Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Vitamin E is one of the most important lipid-soluble antioxidant nutrients. Severe vitamin E deficiency can have a profound effect on the central nervous system. Cystic fibrosis, chronic cholestatic liver disease, abetalipoproteinemia, short bowel syndrome, isolated vitamin E deficiency syndrome and other malabsorption syndromes all may cause varying degrees of neurologic deficits due to related vitamin deficiencies. The classic abnormalities in vitamin E deficiency progress from hyporeflexia, ataxia, limitations in upward gaze and strabismus to long-tract defects, profound muscle weakness and visual field constriction. Patients with severe, prolonged deficiency may develop complete blindness, dementia and cardiac arrhythmias. Treatment must be tailored to the underlying cause of vitamin E deficiency and may include oral or parenteral vitamin supplementation. The more advanced the deficits, the more limited the response to therapy. Therefore, a good neurologic examination and periodic serum vitamin E levels are essential in patients at risk of vitamin E deficiency.
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PMID:Neurologic findings in vitamin E deficiency. 901 78

Liver fibrocystic disease (LFCD), characterized by dilatation of the intrahepatic bile ducts and variable degree of fibrosis, can be present alone or as part of many syndromes, such as Bardet-Biedl syndrome (BBS), Meckel syndrome, Jeune asphyxiating thoracic dysplasia, and Fraser-Jequier-Chen syndrome. We report two cases of LFCD and polydactyly with features similar, but not diagnostic of, BBS. Patient 1 was an 18-month-old boy with mental retardation, polydactyly, chronic renal failure, convergent strabismus, and hepatic fibrosis. Patient 2 was a male neonate with LFCD and polydactyly. Their manifestations could not be diagnosed as any of the previous mentioned entities. Difficulties in the early diagnosis of BBS have been previously reported and this could explain the clinical variability and heterogeneity of manifestations at the time of diagnosis. On the other hand, the existence of liver abnormalities in association with BBS has been previously described, but is rare. Our patients' malformations might represent a new entity where autosomal recessive inheritance is probable, but other patterns cannot be ruled out.
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PMID:Liver fibrocystic disease and polydactyly: proposal of a new syndrome. 1134 30

The authors report the correlation between chest physiotherapy and increased risk of vitreous hemorrhage after laser photocoagulation therapy in patients with retinopathy of prematurity (ROP). Two premature neonates, the first born at 26 weeks and the second at 31 weeks gestational age, both underwent chest physiotherapy, the first for congenital cystic fibrosis and bronchopulmonary dysplasia and the second for premature alveolar atelectasis. Both were diagnosed as having ROP that necessitated laser photocoagulation treatment at 34 and 37 weeks, respectively. The first patient developed bilateral vitreous hemorrhage and bilateral cataracts. The second patient developed vitreous hemorrhage in one eye. Chest physiotherapy in neonates with ROP significantly increases the risk of hemorrhage after laser photocoagulation in an otherwise fragile retinal vasculature.
J Pediatr Ophthalmol Strabismus 2013 Feb 19
PMID:Laser photocoagulation in patients with retinopathy of prematurity undergoing chest physiotherapy. 2341 23

An acute case of bilateral optic neuritis secondary to chloromycetin administration in a child with cystic fibrosis is described. We believe this to be the first description of the fluorescein angiographic finding in such case.
J Pediatr Ophthalmol Strabismus
PMID:Chloramphenicol-induced acute bilateral optic neuritis in cystic fibrosis. 2487 19