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Journal articles on the topic 'Neurocristopathy'

Author: Grafiati

Published: 4 June 2021

Last updated: 20 February 2023

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1

Steven Poceta, J., Thomas P. Strandjord, Richard J. Badura, and Jerrold M. Milstein. "Ondine curse and neurocristopathy." Pediatric Neurology 3, no. 6 (November 1987): 370–72. http://dx.doi.org/10.1016/0887-8994(87)90011-7.

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2

Oelberg, David G., Rodrigo Dominguez, and Adelaide A. Hebert. "Neurocristopathy Syndrome: Review of Four Cases." Pediatric Dermatology 7, no. 2 (June 1990): 87–92. http://dx.doi.org/10.1111/j.1525-1470.1990.tb00660.x.

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3

Shoji, Shuneki, and Isao Lee Shoji. "Neurocristopathy following maternal gamma-rays exposure." Reproductive Toxicology 24, no. 1 (July 2007): 79. http://dx.doi.org/10.1016/j.reprotox.2007.04.064.

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4

Steinsapir, Kenneth D., Erica Lehman, J. Terry Ernest, and Ramesh C. Tripathi. "Systemic Neurocristopathy Associated with Rieger's Syndrome." American Journal of Ophthalmology 110, no. 4 (October 1990): 437–38. http://dx.doi.org/10.1016/s0002-9394(14)77035-7.

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5

Chance, Aaron, Jesse J. Liu, Jeffrey S. Raskin, Viktor Zherebitskiy, Sakir H. Gultekin, and Ahmed M. Raslan. "Thoracic primary central nervous system melanoma and lumbar schwannoma of complex neurocristopathy: case report." Journal of Neurosurgery: Spine 23, no. 6 (December 2015): 780–83. http://dx.doi.org/10.3171/2015.3.spine141265.

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Complex neurocristopathy, a disorder resulting from the aberrant proliferation of tissues derived from neural crest cells, has been previously reported in 2 patients, both involving ophthalmic melanoma and other tumors. One patient had a periorbital neurofibroma, sphenoid wing meningioma, and choroid juxtapapillary meningioma. The other patient had a choroidal melanoma and an optic nerve sheath meningioma. The authors describe clinical and pathological findings in a patient who underwent resection of 2 distinct lesions: primary CNS melanoma at T-12 and an L-5 schwannoma. Clinical and histopathological findings of the case are reviewed. To the authors’ knowledge, this is the first patient to present with complex neurocristopathy involving both a spinal melanoma and schwannoma.

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6

Qualman, Stephen J., William R. Green, Charlotte Brovall, and Brigid G. Leventhal. "Neurofibromatosis and Associated Neuroectodermal Tumors: A Congenital Neurocristopathy." Pediatric Pathology 5, no. 1 (January 1986): 65–78. http://dx.doi.org/10.3109/15513818609068849.

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7

Bolande, Robert. "Neurocristopathy: Its Growth and Development in 20 Years." Fetal and Pediatric Pathology 17, no. 1 (January 1, 1997): 1–25. http://dx.doi.org/10.3109/15513819709168343.

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8

Nemecek, Eneida R., Robert W. Sawin, and Julie Park. "Treatment of Neuroblastoma in Patients With Neurocristopathy Syndromes." Journal of Pediatric Hematology/Oncology 25, no. 2 (February 2003): 159–62. http://dx.doi.org/10.1097/00043426-200302000-00015.

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9

Bolande, Robert P. "NEUROCRISTOPATHY: Its Growth and Development in 20 Years." Pediatric Pathology & Laboratory Medicine 17, no. 1 (January 1, 1997): 1–26. http://dx.doi.org/10.1080/107710497174994.

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10

Bolande, Robert. "NEUROCRISTOPATHY: Its Growth and Development in 20 Years." Fetal and Pediatric Pathology 17, no. 1 (January 1, 1997): 1–26. http://dx.doi.org/10.1080/713601245.

