RESUMO
A rare metabolic disease, alpha-mannosidosis, is described in two siblings. Psychomotoric deficiency, deafness, coarse face and radiological changes in the skeletal system indicated an inherited lysosomal storage disease.
Assuntos
alfa-Manosidose/diagnóstico , Doenças Ósseas/diagnóstico por imagem , Criança , Pré-Escolar , Surdez , Feminino , Humanos , Masculino , Radiografia , alfa-Manosidose/genéticaRESUMO
The paper presents results concerning serum creatine kinase (CPK) activity before and at different times following the surgery of extraocular muscles at concomitant strabismus. The operation evokes statistically significant increase of CPK activity which tends to normalize during healing processes.
Assuntos
Creatina Quinase/metabolismo , Músculos Oculomotores/metabolismo , Estrabismo/cirurgia , Adolescente , Criança , Pré-Escolar , Humanos , Período Intraoperatório , Músculos Oculomotores/cirurgia , Período Pós-Operatório , Cicatrização/fisiologiaRESUMO
The authors described symptoms of oculocerebral Lowe's syndrome and presented a case of this disease. It concerned a 3-week old baby with congenital cataract, hyperaminoaciduria and increasing mental and psychomotor retardation. During 16-month observation, local and general symptoms typical of Lowe's syndrome appeared.
