Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Rare association between cystic fibrosis, Chiari I malformation, and hydrocephalus in a baby: a case report and review of the literature. | Patel et al. Journal of Medical Case Reports 2011 5 366 http content 5 1 366 JOURNAL OF MEDICAL CASE REPORTS CASE REPORT Open Access Rare association between cystic fibrosis Chiari I malformation and hydrocephalus in a baby a case report and review of the literature Akash J Patel Viraj H Raol and Andrew Jea Abstract Introduction Cystic fibrosis an epithelial cell transport disorder caused by mutations of the cystic fibrosis transmembrane conductance regulator gene is not generally associated with malformations of the central nervous system. We review eight previously published reports detailing an infrequent association between cystic fibrosis and Chiari I malformation. Case presentation To the best of our knowledge our report describes only the ninth case of a baby presenting with a new diagnosis of cystic fibrosis and Chiari I malformation in this case in a 10-month-old full-term Caucasian baby boy from the United States of America. Neurosurgical consultation was obtained for associated developmental delay macrocephaly bulging anterior fontanel and papilledema. An MRI scan demonstrated an extensive Chiari I malformation with effacement of the fourth ventricle obliteration of the outlets of the fourth ventricle and triventricular hydrocephalus without aqueductal stenosis. Our patient was taken to the operating room for ventriculoperitoneal shunt placement. Conclusions It is possible that the cystic fibrosis transmembrane conductance regulator gene may play a previously unrecognized role in central nervous system development alternatively this central nervous system abnormality may have been acquired due to constant valsalva from recurrent coughing or wheezing or metabolic and electrolyte imbalances that occur characteristically in cystic fibrosis. Introduction Cystic fibrosis CF is a disorder in which transepithelial ion transport affects fluid secretion in exocrine glands and the epithelium of the respiratory gastrointestinal and .
