ABSTRACT
We present a case report that a longitudinal calf MR evaluation was performed for a patient with Charcot-Marie-Tooth disease who underwent bilateral reconstructive foot surgeries. A 39 years-old female was referred to our department because of severe bilateral cavus foot deformities and difficulty to walk. On radiological findings, severe bilateral cavus foot deformities were confirmed. On MR findings, fatty infiltrations were detected in the wide range of bilateral lower leg compartments. Difficulty to walk aggravated despite of the conservative treatment, so bilateral reconstructive foot surgeries were performed. She acquired plantigrade and better walking function postoperatively. Two years after surgery, no recurrence of cavus foot deformity was observed, but claw toe deformities and fatty infiltrations were mildly progressing. Since CMT is slowly progressive, we need to conduct a careful follow-up.
ABSTRACT
We present a case report that a longitudinal calf MR evaluation was performed for a patient with Charcot-Marie-Tooth disease who underwent bilateral reconstructive foot surgeries. A 39 years-old female was referred to our department because of severe bilateral cavus foot deformities and difficulty to walk. On radiological findings, severe bilateral cavus foot deformities were confirmed. On MR findings, fatty infiltrations were detected in the wide range of bilateral lower leg compartments. Difficulty to walk aggravated despite of the conservative treatment, so bilateral reconstructive foot surgeries were performed. She acquired plantigrade and better walking function postoperatively. Two years after surgery, no recurrence of cavus foot deformity was observed, but claw toe deformities and fatty infiltrations were mildly progressing. Since CMT is slowly progressive, we need to conduct a careful follow-up.
ABSTRACT
X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), caused by AIFM1 (Apoptosis-Inducing Factor, Mitochondrion associated 1) mutations and associated with deafness and cognitive impairment, is a rare subtype of Charcot-Marie-Tooth disease. Here, we report a novel missense variant of AIFM1 in a X-linked recessive Chinese family with childhood-onset, slowly progressive, isolated axonal motor and sensory neuropathy. Calf magnetic resonance imaging revealed fatty infiltration and atrophy severely involving the muscles of peroneal compartment. Pathologies exhibited abnormal mitochondrial morphology and accumulation in axoplasm of nerve fiber and subsarcolemmal area of muscle. A hemizygous variant (c.513G>A, p.Met171Ile) in the family was identified and was classified as likely pathogenic according to the standards and guidelines of the American College of Medical Genetics and Genomics. Our report expands the genetic spectrum of diseases related to AIFM1 mutations and indicates that fatty infiltration and atrophy of muscles in the peroneal compartment may be a feature of CMTX4 in early stage.