RESUMO
OBJECTIVE: To examine levels of lactate (LA) and pyruvate (PA) in both blood and cerebrospinal fluid (CSF) in patients with Menkes disease (MNK). STUDY DESIGN: A nationwide survey involving a retrospective review of medical records or medical record summaries of 42 male patients with MNK born between 1993 and 2008 were performed, and the genetic analysis of their ATP7A gene was reviewed. RESULTS: In these patients, LA and PA levels and the lactate vs pyruvate ratio (L/P ratio) at diagnosis in both blood and CSF were abnormally high. There were no significant differences in LA levels, PA levels, and the L/P ratio between blood and CSF at diagnosis (P > .05). There was also no correlation between LA levels, PA levels, and the L/P ratio, and age at measurement (P > .05). There was no or slight metabolic acidosis, as analyzed by blood gas analysis, in 7 patients. During treatment with subcutaneous injections of copper-histidine, LA and PA levels and the L/P ratio in both the blood and CSF decreased. CONCLUSION: Our findings suggest that LA and PA levels, and in particular, the L/P ratio, and blood gas analysis can be used to guide the diagnosis and management of MNK.
Assuntos
Ácido Láctico/sangue , Ácido Láctico/líquido cefalorraquidiano , Síndrome dos Cabelos Torcidos/sangue , Síndrome dos Cabelos Torcidos/líquido cefalorraquidiano , Ácido Pirúvico/sangue , Ácido Pirúvico/líquido cefalorraquidiano , Criança , Pré-Escolar , Humanos , Lactente , Masculino , Estudos RetrospectivosRESUMO
Menkes disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. The investigation disclosed pilli torti and thrycorrexis nodosa in the hair, low serum levels of both copper and ceruloplasmin, brain magnetic resonance study showed atrophy and white matter hypointensities on T1-weighted images, electroencephalogram reveals moderate background activity disorganization and epileptiform activity, and muscle biopsy with type 2 fiber atrophy. The clinical, laboratorial, genetic, muscle biopsy and neurophysiological findings in Menkes disease are discussed.
Assuntos
Ceruloplasmina/análise , Cobre/sangue , Síndrome dos Cabelos Torcidos/diagnóstico , Eletroencefalografia , Eletromiografia , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Síndrome dos Cabelos Torcidos/sangueRESUMO
Menkes disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. The investigation disclosed pilli torti and thrycorrexis nodosa in the hair, low serum levels of both copper and ceruloplasmin, brain magnetic resonance study showed atrophy and white matter hypointensities on T1-weighted images, electroencephalogram reveals moderate background activity disorganization and epileptiform activity, and muscle biopsy with type 2 fiber atrophy. The clinical, laboratorial, genetic, muscle biopsy and neurophysiological findings in MenkesÆ disease are discussed.
A doença de Menkes é uma rara desordem neurodegenerativa causada por defeito intracelular na proteína transportadora do cobre. Descrevemos um paciente de 7 meses, masculino, com crises convulsivas, hipoatividade e ausência de contato visual. A investigação demonstrou pilli torti e thrycorrexis nodosa; níveis séricos baixos de ceruloplasmina e cobre; RNM de crânio com atrofia e redução de sinal da substância branca (imagens em T1); eletroencefalograma com moderada desorganização da atividade de base e atividade irritativa; e biópsia muscular com atrofia de fibras do tipo 2. As características clínicas, laboratoriais, genéticas, biópsia muscular e estudo neurofisiológico na doença de Menkes são discutidas.
Assuntos
Humanos , Lactente , Masculino , Ceruloplasmina/análise , Cobre/sangue , Síndrome dos Cabelos Torcidos/diagnóstico , Eletroencefalografia , Eletromiografia , Imageamento por Ressonância Magnética , Síndrome dos Cabelos Torcidos/sangueRESUMO
Menkes disease is an X-linked genetic disorder of copper transport that results in death from severe progressive neurodegeneration by the age of 3 years. We report here our 17 years' experience with the treatment of Menkes disease with subcutaneous administration of copper-histidine. Two patients (16 and 6 years of age) whose therapy was begun within 1 month of birth have done well neurologically. The other five patients have done poorly despite treatment initiated at 2 to 7 months of age. Copper-histidine therapy may be an effective treatment if started early.