RESUMO
Three ambulant males with multicore myopathy, a rare congenital myopathy, are reported with nocturnal hypoventilation progressing to respiratory failure at the age of 9, 13, and 21 years. Deterioration in these individuals occurred over several months without any precipitating event. Patients had clinical evidence of nocturnal hypoventilation with hypoxaemia and hypercapnia. Forced vital capacity was significantly reduced (20 to 43% of predicted level). These parameters improved on institution of overnight ventilation using a BiPAP pressure support ventilator with face mask or nasal pillows with O2 saturation maintained above 90% overnight and an increase in forced vital capacity by as much as 100% (0.3 to 0.6 litres). This was matched by a symptomatic and functional improvement. Also present in these patients and not previously reported is the association of multicore myopathy with paraspinal contractures which produce a characteristic scoliosis described as a 'side-sliding' spine. This may be improved by spinal bracing or surgery.
Assuntos
Contratura/genética , Cifose/genética , Miopatia da Parte Central/genética , Insuficiência Respiratória/genética , Escoliose/genética , Adolescente , Adulto , Criança , Contratura/diagnóstico , Contratura/terapia , Seguimentos , Humanos , Cifose/diagnóstico , Cifose/terapia , Masculino , Miopatia da Parte Central/diagnóstico , Miopatia da Parte Central/terapia , Respiração com Pressão Positiva , Insuficiência Respiratória/diagnóstico , Insuficiência Respiratória/terapia , Escoliose/diagnóstico , Escoliose/terapiaRESUMO
Neurological complications of malignant infantile osteopetrosis are well recognised; successful bone marrow transplantation, when performed early in life, can prevent or halt some of them. In a subgroup of infants osteopetrosis is associated with primary retinal degeneration and/or generalised neurodegeneration. Bone marrow transplantation, in spite of being successful in correcting the osseous and haematological abnormalities, does not influence the progressive course of the neurodegenerative disorder. Thus, the recognition of this subgroup of infants with a very poor prognosis is essential before deciding on bone marrow transplantation.
Assuntos
Transplante de Medula Óssea , Doenças Neurodegenerativas/prevenção & controle , Osteopetrose/cirurgia , Seleção de Pacientes , Eletroencefalografia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Doenças Neurodegenerativas/etiologia , Exame Neurológico , Osteopetrose/complicações , Degeneração Retiniana/etiologia , Degeneração Retiniana/prevenção & controleRESUMO
The authors report the investigation, treatment, and progress of a unique case of neurocutaneous melanosis with syringomyelia. The suspected etiology, the pathology, and the variable clinical manifestations of this rare phakomatosis are recounted. The potential for malignant change and the possible mechanisms of syrinx development in this syndrome are discussed.
