usually presents with gait abnormalities, progressive ataxia, dysarthria and loss of position and vibration sense, pes cavus, hammertoes and intact cognition.
Conclusions:
Charcot Marie Tooth and Friedreich’s Ataxia typically have overlapping presenting symptoms including gait abnormalities, foot deformities, weakness and sensory impairments. It is essential to differentiate between these two diagnoses as patients with Friedreich’s Ataxia can also present with dysarthria, scoliosis, cardiac abnormalities, glucose intolerance, hearing impairment, and vision impairment requiring further work up and/or treatment.