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11

Cibis, Gerhard W., Ramesh C. Tripathi, Brenda J. Tripathi, and F. Glen Seidel. "Familial Total Ophthalmoplegia With Iris Transillumination (a Neurocristopathy)." American Journal of Ophthalmology 113, no. 4 (April 1992): 443–46. http://dx.doi.org/10.1016/s0002-9394(14)76170-7.

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12

Bergstrom, Chris S., Richard A. Saunders, Amy K. Hutchinson, and Scott R. Lambert. "Iris Hypoplasia and Aorticopulmonary Septal Defect: A Neurocristopathy." Journal of American Association for Pediatric Ophthalmology and Strabismus 9, no. 3 (June 2005): 264–67. http://dx.doi.org/10.1016/j.jaapos.2004.12.012.

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13

Bolande, Robert P. "Neurocristopathy: Its Growth and Development in 20 Years." Pediatric Pathology & Laboratory Medicine 17, no. 1 (January 1997): 1–25. http://dx.doi.org/10.1080/15513819709168343.

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14

Ahmad, Hira, Alejandra Vilanova-Sánchez, Isabel Amengual, Laura Guerra-Pastrian, Marta Garrido-Pontnou, Cristina Montalvo, Alba Bueno, Jacob Langer, Richard J. Wood, and Marc A. Levitt. "Skip Segment Hirschsprung Disease Managed by Pull-Through of the Right Colon." European Journal of Pediatric Surgery Reports 09, no. 01 (January 2021): e28-e32. http://dx.doi.org/10.1055/s-0041-1726347.

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AbstractHirschsprung disease is the most common neurocristopathy in children, resulting in the congenital loss of enteric ganglia. Rare reports of skip lesions have previously been reported in the literature. We present a case of skip lesions known prior to surgery and managed by pull-through of the right colon that allowed the preservation of the colon.

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15

Nagashimada, Mayumi, Hiroshi Ohta, Chong Li, Kazuki Nakao, Toshihiro Uesaka, Jean-François Brunet, Jeanne Amiel, Delphine Trochet, Teruhiko Wakayama, and Hideki Enomoto. "Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression." Journal of Clinical Investigation 122, no. 9 (September 4, 2012): 3145–58. http://dx.doi.org/10.1172/jci63401.

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16

Mooy, Cornelia M., Brian J. Clark, and William R. Lee. "Posterior axial corneal malformation and uveoretinal angiodysgenesis — a neurocristopathy?" Graefe’s Archive for Clinical and Experimental Ophthalmology 228, no. 1 (January 1990): 9–18. http://dx.doi.org/10.1007/bf02764283.

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17

Kincaid, P. K., R. B. Dietrich, and M. J. Pais. "Pediatric case of the day. Neurocristopathy (Ondine-Hirschsprung syndrome)." RadioGraphics 14, no. 5 (September 1994): 1139–43. http://dx.doi.org/10.1148/radiographics.14.5.7991820.

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18

Roshkow, J. E., J. O. Haller, W. E. Berdon, and S. M. Sane. "Hirschsprung's disease, Ondine's curse, and neuroblastoma-manifestations of neurocristopathy." Pediatric Radiology 19, no. 1 (November 1988): 45–49. http://dx.doi.org/10.1007/bf02388410.

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19

Puri, Prem. "Hirschsprung's disease, Ondine's curse, and neuroblastoma—Manifestations of neurocristopathy." Journal of Pediatric Surgery 24, no. 7 (July 1989): 717. http://dx.doi.org/10.1016/s0022-3468(89)80753-5.

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20

Gaisie, G. "Hirschsprungs disease, Ondine's Curse, and neuroblastoma — manifestations of neurocristopathy." Pediatric Radiology 20, no. 1-2 (November 1989): 136. http://dx.doi.org/10.1007/bf02010663.

