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Hirschsprung’s disease is an inherited disorder characterized by the absence of ganglion cells in the distal bowel. Neurocutaneous melanosis is a rare congen ital syndrome characterized by proliferation of melanin-producing cells in the skin and leptomeninges. The authors described a newborn patient with neurocutane ous melanosis associated with Hirschsprung’s disease. This male baby had congen ital hydrocephalus, large and multiple pigmented skin nevi, and severe abdominal distension. He showed marked hydrocephalus at birth and underwent a ventriculo -peritoneal shunt at the age of 5 days. Investigations for gut motility disorders revealed typical findings consistent with Hirschsprung’s disease in volving the rectosigmoid colon. He was surgically treated for Hirschsprung’s di sease after transanal endorectal pull-through at the age of 7 months. After set tlement of the ventriculo-peritoneal shunt, the transanal approach was of signi ficant value for keeping the intraperitoneal catheter clean. The association of developmental disorders of melanocytes and enteric ganglia, both of which origin ated from the neural crest, suggested the presence of mutual pathogenetic factor s in the patient.
Hirschsprung’s disease is an inherited disorder characterized by the absence of ganglion cells in the distal bowel. Neurocutaneous melanosis is a rare congen ital syndrome characterized by proliferation of melanin-producing cells in the skin and leptomeninges. The author describes a newborn patient with neurocutane ous melanosis associated with Hirschsprung’s disease. This male baby had congen italic hydrocephalus, large and multiple pigmented skin nevi, and severe abdominal distension. He showed marked hydrocephalus at birth and underwent a ventriculo-peritoneal shunt at the age of 5 days. Investigations for gut motility disorders revealed typical findings consistent with Hirschsprung’s disease in volving the rectosigmoid colon. He was surgically treated for Hirschsprung’s diase after transanal endorectal pull-through at the age of 7 months. After set tlement of the ventriculo-peritoneal shunt, the transanal approach was of signi ficant value for keeping the intraperitoneal cathete r clean. The association of developmental disorders of melanocytes and enteric ganglia, both of which origin ated from the neural crest, suggested the presence of mutual pathogenetic factor s in the patient.