*Correspondence: claupolloni@gmail.com.
Abstract
Case Presentation: M.S.D, a female child, firstborn of non-consanguineous parents, had normal development
until the age of four when she started to develop progressive foots deformities, decreased
sensitivity, gait alteration, and frequent falls. On examination, she had cavus feet
with toes retraction, greater plantar arch cavitation, steppage gait pattern, abolished
osteotendinous reflexes in the lower limbs with reduced strength, calf hypotrophy,
and reduced thermal and painful sensitivity distally in lower limbs. She progressed
rapidly, requiring orthotics and surgical correction of deformities. After three years,
she developed reduced strength and hand deformities. Molecular study with new-generation
sequencing identified a pathogenic heterozygous alteration in the MFN2 gene. Father
and mother were asymptomatic on examination.
Discussion: Charcot-Marie-Tooth (CMT) syndrome is not a single disease but rather a group of
neuropathies, is the most frequent hereditary neuropathy, affecting 1 in every 2,500
people. It refers to a group of disorders characterized by chronic hereditary sensory
and motor polyneuropathy. Individuals with CMT present with symmetric and slowly progressive
distal motor neuropathy, usually beginning in the first to third decade and resulting
in weakness and muscle atrophy often associated with sensory loss. More than 80 different
genes are associated with CMT. The diagnosis is based on characteristic findings,
family history, electromyography, and molecular genetic testing. The absence of a
family history does not eliminate the possibility of the disease. Mitofusin-2 is a
protein encoded by the MFN2 gene. Mutations in MFN2 (most commonly autosomal dominant)
cause CMT type 2A, the most common axonal form of CMT, which is clinically heterogeneous.
Symptoms begin on average at age 7 or 8. Childhood onset of CMT2A is the most predictive
marker of significant disease severity. Unfortunately, there is currently no specific
treatment. The goal of this study is to report the case of a patient with CMT who
presented symptoms early in childhood with rapid progression, and to review the literature.
Final Comments: Charcot-Marie-Tooth disease is rare but unfortunately, among neuropathies, it is
one of the most common. The case report underscores the importance of recognizing
and managing patients with CMT syndrome and conducting genetic investigations to achieve
early diagnosis, which can significantly improve patients' quality of life.
