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Case Reports 2011; 32(5): 623-626 PubMed PMID: 22167132 Citation  Keywords:  Adult, Airway Obstruction:congenital, Constriction, Pathologic:diagnostic imaging, Fatal Outcome, Female, Fetal Diseases:diagnostic imaging, Humans, Infant, Newborn, Infant, Newborn, Diseases:diagnosis, Larynx:abnormalities, Lung:abnormalities, Pregnancy,.   

: Congenital high airway obstruction syndrome (CHAOS) is a very rare fetal malformation caused by obstruction of fetal airway because of laryngeal or tracheal atresia, subglottic stenosis, laryngeal cyst or laryngeal web. The prenatal diagnosis is inferred from secondary changes such as enlarged, hyperechogenic lungs, ascites and/or hydrops, flattened or everted diaphragms, dilated distal airways and mediastinal compression. There are only few cases of long-term survival described in literature. We present the case of fetus with such secondary changes diagnosed during routine ultrasound evaluation in 20 weeks' gestation. There were no other abnormalities and the kariotype was normal. In 26 weeks' gestation fetal hydrops appeared and subsequent polyhydramnios occurred in 28 weeks' gestation. The patient was planned for EXIT procedure during labor in experienced in CHAOS cases center. In 29 weeks' gestation the premature rupture of membranes and regular uterine contractions occurred and we've performed cesarean section. A multidisciplinary team of neonatologists, laryngologists and pediatric surgeons made their efforts to save the newborn, but there was complete laryngeal atresia and tracheal agenesia and immediate tracheostomy was impossible. The most important about CHAOS are early diagnosis, detailed fetal assessment and an adequate postnatal intervention for establishing fetal airways....

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Case Reports 2007; 28(6): 734-738 PubMed PMID: 18063929 Citation  Keywords:  Aorta, Abdominal:abnormalities, Aortic Diseases:complications, Child, Child, Preschool, Constriction, Pathologic, Female, Glioma:complications, Humans, Hypertension, Renovascular:complications, Hypertrophy, Left Ventricular:complications, Mutation, Neurof.   

OBJECTIVES: Neurofibromatosis von Recklinghausen type 1 (NF1) is an autosomal dominant neurocutaneous disorder affecting one in 3 000-4 000 individuals. Mid-aortic syndrome (MAS) is a rare condition characterized by segmental narrowing of abdominal aorta and stenosis of its major branches - mainly renal arteries, including manifestation of renovascular hypertension. MAS can be caused by different diseases, including NF1.

MAIN FINDINGS: A 9 years old girl with primary diagnosis of NF1 combined with renovascular hypertension due to MAS, suffered of bilateral optic and chiasm glioma, pubertas praecox, speech disorder, light mental retardation and scoliosis. We have found a mutation in exone 34 of the NF1 gene (17q11.2). Her father has been also diagnosed with NF1 and hypertension developed at early age. He has the same mutation in exone 34 of NF1 gene. The girl is currently treated with conservative antihypertensive medication with positive effect. Bilateral optic and chiasm glioma are asymptomatic at the time and they had been without progress over period of time. Any vascular surgery, neurosurgical and oncological therapy are not indicated at the present time.

CONCLUSION: This article is a summary of clinical findings in patient with NF1 due to NF1 gene mutation in exone 34. It confirms the importance of complex multidisciplinar approach to examination and taking care of NF1 patients and their families....

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