RESUMO
Menkes disease (also known as kinky hair disease) is an X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by kinky hair, hypotonia, and generalized myoclonic seizures. Here, we report a case of Menkes disease in which the patient presented with progressive hypotonia and intractable seizures. A 4-month-old male infant visited our pediatric clinic for focal seizures with blinking eyes. He was generally hypotonic and suffered from malnutrition. The focal seizures became more frequent, and the patient became intractable to anti-seizure medications. An electroencephalogram (EEG) indicated diffuse cerebral dysfunction with focal seizure, and a brain magnetic resonance imaging (MRI) showed tortuous and ectatic intracranial arteries, as well as several ischemic lesions. A genetic analysis was performed, and a c.2473_2474del (p.Leu825fsX1) of the ATP7A gene was detected.
Assuntos
Humanos , Lactente , Masculino , Artérias , Piscadela , Encéfalo , Eletroencefalografia , Epilepsia , Cabelo , Imageamento por Ressonância Magnética , Desnutrição , Síndrome dos Cabelos Torcidos , Hipotonia Muscular , Doenças Neurodegenerativas , ConvulsõesRESUMO
Congenital complete atrioventricular heart block(CCAVB) is a rare disease of the newborn that carries significant mortality and has a heterogenous etiology. It may occur as a result of the presence of maternal autoantibodies that are transferred to the fetus and affect the fetal heart or be associated with a congenital structural abnormality of the heart. Infants with CCAVB are at risk of diminished cardiac output and the subsequent development of congestive heart failure. We report two cases of CCAVB in newborns treated with pacemaker implantation after birth. The first case revealed CCAVB with patent ductus arteriosus and anti- Ro(SS-A) antibody in both of the mother and the newborn. The second case was accompanied with mitral regurgitation and tricuspid regurgitation, but anti-Ro(SS-A) antibody was absent in both of the mother and the newborn. Pacemaker implantation was performed for both cases and the result was favorable. We concluded that our experience supports that the pacemaker implantation in the newborn is feasible and beneficial in the treatment of CCAVB.