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21

de Vos, Ivo J. H. M., Alexander P. A. Stegmann, Carroll A. B. Webers, and Constance T. R. M. Stumpel. "The 6p25 deletion syndrome: An update on a rare neurocristopathy." Ophthalmic Genetics 38, no. 2 (April 12, 2016): 101–7. http://dx.doi.org/10.3109/13816810.2016.1164191.

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22

Jensen, N. A., M. L. Rodriguez, J. S. Garvey, C. A. Miller, and L. Hood. "Transgenic mouse model for neurocristopathy: Schwannomas and facial bone tumors." Proceedings of the National Academy of Sciences 90, no. 8 (April 15, 1993): 3192–96. http://dx.doi.org/10.1073/pnas.90.8.3192.

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23

Jian, Xin-Chun, and Xin-Qun Chen. "Neurocristopathy that manifests right facial cleft and right maxillary duplication." Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology 79, no. 5 (May 1995): 546–50. http://dx.doi.org/10.1016/s1079-2104(05)80092-7.

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24

Sattur, Mithun, Andrew R. Pines, and Bernard R. Bendok. "Thinking from the Heart: Neurocristopathy, Aortic Abnormalities, and Intracranial Aneurysms." World Neurosurgery 85 (January 2016): 25–27. http://dx.doi.org/10.1016/j.wneu.2015.08.003.

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25

Williams, P., E. Wegner, and D. S. Ziegler. "Outcomes in Multifocal Neuroblastoma as Part of the Neurocristopathy Syndrome." PEDIATRICS 134, no. 2 (July 28, 2014): e611-e616. http://dx.doi.org/10.1542/peds.2013-3340.

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26

Komiyama, Masaki. "Segmental vulnerability and vascular neurocristopathy of the internal carotid artery." Interventional Neuroradiology 26, no. 2 (November 10, 2019): 131–34. http://dx.doi.org/10.1177/1591019919886776.

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27

Ahmad, Hira, Devin R. Halleran, Raquel Quintanilla, Alessandra C. Gasior, Richard J. Wood, and Marc A. Levitt. "A Hirschsprung Pull-through, “with a Twist”." European Journal of Pediatric Surgery Reports 08, no. 01 (January 2020): e95-e98. http://dx.doi.org/10.1055/s-0040-1717128.

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AbstractHirschsprung disease is the most common neurocristopathy in children, resulting in the congenital loss of enteric ganglia. Surgery, which involves resecting the aganglionic segment and restoring bowel continuity, usually results in a good outcome; however, some patients suffer from multiple episodes of enterocolitis and other obstructive symptoms. A contrast enema, examination under anesthesia, and rectal biopsy can identify the cause of obstruction in many cases, including a rare explanation, a twist of the pull-through, a case of which we present here.

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28

Ahmad, Hira, Devin R. Halleran, Raquel Quintanilla, Alessandra C. Gasior, Richard J. Wood, and Marc A. Levitt. "A Hirschsprung Pull-through, “with a Twist”." European Journal of Pediatric Surgery Reports 08, no. 01 (January 2020): e95-e98. http://dx.doi.org/10.1055/s-0040-1717128.

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AbstractHirschsprung disease is the most common neurocristopathy in children, resulting in the congenital loss of enteric ganglia. Surgery, which involves resecting the aganglionic segment and restoring bowel continuity, usually results in a good outcome; however, some patients suffer from multiple episodes of enterocolitis and other obstructive symptoms. A contrast enema, examination under anesthesia, and rectal biopsy can identify the cause of obstruction in many cases, including a rare explanation, a twist of the pull-through, a case of which we present here.

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29

Sjamsudin, Jusuf, David J. David, and G. D. Singh. "An Indonesian child with orofacial duplication and neurocristopathy anomalies: case report." Journal of Cranio-Maxillofacial Surgery 29, no. 4 (August 2001): 195–97. http://dx.doi.org/10.1054/jcms.2001.0221.

