Hirschsprung's disease, Ondine's curse, and neuroblastoma-manifestations of neurocristopathy

Roshkow, Julia E.; Haller, Jack O.; Berdon, W. E.; Sane, Shashikant M.

doi:10.1007/bf02388410

Cited by 72 publications

(20 citation statements)

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“…Based on previous experiences and literature review, we selected, as good candidates for having a predisposition, children with perinatal diagnosis (before birth and up to 1 month of age), 24 multifocal disease, 25 second malignancy, 26 and familial recurrence of neuroblastic tumours. Our work aims at giving a better insight for genetic counselling and further document the incidence and the penetrance of ALK mutations in patients with neuroblastic tumours.…”

Section: Introductionmentioning

confidence: 99%

ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome

et al. 2011

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Neuroblastic tumours may occur in a predisposition context. Two main genes are involved: PHOX2B, observed in familial cases and frequently associated with other neurocristopathies (Ondine's and Hirschsprung's disease); and ALK, mostly in familial tumours. We have assessed the frequency of mutations of these two genes in patients with a presumable higher risk of predisposition. We sequenced both genes in 26 perinatal cases (prebirth and o1 month of age, among which 10 were multifocal), 16 multifocal postnatal (41 month) cases, 3 pairs of affected relatives and 8 patients with multiple malignancies. The whole coding sequences of the two genes were analysed in tumour and/or constitutional DNAs. We found three ALK germline mutations, all in a context of multifocal tumours. Two mutations (T1151R and R1192P) were inherited and shared by several unaffected patients, thus illustrating an incomplete penetrance. Younger age at tumour onset did not seem to offer a relevant selection criterion for ALK analyses. Conversely, multifocal tumours might be the most to benefit from the genetic screening. Finally, no PHOX2B germline mutation was found in this series. In conclusion, ALK deleterious mutations are rare events in patients with a high probability of predisposition. Other predisposing genes remain to be discovered.

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Section: Introductionmentioning

confidence: 99%

ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome

et al. 2011

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“…CCHS may be associated with other conditions such as Hirschsprung's disease, neuroblastoma, and ganglioneuromas (4,(8)(9)(10)(11)(12)(13)(14). A primary defect of brain stem serotonergic nerve cell or a neural crest migrational abnormality has been suggested as a possible explanation for this linkage (9, 1 1, 13, 15).…”

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confidence: 99%

Heart Rate Variability in Congenital Central Hypoventilation Syndrome

Woo²,

et al. 1992

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ABSTRACT. Heart rate variability was assessed in 12 patients with congenital central hypoventilation syndrome (CCHS) and in age-and sex-matched controls using SD of time intervals between R waves (R-R intervals), R-R interval histograms, spectral analysis, and PoincarC plots of sequential R-R intervals over a 24-h period using ambulatory monitoring. Mean heart rates in patients with CCHS were 103.3 f 17.7 SD and in controls were 98.8 f 21.6 SD ( p > 0.5, NS). SD analysis of R-R intervals showed similar results in both groups (CCHS 102.2 f 36.0 ms versus controls 126.1 f 43.3 ms; p > 0.1, NS). Spectral analysis revealed that, for similar epochs sampled during quiet sleep and wakefulness, the ratios of low-frequency band to high-frequency band spectral power were increased for 11 of 12 patients with CCHS during sleep, whereas a decrease in these ratios was consistently observed in all controls during comparable sleep states (xZ = 20.31; p < 0.000007). During wakefulness, the ratios of low-frequency band to high-frequency band spectral power were similar in both patients with CCHS and controls. Poincare plots displayed significantly reduced beat-to-beat changes at slower heart rates in the CCHS patients (xZ = 24.0; p < 0.000001). The scatter of points in CCHS Poincare plots was easily distinguished from controls. All CCHS patients showed disturbed variability with one or more measures. The changes in moment-to-moment heart rate variability suggest that, in addition to a loss of ventilatory control, CCHS patients exhibit a dysfunction in autonomic nervous system control of the heart. (Pediafr Res 31: 291-296, 1992) Abbreviations CCHS, congenital central hypoventilation syndrome HRV, heart rate variability R-R, time interval between R waves LO-HI, ratio of low-frequency band to high-frequency band spectral power

