1. Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome
- Author
-
Giabicani, P, Lemale, P, Dainese, P, Boudjemaa, B., Coulomb, P, Tounian, P., Dubern, B., Giabicani, Eloïse, Lemale, J., Dainese, L., Boudjemaa, S., Coulomb, A., Department of Ecology and Environment, Université de Tlemcen, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Méthodes d'Analyses pour le Traitement d'Images et la Stéréorestitution (MATIS), Laboratoire des Sciences et Technologies de l'Information Géographique (LaSTIG), École nationale des sciences géographiques (ENSG), Institut National de l'Information Géographique et Forestière [IGN] (IGN)-Institut National de l'Information Géographique et Forestière [IGN] (IGN)-École nationale des sciences géographiques (ENSG), and Institut National de l'Information Géographique et Forestière [IGN] (IGN)-Institut National de l'Information Géographique et Forestière [IGN] (IGN)
- Subjects
0301 basic medicine ,Intestinal pseudo-obstruction ,Male ,Pathology ,medicine.medical_specialty ,Abdominal pain ,Facial bone ,030105 genetics & heredity ,03 medical and health sciences ,MESH: Child ,Medicine ,Humans ,Child ,MESH: Intestinal Pseudo-Obstruction ,[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics ,MESH: Humans ,business.industry ,MESH: Chronic Disease ,Intestinal Pseudo-Obstruction ,[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism ,medicine.disease ,Hypoplasia ,MESH: Male ,3. Good health ,Palpebral fissure ,Atresia ,Pediatrics, Perinatology and Child Health ,Chronic Disease ,MESH: Mandibulofacial Dysostosis ,medicine.symptom ,business ,Haploinsufficiency ,Treacher Collins syndrome ,Mandibulofacial Dysostosis - Abstract
Summary Background Treacher Collins syndrome (TCS) mainly presents with severe craniofacial developmental abnormalities characterized by a combination of bilateral downward-slanting palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. It is due to mutations in Treacher Collins syndrome 1 (TCOF1) (5q32–q33.1) and Polymerase RNA 1 polypeptides D and C (POLR1D [13q12.2], and POLR1 C [6p21.1]) genes, which are responsible for increased neuroepithelial apoptosis during embryogenesis resulting in the lack of neural crest cells involved in facial bone and cartilage formation. Altered function of the upper digestive tract has been reported, whereas severe dysmotility disorders have never been reported. We describe here the first case of TCS associated with histologically proven chronic intestinal pseudo-obstruction (CIPO) in humans. Case presentatios A 12-year-old boy with TCS due to TCOF1 gene deletion experienced nutritional difficulties and digestive intolerance from birth. CIPO was suspected during childhood because of severe intestinal dysmotility leading to enteral-jejunal nutrition intolerance and dependence on total parenteral nutrition. Diagnosis of CIPO with nervous abnormalities was histologically confirmed on a surgical rectal biopsy that showed enlarged ganglionic myenteric plexus. At the age of 9 years, an isolated colonic stenosis without dilatation responsible for severe abdominal pain and altered quality of life led to digestive derivation contributing to rapid disappearance of chronic abdominal pain. At the age of 12 years, the patient was still dependent on total home parenteral nutrition 7 days a week to maintain regular growth velocity. Conclusion Recently, mice studies have pointed out the role played by TCOF1 in ganglionic cell migration in the foregut, suggesting that the synergistic haploinsufficiency of Tcof1 and Pax3, a transcription factor regulating the RET gene involved in disorders of neural crest cell development, probably results in colonic aganglionosis and may explain the association described here between TCS and CIPO. This case may correspond to this possible mechanism in humans. These findings and our clinical report suggest that CIPO may be assessed as unusual digestive manifestations in TCS with TCOF1 deletion.
- Published
- 2017