RESUMO
Menkes disease is a rare fatal X-linked recessive disorder characterized by a generalized defect in intracelluar copper transport. The clinical features which arise from copper deficiency include progressive neurologic deterioration, epilepsy, hair and connective tissue abnormalities. Menkes disease is caused by mutations in the gene encoding the Menkes protein(ATP7A, copper transporting P-type ATPase), which is located on the long arm 13 of the X-chromosome. ATP7A mutations are found in 60 to 70% of the patients. We have experienced a case of Menkes disease in a 6-month-old male who showed developmental delay, myoclonic seizures and kinky hair. The serum copper and ceruloplasmin levels were low and the missense mutation(c.3352G>A, resulting in p.G1118S) in exon 17 of ATP7A gene was found. During 3-year follow-up, he regressed developmentally and showed brain atrophy, multiple bladder deverticula, and bony deformities.
Assuntos
Humanos , Lactente , Masculino , Braço , Atrofia , Encéfalo , Ceruloplasmina , Anormalidades Congênitas , Tecido Conjuntivo , Cobre , Epilepsia , Éxons , Seguimentos , Cabelo , Síndrome dos Cabelos Torcidos , Convulsões , Bexiga UrináriaRESUMO
Nutritional rickets, which is caused by deficiency of calcium or vitamin D, is a rare disease in developed countries. However some cases have been reported recently, that developed as a result of a restricted and nutritionally imbalanced diet due to atopic dermatitis and related food allergy. We treated two infant cases of nutritional rickets. The infants had suffered from atopic dermatitis, and were fed "Sun-sik" (a powdery mixture of several grains and fruits) without receiving cow's milk or any milk products in their diet. After an adequate supply of calcium and nutritional management, they were markedly improved.