RESUMEN
An infant and his uncle, both with adrenal hypoplasia congenita, shared the same DAX1 mutation. The adolescent uncle had hypogonadotropic hypogonadism, but the infant had a normal minipuberty of infancy. These observations suggest differences in the physiologic mechanisms regulating the hypothalamic-pituitary-gonadal axis in infancy and adolescence.
Asunto(s)
Insuficiencia Suprarrenal/genética , Hipogonadismo/genética , Pubertad/fisiología , Proteínas Represoras , Adolescente , Insuficiencia Suprarrenal/congénito , Insuficiencia Suprarrenal/fisiopatología , Receptor Nuclear Huérfano DAX-1 , Proteínas de Unión al ADN/genética , Mutación del Sistema de Lectura , Gónadas/fisiología , Humanos , Hipogonadismo/fisiopatología , Sistema Hipotálamo-Hipofisario/fisiología , Recién Nacido , Masculino , Pubertad/genética , Receptores de Ácido Retinoico/genética , Factores de Transcripción/genéticaRESUMEN
Complex glycerol kinase deficiency is a contiguous gene syndrome consisting of a deletion of the glycerol kinase locus, together with the genes for adrenal hypoplasia congenita or Duchenne muscular dystrophy or both. We describe an infant with complex glycerol kinase deficiency and mildly dysmorphic features similar to those seen in other patients, including an "hourglass" appearance of the middle of the face; hypertelorism; rounded palpebral fissures; esotropia; wide, flattened earlobes; and a downturned mouth. The combination of medical history and characteristic facies should prompt the request for specific laboratory tests diagnostic for this potentially treatable condition.
Asunto(s)
Insuficiencia Suprarrenal/genética , Cara/anomalías , Glicerol Quinasa/deficiencia , Glicerol Quinasa/genética , Distrofias Musculares/genética , Insuficiencia Suprarrenal/congénito , Insuficiencia Suprarrenal/diagnóstico , Insuficiencia Suprarrenal/terapia , Humanos , Recién Nacido , Masculino , Distrofias Musculares/congénito , Distrofias Musculares/diagnóstico , Distrofias Musculares/terapia , Fenotipo , SíndromeRESUMEN
Pediatric cases have played historic and precedent-setting roles in DNA forensics. DNA fingerprinting is a powerful tool for the pediatrician in cases of physical and sexual abuse and when issues arise regarding identification and familial relationships. If this technology is to be utilized effectively, the physician must know how to collect and document specimens. The pediatrician needs to be cautious in making referrals for commercial DNA banking. Whereas well-maintained and protected DNA repositories can be extremely valuable when there are medical and other appropriate indications, there are very real concerns about commercial DNA banking solely for purposes of identification. Pediatricians should recognize that this technology can be applied in novel but important new ways in their practices. For example, at the first indication of a possible mix-up of babies in the nursery, this should be acknowledged and rapidly resolved through DNA profiling of the parents and the neonates.
Asunto(s)
Dermatoglifia del ADN/métodos , Pediatría/métodos , Adolescente , Adulto , Abuso Sexual Infantil , Testimonio de Experto , Femenino , Medicina Legal/métodos , Humanos , Masculino , Paternidad , Polimorfismo Genético , Violación , Manejo de Especímenes/métodos , Estados UnidosAsunto(s)
Proteínas Sanguíneas/análisis , Fibrosis Quística/diagnóstico , Trastornos de la Nutrición del Lactante/diagnóstico , Tripsina/sangre , Fosfatasa Alcalina/sangre , Colesterol/sangre , Fibrosis Quística/complicaciones , Fibrosis Quística/terapia , Humanos , Trastornos de la Nutrición del Lactante/etiología , Trastornos de la Nutrición del Lactante/terapia , Recién NacidoAsunto(s)
Agranulocitosis/complicaciones , Enfermedad del Almacenamiento de Glucógeno Tipo I/complicaciones , Neutropenia/complicaciones , Niño , Preescolar , Cloruros/farmacología , Ensayo de Unidades Formadoras de Colonias , Femenino , Enfermedad del Almacenamiento de Glucógeno Tipo I/sangre , Granulocitos , Humanos , Lactante , Recuento de Leucocitos , Litio/farmacología , Cloruro de Litio , Monocitos/efectos de los fármacos , NeutrófilosRESUMEN
A girl with hereditary tyrosinemia, diagnosed at 6 months of age, was treated with a diet restricted in phenylalanine and tyrosine. At 9 1/2 years of age she developed an acutely enlarged liver and spleen, and the diagnosis of hepatocarcinoma was made. The patient received a liver transplant and tyrosine metabolites became normal while she was receiving a regular diet. Three months later, an infected thrombosis of the portal vein caused her death. Liver transplant appears to be an effective method of enzyme replacement in tyrosinemia and should be considered for prevention of hepatoma.