1 - Unidade de Cuidados Intensivos Pediátricos, Área de Pediatria Médica, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central.
2 - Departamento de Cirurgia, Instituto Português de Oncologia Dr. Francisco Gentil – Lisboa.
3 - Serviço de Pediatria, Instituto Português de Oncologia Dr. Francisco Gentil – Lisboa.
- Publicação no Science Set Journal of Medical Clinical Case Studies, setembro de 2023;
Introduction: The term neurocristopathy was first suggested in 1974 by Bolande l, for a group of diseases secondary to a disturbance of growth, migration or cytodifferentiation of cells derived from the neural crest. He considered two basic forms of presentation: the simple (ex. Hirschsprung disease; neuroblastoma; ganglioneuroblastoma; pheochromocytoma) and the complex or syndromic (ex. von Recklinghausen disease; multiple endocrine adenomatosis and associations of the simple forms). In 1978 Haddat et al described, for the first time, the association between the Congenital Central Hypoventilation Syndrome (CCHS) and Hirschsprung disease (HD), confirmed through later similar descriptions In 1994 El-Halaby and Coran presented 3 cases of Hypoventilation and Hirschsprung disease and reviewed the literature for this association, finding a total of 26 cases. Three of those patients had coexisting malignant tumors (neuroblastoma 2 - ganglioneuroblastoma). Congenital Central Hypoventilation Syndrome is a rare disorder, secondary to partial failure of the automatic control of breathing, characterized by alveolar hypoventilation, mainly during sleep. In 1992 Weese-Mayer et al (Gl, in the first systematic study of the CCHS, presented a series of 32 patients, five of them having also Hirschsprung's disease and one ganglioneuroblastoma (GN). Until now only seven cases have been described associating Central Hypoventilation and Neuroblastoma/Ganglioneuroblastoma, five of them having also Hirschsprung disease. In none of the published cases was there total recovery of the respiratory autonomy or was mentioned a late diagnosis of Hirschsprung disease. Also in none of the cases there was mention of an association with a congenital deficiency of coagulation factor VII [1, 2].
Palavras Chave: central hypoventilation syndrome, ganglioneuroblastoma, hirschsprung’s disease, neurocristopathy.