RESUMEN
Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in 5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the intestine. Most patients present during the neonatal period with the first meconium passage delayed beyond 24 h, abdominal distension and vomiting. Syndromes associated with HSCR include trisomy 21, Mowat-Wilson syndrome, congenital central hypoventilation syndrome, Shah-Waardenburg syndrome and cartilage-hair hypoplasia. Multiple putative genes are involved in familial and isolated HSCR, of which the most common are the RET proto-oncogene and EDNRB. Diagnosis consists of visualization of a transition zone on contrast enema and confirmation via rectal biopsy. HSCR is typically managed by surgical removal of the aganglionic bowel and reconstruction of the intestinal tract by connecting the normally innervated bowel down to the anus while preserving normal sphincter function. Several procedures, namely Swenson, Soave and Duhamel procedures, can be undertaken and may include a laparoscopically assisted approach. Short-term and long-term comorbidities include persistent obstructive symptoms, enterocolitis and soiling. Continued research and innovation to better understand disease mechanisms holds promise for developing novel techniques for diagnosis and therapy, and improving outcomes in patients.
Asunto(s)
Síndrome de Down , Enfermedad de Hirschsprung , Discapacidad Intelectual , Síndrome de Waardenburg , Recién Nacido , Humanos , Enfermedad de Hirschsprung/diagnóstico , Enfermedad de Hirschsprung/genética , Enfermedad de Hirschsprung/patología , Síndrome de Down/complicaciones , Síndrome de Waardenburg/complicaciones , Canal Anal , Discapacidad Intelectual/complicacionesRESUMEN
We present the case of a 45-day-old child with the chief complaint of failure to pass stools for 10 days. After initial investigation, the patient was found to have Hirschsprung's disease. However, with further examination and analysis, the extremely rare diagnosis of type 4 Waardenburg syndrome was made (also known as Shah-Waardenburg syndrome or Waardenburg-Hirschsprung's disease).
Asunto(s)
Enfermedad de Hirschsprung/diagnóstico , Síndrome de Waardenburg/diagnóstico , Preescolar , Estreñimiento/etiología , Humanos , Intestino Grueso/anomalías , Intestino Grueso/diagnóstico por imagen , Masculino , Examen Físico/métodos , Enfermedades RarasRESUMEN
Studies of coat color mutants have greatly contributed to the discovery of genes that regulate melanocyte development and function. Here, we generated Yy1 conditional knockout mice in the melanocyte-lineage and observed profound melanocyte deficiency and premature gray hair, similar to the loss of melanocytes in human piebaldism and Waardenburg syndrome. Although YY1 is a ubiquitous transcription factor, YY1 interacts with M-MITF, the Waardenburg Syndrome IIA gene and a master transcriptional regulator of melanocytes. YY1 cooperates with M-MITF in regulating the expression of piebaldism gene KIT and multiple additional pigmentation genes. Moreover, ChIP-seq identified genome-wide YY1 targets in the melanocyte lineage. These studies mechanistically link genes implicated in human conditions of melanocyte deficiency and reveal how a ubiquitous factor (YY1) gains lineage-specific functions by co-regulating gene expression with a lineage-restricted factor (M-MITF)-a general mechanism which may confer tissue-specific gene expression in multiple lineages.
Asunto(s)
Color del Cabello , Melanocitos , Factor de Transcripción Asociado a Microftalmía/metabolismo , Pigmentación , Síndrome de Waardenburg , Factor de Transcripción YY1/genética , Animales , Linaje de la Célula , Supervivencia Celular , Modelos Animales de Enfermedad , Regulación del Desarrollo de la Expresión Génica , Color del Cabello/genética , Humanos , Melanocitos/citología , Melanocitos/metabolismo , Ratones , Ratones Noqueados , Factor de Transcripción Asociado a Microftalmía/genética , Pigmentación/genética , Síndrome de Waardenburg/genética , Síndrome de Waardenburg/metabolismo , Factor de Transcripción YY1/metabolismoRESUMEN
El Síndrome de Waardenburg representa la forma más común de sordera congénita; es una condición pleitrópica, autosómica dominante, con penetrancia y expresividad variable. Se describen dos casos clínicos de Síndrome de Waardenburg tipo II. Las principales manifestaciones son la sordera sensorioneural congénita, alteraciones de la pigmentación pilosa y cutánea, puente nasal ancho, hipertricosis de las cejas, mandíbula cuadrada, encanecimiento prematuro y alteraciones neurológicas. Se revisan los criterios de diagnóstico de la enfermedad y los hallazgos asociados descritos de la literatura