Neurocutaneous melanosis associated with Hirschsprung's disease in a male neonate


      Hirschsprung's disease is an inherited disorder characterized by the absence of ganglion cells in the distal bowel. Neurocutaneous melanosis is a rare congenital syndrome characterized by proliferation of melanin-producing cells in the skin and leptomeninges. The authors described a newborn patient with neurocutaneous melanosis associated with Hirschsprung's disease. This male baby had congenital 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 involving the rectosigmoid colon. He was surgically treated for Hirschsprung's disease after transanal endorectal pull-through at the age of 7 months. After settlement of the ventriculo-peritoneal shunt, the transanal approach was of significant value for keeping the intraperitoneal catheter clean. The association of developmental disorders of melanocytes and enteric ganglia, both of which originated from the neural crest, suggested the presence of mutual pathogenetic factors in the patient.

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        • Leaney B.J.
        • Rowe P.W.
        • Klug G.L.
        Neurocutaneous melanosis with hydrocephalus and syringomyelia.
        J Neurosurg. 1985; 62: 148-152
        • Barbieri F.
        • Santangelo R.
        • Indaco A.
        • et al.
        Neurocutaneous melanosis, neurofibromatosis and spinal meningioma: an unusual association.
        Acta Neurol. 1990; 12: 112-121
        • Swenson O.
        • Bill A.H.
        Resection of rectum and rectosigmoid with preservation of the sphincter for benign spastic lesion producing megacolon.
        Surgery. 1948; 24: 212-220
        • Peters van der Sanden M.J.H.
        • Kirby M.L.
        • Gittenberger G.A.
        • et al.
        Ablation of various regions within the avian vagal crest has differential effects on ganglion formation in the fore mid and hindgut.
        Dev Dyn. 1993; 196: 183-194
        • Jacob-Cohen R.J.
        • Payette R.F.
        • Gershon M.D.
        • et al.
        Inability of neural crest cells to colonize the presumptive aganglionic bowel of ls/ls mutant mice: Requirement for a permissive microenvironment.
        J Comp Neurol. 1987; 255: 425-438
        • Chan J.R.
        • Cosgaya J.M.
        • Wu Y.J.
        • et al.
        Neurotrophins are key mediators of the myelination program in the peripheral nervous system.
        Proc Natl Acad Sci U S A. 2001; 98: 14661-14668
        • De la Torre-Mondragon L.
        • Ortega-Salgado J.A.
        Transanal endorectal pull-through for Hirschsprung's disease.
        J Pediatr Surg. 1998; 33: 1283-1286
        • Schuchardt A.
        • D'Agati V.
        • Larsson-Blomberg L.
        • et al.
        Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret.
        Nature. 1994; 367: 380-383
        • Bolande R.P.
        The neurocristopathy. A unifying concept of disease arising in neural crest maldevelopment.
        Hum Pathol. 1974; 5: 409-429
        • Puffenberger E.G.
        • Hosoda K.
        • Washington S.S.
        • et al.
        A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.
        Cell. 1994; 79: 1257-1266
        • Pingault V.
        • Bondurand N.
        • Kuhlbrodt K.
        • et al.
        SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
        Nat Genet. 1998; 18: 171-173
        • Peters R.
        • Jansen G.
        • Engelbrecht V.
        Neurocutaneous melanosis with hydrocephalus, intraspinal arachnoid collections and syringomyelia: case report and literature review.
        Pediatr Radiol. 2000; 30: 284-288
        • Egan C.L.
        • Oliveria S.A.
        • Elenitsas R.
        • et al.
        Cutaneous melanoma risk and phenotypic changes in large congenital nevi: a follow-up study of 46 patients.
        J Am Acad Dermatol. 1998; 39: 923-932
        • Kaplan A.M.
        • Itabashi H.H.
        • Hanelin L.G.
        • et al.
        Neurocutaneous melanosis with malignant leptomeningeal melanoma.
        Arch Neurol. 1975; 32: 669-671
        • Doray B.
        • Salomon R.
        • Amiel J.
        • et al.
        Mutations of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung's disease.
        Hum Mol Genet. 1998; 7: 1449-1452
        • Lang D.
        • Chen F.
        • Milewski R.
        • et al.
        Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret.
        J Clin Invest. 2000; 106: 963-971
        • Southard-Smith E.M.
        • Kos L.
        • Pavan W.J.
        Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model.
        Nat Genet. 1998; 18: 60-64
        • Pavan W.J.
        • Tilghman S.M.
        Piebald lethal (sl) acts early to disrupt the development of neural crest–derived melanocytes.
        Proc Natl Acad Sci U S A. 1994; 91: 7159-7163
        • Faillace W.J.
        • Okawara S.H.
        • McDonald J.V.
        Neurocutaneous melanosis with extensive intracerebral and spinal cord involvement.
        J Neurosurg. 1984; 61: 782-785