RESUMO
Characterized by congenital heart defects (CHD) and elfin-like facies, Williams-Beuren syndrome (WS) is a multisystemic disorder that occurs approximately in 1 in 10 000 newborns [1]. WS is caused by a contiguous gene microdeletion of the Williams Beuren syndrome critical region (WBSCR) on chromosome 7q11.23, resulting in an abnormal elastin gene (ELN). There is a wide range of CHD in patients with WS, with supravalvular aortic stenosis (SAS) being the most common, and atypically the atrial septal defect (ASD) [2]. Few reports and reviews have linked the appearance of ASD to WS. Thus, data on the management of ASD secondary to WS is not well-documented. The following case report consists of the diagnosis and management of an ASD in a pediatric patient with WS.
RESUMO
A 5-year-old boy had recurrent vomiting and lethargy with lacticacidemia and ketoacidemia since birth. Lipoamide dehydrogenase deficiency was found in muscle and fibroblasts. Therapy with sodium dichloroacetate, thiamine, and carnitine was associated with reduction of the severity and frequency of the decompensation episodes and near normal plasma lactate levels. At 5 years of age, the patient has normal cognitive function and moderate motor impairment.
Assuntos
Acidose Láctica/metabolismo , Di-Hidrolipoamida Desidrogenase/deficiência , Cetose/metabolismo , Acidose Láctica/complicações , Acidose Láctica/tratamento farmacológico , Carnitina/uso terapêutico , Ácido Dicloroacético/uso terapêutico , Di-Hidrolipoamida Desidrogenase/metabolismo , Fibroblastos/metabolismo , Humanos , Lactente , Cetose/complicações , Cetose/tratamento farmacológico , Lactatos/sangue , Masculino , Transtornos dos Movimentos/etiologia , Músculos/metabolismo , Tiamina/uso terapêuticoRESUMO
A 5-year-old girl with a previous diagnosis of cerebral palsy, nonprogressive psychomotor retardation, and hypotonia was found to excrete excessive fumaric acid in urine. Fumarate hydratase activity in skin fibroblasts was 10% of the control value. This case underscores the clinical heterogeneity of neurometabolic disorders and the importance of organic acid analysis in the diagnosis of static encephalopathy.
Assuntos
Paralisia Cerebral/diagnóstico , Fumarato Hidratase/deficiência , Pré-Escolar , Erros de Diagnóstico , Feminino , Fumaratos/urina , Humanos , Deficiência Intelectual/diagnóstico , Erros Inatos do Metabolismo/diagnóstico , Hipotonia Muscular/diagnóstico , Succinatos/urina , Ácido SuccínicoRESUMO
Two kindreds with glutaric aciduria type I were investigated. Of 20 family members who underwent neurologic examination and organic acid analysis of urine, 18 had glutaryl-coenzyme A dehydrogenase (GDH) activity determined in cultured skin fibroblasts and 12 had computed tomographic brain scans. Six homozygotes were identified who had undetectable GDH activity and identical biochemical profiles (consisting of glutaric and 3-hydroxyglutaric aciduria, reduced serum carnitine concentrations, and frontotemporal atrophy). Serial computed tomographic brain scans of one homozygous infant demonstrated the sequential postnatal development of this atrophy during 3 years before the development of clinical manifestations. In three of the six homozygotes, including the father in one kindred, there were no clinical manifestations of glutaric aciduria type I. These findings raise questions about the value of prenatal diagnosis in predicting clinical manifestations in homozygous newborn infants.