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“…Os pacientes evoluem para óbito, na maioria das vezes, nos primeiros meses de vida 4,5,6,[8][9][10][11] . Nosso paciente manteve-se dependente de ventilação mecânica mesmo após traqueostomia, tendo evoluído para óbito, precocemente, decorrente de complicações infecciosas e respiratórias.…”

Section: Discussionunclassified

Neurocristopatia no diagnóstico diferencial das apnéias do recém nascido: relato de caso

Nunes

Fiori

Holzhey

2001

Arq. Neuro-Psiquiatr.

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RESUMO -Objetivo: incluir a neurocristopatia na investigação etiológica das apnéias refratárias do recém nascido e discutir o valor diagnóstico da polissonografia. Método: relato de caso e discussão crítica da literatura. Resultados: relatamos o caso de um recém-nascido que apresentou disfunção ventilatória nas primeiras horas de vida associada a distensão abdominal, necessitando de ventilação mecânica contínua com piora do quadro respiratório durante o sono. Após o diagnóstico polissonográfico de hipoventilação foi investigado com exames de neuroimagem e biópsia de cólon, positiva para doença de Hirschprung. Conclusão: a neurocristopatia é uma síndrome neonatal que por vezes pode ter o seu reconhecimento dificultado pelo amplo espectro clínico associado. A polissonografia foi fundamental nesta investigação confirmando a hipoventilação. Este diagnóstico etiológico deve ser considerado na investigação de recém-nascidos com apnéias persistentes durante o sono.PALAVRAS-CHAVE: hipoventilação central congênita, doença de Hirschsprung, polissonografia, recém nascido, apnéias. Neurochristopathy in the differential diagnosis of newborn's apnea: case reportABSTRACT -Objective: to include neurocristopathy on the etiological workup of neonatal apneas and discuss the importance of polysomnography in this diagnosis. Method: case report and critical review of the literature. Results: we report on a newborn that presented respiratory failure in the first hours of life associated to abdominal distention. Continuous ventilatory support was necessary, and the respiratory distress increased during sleep. After polysomnographic confirmation of hypoventilation the newborn was submitted to neuroradiolgic tests and colon byopsy, positive to Hirschsprung's disease. Conclusion: Neurocristopathy syndrome can have many different clinical expression, and sometimes the syndrome can be misdiagnosed. Polysomnography confirms central hypoventilation. This diagnosis should be considered in the newborn's persistent apnea workup. As cristas neurais são estruturas da membrana ectodérmica, que se originam na porção dorsal mé-dia do tubo neural concomitante ou logo após seu fechamento. Migram através de diversas rotas embrionárias e diferenciam-se em estruturas do sistema nervoso central periférico (raízes dorsais) e autonômico (gânglio simpático) 1 . Como são responsá-veis pela formação de diversas estruturas embrioná-rias, as alterações no seu desenvolvimento estão relacionadas a amplo espectro de malformações com manifestações clínica distintas 2 . O termo neurocristopatia foi proposto em 1980 para englobar as alterações clínicas relacionadas aos distúrbios no crescimento, migração ou diferenciação das cristas neurais, figurando entre os mais comuns a associação entre hipoventilação central congênita (HCC), doença de Hirschsprung e neuroblastoma congênito 3 . Posteriormente foram associados outros achados tais como alterações oftalmológicas, da audição e deglutição além de disautonomia [4][5][6] . Devido ao amplo espectro de manifestações clínica...

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Hirschsprung's disease, Ondine's curse, and neuroblastoma-manifestations of neurocristopathy

Cited by 72 publications

References 16 publications

ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome

ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome

Heart Rate Variability in Congenital Central Hypoventilation Syndrome

Neurocristopatia no diagnóstico diferencial das apnéias do recém nascido: relato de caso

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