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30

Komiyama, M. "Cardio-cephalic neural crest syndrome: A novel hypothesis of vascular neurocristopathy." Interventional Neuroradiology 23, no. 6 (August 16, 2017): 572–76. http://dx.doi.org/10.1177/1591019917726093.

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A novel hypothesis proposes that “cardio-cephalic neural crest (NC) syndrome,” i.e. cephalic NC including cardiac NC, contributes to the concurrent occurrence of vascular diseases in the cardio- and cerebrovascular regions. NC is a transient structure present in early embryogenesis. Cephalic NC provides mesenchymal cells to the vascular media in these regions. Concurrent cardio- and cerebrovascular lesions have been reported in PHACE syndrome, ACTA2 mutation syndrome, and less frequently in the spontaneous occlusion of the circle of Willis (so-called moyamoya disease). Cardiovascular lesions in these syndromes include coarctation of the aorta, persistent truncus arteriosus, patent ductus arteriosus, and coronary artery disease, and cerebrovascular lesions include agenesis and stenosis/occlusion of the internal carotid arteries, and moyamoya phenomenon. These concurrent vascular lesions both in the cardio- and cerebrovascular regions might be related to cephalic NC. This hypothesis, although not proven, may facilitate a better understanding of the above-mentioned NC-related vascular pathologies and lead to appropriate diagnostic and therapeutic approaches for clinicians and chart future direction for researchers.

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31

Cameron, Angus C., Geoffrey M. W. McKellar, and Richard P. Widmer. "A case of neurocristopathy that manifests facial clefting and maxillary duplication." Oral Surgery, Oral Medicine, Oral Pathology 75, no. 3 (March 1993): 338–42. http://dx.doi.org/10.1016/0030-4220(93)90147-v.

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32

Matera, Ivana, Dawn E. Watkins-Chow, Stacie K. Loftus, Ling Hou, Arturo Incao, Debra L. Silver, Cecelia Rivas, Eugene C. Elliott, Laura L. Baxter, and William J. Pavan. "A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy." Human Molecular Genetics 17, no. 14 (April 7, 2008): 2118–31. http://dx.doi.org/10.1093/hmg/ddn110.

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33

Aoyagi-Inoue, Naoko, Yukiko U. Inoue, Yoshiki Matsuda, Masumi Inagaki, Takayoshi Inoue, Yu-ichi Goto, Shinichi Kohsaka, Ken Inoue, and Chihiro Akazawa. "Modeling for a complex neurocristopathy, PCWH, using mutant Sox10 BAC transgenic mice." Neuroscience Research 65 (January 2009): S53. http://dx.doi.org/10.1016/j.neures.2009.09.120.

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34

Inoue, K., N. Aoyagi‐Inoue, Y. Itoh, Y. Inoue, Y. Matsuda, and M. Inagaki. "[P2.72]: Modeling a complex neurocristopathy, PCWH, in a Sox10 BAC transgenic mouse." International Journal of Developmental Neuroscience 28, no. 8 (November 2010): 712. http://dx.doi.org/10.1016/j.ijdevneu.2010.07.202.

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35

Jones, Natalie C., Megan L. Lynn, Karin Gaudenz, Daisuke Sakai, Kazushi Aoto, Jean-Phillipe Rey, Earl F. Glynn, et al. "Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function." Nature Medicine 14, no. 2 (February 2008): 125–33. http://dx.doi.org/10.1038/nm1725.

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36

Stockman, J. A. "Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function." Yearbook of Pediatrics 2009 (January 2009): 113–14. http://dx.doi.org/10.1016/s0084-3954(08)79056-0.

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37

Gupta, Rahul, DineshKumar Barolia, and Manisha Goyal. "Congenital hydrocephalus, corpus callosum agenesis, and prosencephalic cyst with supernumerary nostril: A neurocristopathy." Asian Journal of Neurosurgery 13, no. 4 (2018): 1239. http://dx.doi.org/10.4103/ajns.ajns_128_17.

