Résumé
A Amiotrofia Espinal do tipo 1 (AME1) é uma doençagenética autossômica recessiva que afeta o corno anteriordo corpo dos neurônios motores da medula espinale dos núcleos motores de alguns nervos cranianos, tambémconhecida como Síndrome de Werdnig-Hoffmann.Dificilmente os pacientes completam um ano de idadesem suporte. No presente artigo descrevemos o caso deum menino de 2 anos e 10 meses de vida que apresentouao primeiro mês de vida dificuldade de sustentaçãode membros superiores, inferiores e região cervical,bem como infecções respiratórias de repetição. Foiavaliado com eletroneurografia e à pesquisa da deleçãodo gene SMN1 ? SMNT, 5q13, aventando a hipótese deAME1. A discussão revisa a apresentação clínica, métodosde diagnóstico, tratamento e aconselhamento genético.
The Spinal amyotrophy type 1 (AME1) is an autosomalrecessive genetic disease that affects the body?s anteriorhorn motor neurons of the spinal cord and motor nucleiof some cranial nerves, also known as Werdnig-HoffmannSyndrome. Hardly patients completing one year of agewithout support. In this paper we describe the case of aboy 2 years and 10 months old who presented the firstmonth of life difficulty of sustaining upper and lowerlimbs and neck, as well as respiratory infections. Wasassessed with electroneurography and research of SMN1gene deletion - SMNT, 5q13, puts forward the hypothesisAME1. The discussion reviews the clinical presentation,diagnosis, treatment and genetic counseling.
Résumé
Hypothyroidism in adults can manifest as myopathy. Often, other features of hypothyroidism are associated with it. But rarely, it can only present as muscle pseudohypertrophy along with cramps and weakness: a condition called Hoffman's Syndrome. This shows high elevation of muscle enzymes and myopathy patterns on electromyography. This condition responds very well to thyroxin replacement. The reporting of Hoffman's Syndrome is very are from Indian subcontinent, and probably this is the fist case from eastern India.