4 research outputs found
Co-existence of Two Rare Conditions: Oculo-Palato-Cerebral Syndrome and Congenital Chylothorax
Background: Oculo-palato-cerebral syndrome is an extremely rare condition characterized by various features, including low-birth weight, microcephaly, cerebral atrophy, mild-to-severe developmental delay, cleft palate, persistent hyperplastic primary vitreous, microphthalmia, small hands and feet, joint laxity, and large ears with thick helices. Diagnosis of this syndrome is based on the clinical manifestations, particularly the presence of persistent hyperplastic primary vitreous in association with other malformations. Congenital chylothorax is also a rare condition in the neonatal period, which is caused by the abnormal accumulation of the lymphatic fluid within the pleural space. This condition may be detected prenatally or during the neonatal period.
Case report: We presented the case of a patient with oculo-palato-cerebral syndrome and congenital chylothorax based on a literature review.
Conclusion: Oculo-palato-cerebral syndrome and congenital chylothorax are both rare conditions. To the best of our knowledge, this was the first case report on congenital chylothorax in association with oculo-palato-cerebral syndrome in the available literature. Since there have only been five case reports on these patients, further evidence is required to confirm the possible association between these rare conditions
Octreotide treatment in a neonate with non-chylous pleural effusion
Fetal pleural effusion is a rare condition. While it may regress spontaneously, it may also continue up to the post-natal period. This condition may be treated by thoracentesis, thoracoabdominal shunt application and pleurodesis in the intrauterine period while thoracentesis or tube thoracostomy may be used in the post-natal period. In cases where the fluid is defined to represent chylothorax, octreotide, a somatostatin analogue, may be administered for treatment. In this case report, we discussed the outcomes of treatment with octreotide administered in a neonatal case under follow-up due to fetal pleural effusion and with non-chylous ascites detected in the post-natal period
Microvillus Inclusion Disease Associated with Necrotizing Enterocolitis in a Premature Infant
Abstract
Microvillus inclusion disease is one of the congenital diarrheal disorders characterized by the appearance of inclusion bodies on the intestinal epithelium. To date there are a few cases and also a few other associated finding reports related to this life-threatening disease in literature. In this report, we present a premature infant with microvillus inclusion disease that was associated with necrotizing enterocolitis. Thus, we should be aware of the appearance of necrotizing enterocolitis in patients with microvillus inclusion disease, especially when contributing factors are present