RESUMO
A 15-year-old Japanese girl developed bulbar palsy and upper limb-dominant muscle weakness 2 weeks after the onset of an upper respiratory tract infection due to cytomegalovirus (CMV). Her symptoms resembled that seen in the pharyngeal-cervical-brachial variant (PCB) of Guillain-Barré syndrome (GBS). Although bulbar palsy usually continues for several months in PCB, her bulbar palsy was very mild and improved rapidly before intravenous immunoglobulin therapy was instituted. Serum anti-GT1a IgG antibody titer was elevated at the acute phase of the disease and gradually decreased. The bulbar palsy-dominant GBS is thought to relate to anti-GT1a antibody and Campylobacter jejuni infection in adult patients. Our Case report suggests that CMV can also induce the production of anti-GT1a antibody, thereby resulting in PCB. When one sees acute onset bulbar palsy and limb muscle weakness, the possibility of PCB, even in children, should be considered, thus compelling the need for serum anti-ganglioside antibody measurement.
Assuntos
Paralisia Bulbar Progressiva/etiologia , Infecções por Citomegalovirus/complicações , Síndrome de Guillain-Barré/etiologia , Síndrome de Guillain-Barré/fisiopatologia , Debilidade Muscular/etiologia , Adolescente , Braço/inervação , Braço/fisiopatologia , Paralisia Bulbar Progressiva/fisiopatologia , Feminino , Gangliosídeos/imunologia , Síndrome de Guillain-Barré/diagnóstico , Humanos , Imunoglobulina G/sangue , Imunoglobulinas Intravenosas/uso terapêutico , Debilidade Muscular/fisiopatologia , Músculo Esquelético/inervação , Músculo Esquelético/fisiopatologia , Músculos do Pescoço/inervação , Músculos do Pescoço/fisiopatologia , Doenças Faríngeas/etiologia , Doenças Faríngeas/fisiopatologia , Valor Preditivo dos Testes , Resultado do TratamentoRESUMO
A 7-year-old boy, who was noted to be a slow runner at the age of 2 years, had progressive muscle weakness and atrophy, preferentially affecting distal muscles. At 3 years of age, he had scoliosis and difficulty in standing on tip-toe. Serum creatine kinase was 1074IU/l. Muscle CT scan showed low-density areas in the lower legs and upper arms, but predominantly in the gastrocnemius and soleus muscles. Biopsy of the biceps brachii muscle showed moderate dystrophic changes with normal dysferlin expression on immunohistochemical and western blot analyses. Although muscle involvement mimicked that seen in Miyoshi myopathy (MM), the very early onset of the disease and scoliosis were quite unusual for MM. We, therefore, made the diagnosis of early onset dysferlin-positive distal muscular dystrophy, probably a new type of distal muscular dystrophy.