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38

Alvord, Ellsworth C., and Cheng-Mei Shaw. "Congenital Difficulties With Swallowing and Breathing Associated With Maternal Polyhydramnios: Neurocristopathy or Medullary Infarction?" Journal of Child Neurology 4, no. 4 (October 1989): 299–306. http://dx.doi.org/10.1177/088307388900400410.

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39

Jung, Sung Eun, Dae Yeon Kim, Ki Hong Kim, Seong Cheol Lee, Kwi Won Park, and Woo Ki Kim. "Neurocristopathy Combined with Congenital Central Hypoventilation Syndrome, Hirschsprung's Disease and Ganglioneuroblastoma in a Neonate." Journal of the Korean Association of Pediatric Surgeons 5, no. 2 (1999): 146. http://dx.doi.org/10.13029/jkaps.1999.5.2.146.

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40

Morini, Francesco, Denis Andrew Cozzi, Michele Ilari, Alessandra Casati, and Francesco Cozzi. "Pattern of Cardiovascular Anomalies Associated with Esophageal Atresia: Support for a Caudal Pharyngeal Arch Neurocristopathy." Pediatric Research 50, no. 5 (November 2001): 565–68. http://dx.doi.org/10.1203/00006450-200111000-00005.

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41

Stovroff, Mark, Francine Dykes, and W. Gerald Teague. "The complete spectrum of neurocristopathy in an infant with congenital hypoventilation, Hirschsprung's disease, and neuroblastoma." Journal of Pediatric Surgery 30, no. 8 (August 1995): 1218–21. http://dx.doi.org/10.1016/0022-3468(95)90027-6.

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42

Komiyama, Masaki. "Moyamoya disease is a vascular form of neurocristopathy: disease of the embryologic cephalic neural crest." Child's Nervous System 33, no. 4 (March 15, 2017): 567–68. http://dx.doi.org/10.1007/s00381-017-3369-2.

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43

Fisher, Michelle, Chelsey Smeiles, Amy J. Jnah, Michelle Elias Ruiz, Tina Difiore, and Kerry Sewell. "Congenital Central Hypoventilation Syndrome: A Case-Based Learning Opportunity for Neonatal Clinicians." Neonatal Network 38, no. 4 (July 1, 2019): 217–25. http://dx.doi.org/10.1891/0730-0832.38.4.217.

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Congenital central hypoventilation syndrome (CCHS) is a rare and sporadic neurocristopathy characterized by alveolar hypoventilation and autonomic nervous system dysfunction. CCHS manifests quickly after birth, initially as respiratory distress. Mortality risk is estimated at 38 percent, with a median age of death of three months of age. A timely and accurate diagnosis is critical. Genetic testing for PHOX2B gene mutations is necessary to confirm the diagnosis; however, laboratory turnaround time often imposes an additional 7–14-day waiting period on an often anxious family. Neonatal clinicians should recognize that families require disease-specific education, emotional support, and time to rehearse daily caregiving in preparation for discharge. Therefore, this article presents the key clinical, pathophysiologic, and diagnostic factors, as well as a discussion of discharge needs. A case report of an infant, born to parents with no known history of CCHS, is included as a case-based learning opportunity for readers.

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44

Wagner, Richard, Martin Lacher, Andreas Merkenschlager, and Moritz Markel. "Harlequin Syndrome after Thoracoscopic Repair of a Child with Tracheoesophageal Fistula (TEF)." European Journal of Pediatric Surgery Reports 07, no. 01 (January 2019): e63-e65. http://dx.doi.org/10.1055/s-0039-1697667.

