Dados do Trabalho

Título

RAPIDLY PROGRESSIVE CHARCOT-MARIE-TOOTH TYPE 2 SYNDROME IN A YOUNG CHILD: A CASE REPORT.

Apresentação do caso

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.

Discussão

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.

Comentários finais

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.

Referências (se houver)

Palavras Chave

Charcot-Marie-Tooth; neuropathies; Childhood

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

Without any conflict of interest

Área

Doenças neuromusculares