Total: 10 |
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PMID (PMCID) | ||
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26011159 |
MALE | Adult |
Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome. | ||
Armstrong AE, Weese-Mayer DE, Mian A, Maris JM, Batra V, Gosiengfiao Y, Reichek J, Madonna MB, Bush JW, Shore RM, Walterhouse DO. Pediatr Blood Cancer. 2015;62(11):2007-10. |
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Neuroblastoma in patients with congenital central hypoventilation syndrome (CCHS) as part of a neurocristopathy syndrome is a rare finding and has only been associated with paired-like homeobox 2b (PHOX2B) non-polyalanine-repeat-expansion mutations. | ||
26011159 |
MALE | Adult |
Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome. | ||
Armstrong AE, Weese-Mayer DE, Mian A, Maris JM, Batra V, Gosiengfiao Y, Reichek J, Madonna MB, Bush JW, Shore RM, Walterhouse DO. Pediatr Blood Cancer. 2015;62(11):2007-10. |
||
Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome. | ||
25070313 |
MALE | Infant |
Outcomes in multifocal neuroblastoma as part of the neurocristopathy syndrome. | ||
Williams P, Wegner E, Ziegler DS. Pediatrics. 2014;134(2):e611-6. |
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The result is abnormal neural crest cell development resulting in congenital central hypoventilation syndrome, Hirschsprung disease, and neuroblastoma (NB), which is often multifocal and disseminated in its presentation. | ||
12571470 |
MALE | Infant, Newborn |
Treatment of neuroblastoma in patients with neurocristopathy syndromes. | ||
Nemecek ER, Sawin RW, Park J. J Pediatr Hematol Oncol. 2003;25(2):159-62. |
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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. | ||
11747263 |
MALE | Infant |
Congenital central hypoventilation syndrome associated with Hirschsprung's disease and neuroblastoma: case of multiple neurocristopathies. | ||
Rohrer T, Trachsel D, Engelcke G, Hammer J. Pediatr Pulmonol. 2002;33(1):71-6. |
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Congenital central hypoventilation syndrome associated with Hirschsprung's disease and neuroblastoma: case of multiple neurocristopathies. | ||
11004304 |
FEMALE | Infant, Newborn |
Tonic pupil associated with congenital neuroblastoma, Hirschsprung disease, and central hypoventilation syndrome. | ||
Lambert SR, Yang LL, Stone C. Am J Ophthalmol. 2000;130(2):238-40. |
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To report the association of tonic pupil, congenital neuroblastoma, Hirschsprung disease, and central hypoventilation syndrome. | ||
11004304 |
FEMALE | Infant, Newborn |
Tonic pupil associated with congenital neuroblastoma, Hirschsprung disease, and central hypoventilation syndrome. | ||
Lambert SR, Yang LL, Stone C. Am J Ophthalmol. 2000;130(2):238-40. |
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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. | ||
7472988 |
FEMALE | Infant, Newborn |
The complete spectrum of neurocristopathy in an infant with congenital hypoventilation, Hirschsprung's disease, and neuroblastoma. | ||
Stovroff M, Dykes F, Teague WG. J Pediatr Surg. 1995;30(8):1218-21. |
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Their combined occurrence in a newborn infant presenting with total colonic aganglionosis, central hypoventilation, and multifocal neuroblastoma had not been reported previously. | ||
7472988 |
FEMALE | Infant, Newborn |
The complete spectrum of neurocristopathy in an infant with congenital hypoventilation, Hirschsprung's disease, and neuroblastoma. | ||
Stovroff M, Dykes F, Teague WG. J Pediatr Surg. 1995;30(8):1218-21. |
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Neuroblastoma, Hirschsprung's disease, and central hypoventilation (Ondine's curse) are considered aberrations of neural crest cell growth, migration, or differentiation, and as such are considered to be under the general heading of neurocristopathy. | ||
7408368 |
MALE | Infant, Newborn |
Ondine's curse and neurocristopathy. | ||
Bower RJ, Adkins JC. Clin Pediatr (Phila). 1980;19(10):665-8. |
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A newborn with congenital neuroblastomas, Ondine's curse (central hypoventilation) and Hirschsprung's disease is presented. |