1/25. A hirschsprung disease locus at 22q11?We report a boy with truncus arteriosus, dysmorphic features, developmental delay, passing hypotonia, short segment hirschsprung disease (HSCR), and paroxysmal hypoventilation. FISH analysis showed an interstitial deletion in chromosome band 22q11.2 coinciding with the deletions found in digeorge syndrome and velocardiofacial syndrome. mutation scanning of RET, GDNF, EDNRB, and EDN3, genes associated with hirschsprung disease, showed no aberrations. Since we know of two more patients with velocardiofacial syndrome and HSCR, we hypothesise that a gene responsible for proper development of the enteric nervous system may be included in the 22q11.2 region.- - - - - - - - - - ranking = 1keywords = hypoventilation (Clic here for more details about this article) |
2/25. Neonatal hirschsprung disease, dysautonomia, and central hypoventilation.BACKGROUND: A reported association between congenital central hypoventilation, long-segment intestinal aganglionosis (hirschsprung disease), and autonomic dysfunction, with a high recurrence risk and mortality rate, is associated with abnormal neural crest development (neurocristopathy). CASE: A fetus had increasing polyhydramnios, no stomach bubble, and repeatedly nonreactive fetal heart rate tracings despite normal activity. There were no other fetal anomalies on ultrasound. Postnatally all of the above clinical features were diagnosed, prompting diagnosis of neurocristopathy syndrome. She died at 2 weeks of age. CONCLUSION: Antenatal polyhydramnios, nonreactive nonstress tests, and absent stomach bubble in an active fetus indicated neurocristopathy.- - - - - - - - - - ranking = 5keywords = hypoventilation (Clic here for more details about this article) |
3/25. tonic pupil associated with congenital neuroblastoma, hirschsprung disease, and central hypoventilation syndrome.PURPOSE: To report the association of tonic pupil, congenital neuroblastoma, hirschsprung disease, and central hypoventilation syndrome. methods: case reports. RESULTS: Two infants with central hypoventilation syndrome and hirschsprung disease were evaluated for dilated, nonreactive pupils present since birth. In both cases, pharmacologic testing with dilute pilocarpine confirmed denervation supersensitivity consistent with tonic pupil. The diagnosis of congenital neuroblastoma was subsequently established in both infants. CONCLUSIONS: The close association of these conditions in these two young children supports the concept of a common neural crest abnormality being present. A careful systemic evaluation to rule out congenital neuroblastoma should be performed in any young child who presents with tonic pupil in the setting of central hypoventilation syndrome and hirschsprung disease.- - - - - - - - - - ranking = 98.41194512316keywords = hypoventilation syndrome, hypoventilation (Clic here for more details about this article) |
4/25. Clinical letter: epidural analgesia in a newborn with Hirschsprung's disease, associated with congenital central hypoventilation syndrome.A case is presented of a neonate with Hirschsprung's disease, associated with congenital central hypoventilation syndrome. After an ileostomy (at 2 days) and a stoma revision (at 10 days), postoperative pain management was established by continuous intravenous infusion of morphine, which caused severe postoperative respiratory depression. At 6 weeks a re-exploration and stoma revision was performed using postoperative epidural analgesia with bupivacaine. This caused no respiratory depression. A colectomy under epidural analgesia at 8 months was also uneventful. Respiratory difficulties in children with congenital central hypoventilation syndrome associated with Hirschsprung's disease are discussed in relation to the technique of choice for postoperative pain management.- - - - - - - - - - ranking = 84.353095819852keywords = hypoventilation syndrome, hypoventilation (Clic here for more details about this article) |
5/25. Congenital central hypoventilation syndrome associated with Hirschsprung's disease: mutation analysis of the RET and endothelin-signaling pathways.Three cases of congenital central hypoventilation syndrome (CCHS) associated with Hirschsprung's disease (HSCR) were examined with respect to their genomic dna on the coding region of the receptor tyrosine kinase (RET) and the endothelin-B receptor (EDNRB). No causative mutations for the disease were detected, but one polymorphism was observed in exon 11 of the RET proto-oncogene. In cases with CCHS, HSCR occurs with a high incidence, and this disease complex has been described as neurocristopathy due to aberrations in neural crest cell proliferation, differentiation or migration during the early fetal period. Both the RET and EDNRB may play important roles in the modulation of neurocristopathies; however, further systemic studies in a large population of patients and control subjects are necessary for elucidating the pathogenesis of this disorder.- - - - - - - - - - ranking = 70.294246516543keywords = hypoventilation syndrome, hypoventilation (Clic here for more details about this article) |
