452 - Charcot Marie Tooth, a disease with many faces

Friday, February 23, 2024

5:00 PM – 6:30 PM EDT

Presenting Author(s)

Mg

Marwa ghanmi, MD (she/her/hers)

assistant professor in physical medicine and rehabilitation
university hospital of kairouan
sahloul, Sousse, Tunisia

Co-Author(s)

zM

zeineb Mrizak, MD

PMR resident
university hospital of sahloul
sousse, Sousse, Tunisia
NE

Nedra Elfeni, MD

assistant professor of PMR
university hospital of kairouan
sousse, Sousse, Tunisia
rm

rihab moncer, MD

assistant professor of PMR
university hospital of sahloul
sousse, Sousse, Tunisia
sM

sahbi Mtawaa, MD

Associate Professor of PMR
university hospital of kairouan
sousse, Sousse, Tunisia

Case Diagnosis: We report three cases of Charcot-Marie Tooth disease with different manifestations. The first two are siblings , female of 19 and male of 21. the third one, is a 56 years old male.

Case Description: the siblings both have cavus feet causing for walking to be impossible for the male and unstable for the female patient. They both had incomplete dorsiflexion and a shortened achilles tendon of the feet. Mutation of the ERG2 gene was found in both of them. They have had a prescription of physical therapy and have been referred to surgery. The third case, never symptomatic until recent complaint of low back pain and hindfoot pain in long walks. On examination, he had cavus feet, diminished sensation of the feet, limited dorsiflexion, decreased tendon reflexes and amyothtrophy of intrinsic muscles of the feet. He had a prescription of physiotherapy and plantar insole.

Discussions: Charcot-Marie-Tooth disease (CMT) is one of a group of disorders that cause damage to the peripheral nerve. It is a rare hereditary disease that may show in different forms that varies in severity. A systematic neurological examination consolidated by EMG help set the diagnosis.

Conclusions: Severity of CMT may vary significantly. Physicians should consider the diagnosis whenever they face patients with plantar cavus and peripheral neurological symptoms.