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AbstractHarlequin syndrome (HS) is a rare dysautonomia of the sympathetic nervous system leading to asymmetric facial flushing and sweating. In the literature, only a few cases of HS after thoracoscopic tracheoesophageal fistula (TEF) repair are reported. We report on a newborn with TEF who developed HS after thoracoscopic repair. On the first day of life, the girl (3,480 g, gestation age: 41 week) underwent thoracoscopic repair of a type C esophageal atresia (TEF; OR time 105 minute) without complications. The postoperative course was uneventful, the patient swallowed and thrived well and did not require esophageal dilatations. At 2 years of age, missing facial flushing, transpiration, and warming on the right side of her face during agitation were noticed. As no further intervention was required, the girl and her parents adapted well to the symptoms. Our report shows that the late onset of HS after the surgical procedure is unlikely a direct causal relation to the thoracoscopic operation but rather a shared embryological pathogenesis, like a neurocristopathy.

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45

Bennaceur, Sélim, Thierry Buisson, Chloé Bertolus, and Gérard Couly. "Branchio-Oculo-Facial Syndrome with Cleft Lip and Bilateral Dermal Thymus." Cleft Palate-Craniofacial Journal 35, no. 5 (September 1998): 454–59. http://dx.doi.org/10.1597/1545-1569_1998_035_0454_bofswc_2.3.co_2.

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Objective The objective of this study was to demonstrate that the branchio-oculo-facial (BOF) syndrome is a cervicocephalic neural crest maldevelopment. Results Using an embryologic study, we linked the clinical features and the level of the neural crest deficiency. We report here two cases of BOF syndrome with a particular branchial cleft presenting as bilateral supernumerary thymus glands on the surface of the skin; one of the cases was associated with tetralogy of Fallot. One patient underwent lip reconstruction at 4 months, combined with excision of bilateral auricular pits and superior labial fistula. The other patient had a surgical correction of the tetralogy of Fallot, and at 2 months, the two stages of the lip reconstruction were performed, combined with bilateral auricular pit excision. Both patients have shown normal developmental patterns to date. Conclusion The BOF syndrome must be considered as a neurocristopathy at different levels, with a tiny mesencephalo-prosencephalic lesion and a severe rhombencephalic lesion that includes seven consecutive hindbrain segments, from rhombomere 2 to rhombomere 8.

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46

Mehta, Purnima, Pavi Agrawal, Philip Luthert, and Omar M. Durrani. "Optic Nerve Sheath Meningioma in a Patient with Choroidal Malignant Melanoma: A Case Report of a Complex Neurocristopathy." Orbit 28, no. 6 (November 24, 2009): 436–38. http://dx.doi.org/10.3109/01676830903180314.

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47

Inoue, K., T. Ohyama, Y. Sakuragi, R. Yamamoto, N. A. Inoue, L. H. Yu, Y. i. Goto, M. Wegner, and J. R. Lupski. "Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain." Human Molecular Genetics 17, no. 11 (February 7, 2008): 1705. http://dx.doi.org/10.1093/hmg/ddn056.

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48

Enomoto, Hideki. "Neurocristopathy-associated Phox2b mutations cause Sox10 dysregulation and affects self-renewal, proliferation and differentiation of autonomic neural progenitors." Neuroscience Research 68 (January 2010): e38. http://dx.doi.org/10.1016/j.neures.2010.07.412.

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49

Pilon, Nicolas. "Pigmentation-based insertional mutagenesis is a simple and potent screening approach for identifying neurocristopathy-associated genes in mice." Rare Diseases 4, no. 1 (January 2016): e1156287. http://dx.doi.org/10.1080/21675511.2016.1156287.

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50

Roth, Mark J., L. Jeffrey Medeiros, Sudesh Kapur, Leonard H. Wexler, Sharon Mims, Marc E. Horowitz, and Maria Tsokos. "Malignant schwannoma with melanocytic and neuroepithelial differentiation in an infant with congenital giant melanocytic nevus: A complex neurocristopathy." Human Pathology 24, no. 12 (December 1993): 1371–75. http://dx.doi.org/10.1016/0046-8177(93)90273-j.

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