Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center.

This study aimed to describe the clinical, genetic, and epidemiological features of Charcot-Marie-Tooth disease (CMT) in Brazilian patients from a tertiary center, and to compare our data with previously published findings. This retrospective observational study conducted between February 2015 and July 2020 evaluated 503 patients (94 families and 192 unrelated individuals), diagnosed with CMT. Clinical and neurophysiological data were obtained from electronic medical records and blood samples were used for genetic analyses. Multiplex ligation-dependent probe amplification was used to assess duplications/deletions in PMP22. Sanger sequencing of GJB1 was performed in cases of suspected demyelinating CMT. Targeted gene panel sequencing was used for the remaining negative demyelinating cases and all axonal CMT cases. The first decade of life was the most common period of disease onset. In all, 353 patients had demyelinating CMT, 39 had intermediate CMT, and 111 had axonal CMT. Pathogenic or likely pathogenic variants were identified in 197 index cases. The most common causative genes among probands were PMP22 (duplication) (n = 116, 58.88%), GJB1 (n = 23, 11.67%), MFN2 (n = 12, 6.09%), GDAP1 (n = 7, 3.55%), MPZ (n = 6, 3.05%), PMP22 (point mutation) (n = 6, 3.05%), NEFL (n = 3, 1.52%), SBF2 (n = 3, 1.52%), and SH3TC2 (n = 3, 1.52%). Other identified variants were ≤1% of index cases. This study provides further data on the frequency of CMT subtypes in a Brazilian clinical-based population and highlights the importance of rarer and previously undiagnosed variants in clinical practice.

Spinal hydatid cyst as cause of neurological injury in a patient from Brazilian amazon region.

Echinococcus granulosus infection is the primary cause of spinal hydatidosis. We describe the case of a 22-year-old man from the Brazilian Amazon region with crural spastic paraparesis and back pain. Radiological examinations showed multilocular lesions involving compression of the thoracic spine and rib injury. The patient underwent vertebrectomy with spinal stabilization and thoracoplasty with resectioning of the costal arch. Subsequently, the patient was prescribed oral treatment with albendazole. Marked recovery of the neurological status was achieved. Bone hydatid disease is rare, accounting for 0.5%-0.4% of all hydatid cysts, affecting the spine in 50% of cases. The treatment of choice is surgery accompanied by antiparasitic medication.