RESUMEN
BACKGROUND: Guillain-Barre syndrome (GBS) is an inflammatory polyradiculoneuropathy characterized by rapidly evolving weakness and areflexia, reaching nadir within 4 weeks. Data on the characteristic of GBS in Saudi Arabia are limited. This study aimed to describe the clinical, electrophysiological, and laboratory characteristics and outcome of a multicenter cohort of patients with GBS. METHODS: This is a retrospective multicenter nationwide study. Patients who had GBS, identified through Brighton Criteria, between January 2015 and December 2019 were included. Data collected included demographics, clinical features, cerebrospinal fluid profile, reported electrophysiological patterns, treatment, and outcome. Reported GBS subtypes were compared using chi-square, Fisher's exact, or Mann-Whitney U tests, as appropriate. RESULTS: A total of 156 patients with GBS were included (men, 61.5%), with a median age of 38 (interquartile range, 26.25-53.5) years. The most commonly reported antecedent illnesses were upper respiratory tract infection (39.1%) and diarrhea (27.8%). All but two patients (98.7%) had weakness, 64.1% had sensory symptoms, 43.1% had facial diplegia, 33.8% had oropharyngeal weakness, 12.4% had ophthalmoplegia, and 26.3% needed mechanical ventilation. Cytoalbuminological dissociation was observed in 69.1% of the patients. GBS-specific therapy was administered in 96.8% of the patients, of whom 88.1% had intravenous immunoglobulin, and 11.9% had plasmapheresis. Approximately half of the patients were able to walk independently within 9 months after discharge, and a third regained the ability to walk independently thereafter. Death of one patient was caused by septicemia. Acute inflammatory demyelinating polyradiculoneuropathy was the most commonly reported GBS subtype (37.7%), followed by acute motor axonal neuropathy (29.5%), and acute motor-sensory axonal neuropathy (19.2%). CONCLUSION: The clinical and laboratory characteristics and outcome of GBS in the Arab population of Saudi Arabia are similar to the international cohorts. The overall prognosis is favorable.
Asunto(s)
Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/terapia , Adolescente , Adulto , Anciano , Femenino , Síndrome de Guillain-Barré/sangre , Síndrome de Guillain-Barré/epidemiología , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Masculino , Persona de Mediana Edad , Plasmaféresis/métodos , Pronóstico , Respiración Artificial/métodos , Estudios Retrospectivos , Arabia Saudita/epidemiología , Resultado del Tratamiento , Adulto JovenRESUMEN
Hereditary axonal motor and sensory neuropathy or Charcot-Marie-Tooth type 2 (CMT2) is a common inherited peripheral neuropathy. Major symptomatologic signs vary from minimal to significant weakness and loss of sensation, feet usually affected more than hands. It may also cause visual acuity impairment, hearing loss, and skeletal deformity. CMT2 classification is based on the clinical, electrophysiological, and genetic inheritance pattern. Dominant CMT2 is classified from CMT2A to CMT2N and recessive CMT2 into CMT2B1 and CMT2B2. CMT2A is the most frequent subtype of CMT2 and caused by mutations in the mitofusin 2 (MFN2) gene. We hereby report a Saudi Arabian CMT2A patient with a variant c.58C>T of the MFN2 gene mutation.