6/25. Congenital central hypoventilation syndrome associated with Hirschsprung's disease and neuroblastoma: case of multiple neurocristopathies.We report on a male infant with the rare combined occurrence of congenital central hypoventilation syndrome (CCHS or Ondine's curse), Hirschsprung's disease (HD), and neuroblastoma. Current therapeutical options leave no doubt that children with isolated forms of CCHS, HD, or neuroblastoma must be treated, but management decisions and the ethical dilemma become more difficult with the presence of multiple neurocristopathies. Our patient was dependent on mechanical ventilation and total parenteral nutrition, when a neuroblastoma was diagnosed at age 5 months. We initiated an attempt at curative chemotherapy. The tumor failed to respond to recommended chemotherapeutic regimens, and the patient died at 11 months of age. We emphasize the importance of screening CCHS patients for associated illnesses such as neuroblastoma and ganglioneuroblastoma at time of diagnosis.- - - - - - - - - - ranking = 70.294246516543keywords = hypoventilation syndrome, hypoventilation (Clic here for more details about this article) |
7/25. Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case.Recently, a few genetic abnormalities were identified in congenital central hypoventilation syndrome (CCHS or Ondine's curse). CCHS is often associated with other neurocristopathies, especially with Hirschsprung's disease (HSCR). Mutations of the genes involved in the receptor tyrosine kinase RET (REarranged during transfection) (RET)-glial cell line-derived neurotrophic factor (GDNF) and/or endothelin 3 (EDN3)-endothelin receptor-B (EDNRB) signaling pathway have been found in some of HSCR patients. In this study, we analyzed candidates for HSCR, namely the RET, GDNF, EDN3 and EDNRB genes in three isolated CCHS patients to confirm the hypothesis that some CCHS patients have a common genetic abnormality with patients having HSCR or other neurocristopathies. We found a novel R114H mutation of the RET gene in one patient. The R114H mutation is unlikely to be a polymorphism and appears to be associated with CCHS. In addition, we also examined the HOX11L2 (RNX) gene, for which knock-out mice showed CCHS-like syndrome in these isolated CCHS patients and did not detected any mutation. Further cases should be analyzed for more candidates to clarify the pathophysiology of CCHS.- - - - - - - - - - ranking = 70.294246516543keywords = hypoventilation syndrome, hypoventilation (Clic here for more details about this article) |
8/25. Hirschsprung's disease associated with Ondine's curse.This is a case report of a very rare combination of congenital aganglionosis of the intestine (Hirschsprung's disease) and congenital central hypoventilation syndrome-CCHS- (Ondine's curse). The combination is also called Haddad syndrome. In about 50% of the cases of CCHS there is associated Hirschsprung's disease. There are only about 48 cases reported worldwide. The disease has a very high mortality especially in the settings of a developing country.- - - - - - - - - - ranking = 14.058849303309keywords = hypoventilation syndrome, hypoventilation (Clic here for more details about this article) |
9/25. Treatment of neuroblastoma in patients with neurocristopathy syndromes.Neuroblastoma, a neoplasm of neural crest cell origin, occasionally presents in association with other neural crest abnormalities such as hirschsprung disease, congenital central hypoventilation, autonomic disturbances, and other tumors. These associations have been termed "neurocristopathy syndromes." In the past, chemotherapy has not been considered for patients with neurocristopathy-associated neuroblastoma because of their complicated medical problems. The authors describe two patients with neurocristopathy syndromes from our institution who underwent surgery and standard chemotherapy treatment of their intermediate-risk neuroblastoma. They represent two of only three long-term disease-free survivors of neurocristopathy-associated neuroblastoma reported in the literature.- - - - - - - - - - ranking = 1keywords = hypoventilation (Clic here for more details about this article) |
10/25. Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease.Neurocristopathies are a group of diverse disorders resulting from defective growth, differentiation, and migration of the neural crest cells. Hirschsprung's disease, namely aganglionic megacolon, is the consequence of defective migration of neural crest cells on to the colonic submucosa and is therefore considered a neurocristopathy. We report on four children in whom was diagnosed a neurocristopathy, associating Hirschsprung's disease with a wide spectrum of neurologic abnormalities. The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, microcephaly, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child. The third newborn presented with the Haddad syndrome: short-segment Hirschsprung's disease associated with the congenital central hypoventilation syndrome requiring permanent artificial ventilation. In the fourth child, absence of the corpus callosum was associated with mild dysmorphic features, borderline cognitive abilities, and attention-deficit disorder. Therefore, awareness of a possible neurocristopathy associated with neurologic abnormalities should be taken into account in any patient newly diagnosed with Hirschsprung's disease to detect the abnormalities early and promptly manage them. A thorough neurologic examination and a developmental assessment, including magnetic resonance imaging of the brain and electroencephalography, should be performed for any child presenting with an aganglionic megacolon, especially those presenting with seizures, developmental delay, or even congenital hypoventilation.- - - - - - - - - - ranking = 15.058849303309keywords = hypoventilation syndrome, hypoventilation (Clic here for more details about this article) |
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