Asunto(s)
Codón sin Sentido/metabolismo , Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH/genética , ARN Mensajero/metabolismo , Síndrome de Smith-Lemli-Opitz/genética , Adulto , Alelos , Células Cultivadas , Colesterol/metabolismo , Codón sin Sentido/genética , Análisis Mutacional de ADN , Femenino , Genotipo , Humanos , Recién Nacido , Masculino , Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH/metabolismo , Fenotipo , Embarazo , Síndrome de Smith-Lemli-Opitz/sangre , Síndrome de Smith-Lemli-Opitz/diagnóstico , Síndrome de Smith-Lemli-Opitz/metabolismoRESUMEN
We describe a male patient with a Y202H ornithine transcarbamylase deficiency gene mutation who had pancreatitis while taking a low-protein diet, citrulline, and sodium phenylbutyrate.
Asunto(s)
Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa/complicaciones , Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa/genética , Pancreatitis/etiología , Adolescente , Amilasas/sangre , Enfermedad Crónica , Citrulina/uso terapéutico , Terapia Combinada , Dieta con Restricción de Proteínas/efectos adversos , Nutrición Enteral/efectos adversos , Gastrostomía/efectos adversos , Humanos , Lipasa/sangre , Masculino , Mutación/genética , Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa/diagnóstico , Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa/terapia , Pancreatitis/sangre , Pancreatitis/enzimología , Fenotipo , Factores de RiesgoRESUMEN
A male patient with aphallia, anal stenosis, tetralogy of Fallot, multiple vertebral anomalies including sacral agenesis and central nervous system (CNS) malformations was born after a pregnancy complicated by poorly controlled maternal diabetes. Aphallia is an extremely rare abnormality and can be part of the urorectal septum malformation sequence (URSMS). While aphallia has not been reported in infants of diabetic mothers, urogenital malformations are known to occur with increased frequency. Two female products of pregnancies complicated by diabetes presented with multiple malformations including anal atresia and recto-vaginal fistula consistent with the diagnosis of URSMS. The three patients share CNS, cardiac, and vertebral anomalies, abnormalities secondary to abnormal blastogenesis and characteristic of diabetic embryopathy. URSMS is also caused by abnormal blastogenesis. Therefore, this particular malformation should be viewed in the context of the multiple blastogenetic abnormalities in the cases reported here. The overlap of findings of URSMS in our cases with other abnormalities of blastogenesis, such as VATER association or sacral agenesis is not surprising, as these associations are known to lack clear diagnostic boundaries.