Ehlers-Danlos syndromes and their manifestations in the visual system.

Ehlers-Danlos syndrome (EDS) is a rare, genetically variable, heterogenous group of (currently recognized) thirteen connective tissue disorders characterized by skin hyperextensibility, tissue fragility, and generalized joint hypermobility. In addition to these commonly recognized phenotypes, recent studies have notably highlighted variable ophthalmic features in EDS. In this review, we comprehensively gather and discuss the ocular manifestations of EDS and its thirteen subtypes in the clinical setting.

Evaluation and Clinical Course of Keratomalacia With Descemetocele in a Child With Autism and Vitamin A Deficiency.

Autistic children with selective diets have an elevated risk for vitamin A deficiency. The authors present the case of a 7-year-old boy with keratomalacia resulting from dietary vitamin A deficiency. Optical coherence tomography and ultrasound biomicroscopy can provide useful details of the cornea and underlying structures. Vitamin A supplementation can result in significant resolution, obviating the need for surgical intervention. [J Pediatr Ophthalmol Strabismus. 2020;57:e1-e3.].

Evaluation and Treatment of Severe Rhabdomyolysis in a Patient with Legionnaires' Disease.

A 53-year-old man with alcoholism and a three-day history of diarrhea and abdominal pain was hospitalized with mild acute kidney injury (AKI) and rhabdomyolysis after a fall where he was down for a short duration. Subsequent testing revealed patchy right lower lobe infiltrates on chest X-ray and a positive urinary Legionella antigen test. Creatinine phosphokinase (CPK) peaked at 85,780 U/L (normal 0-250) on hospital day two and remained markedly elevated for five days despite aggressive intravenous (IV) hydration and appropriate antibiotic treatment. When the patient defervesced and showed clinical signs of resolution of pneumonia, the CPK level declined rapidly, and renal function returned to baseline. Rhabdomyolysis with AKI is a rare but serious complication of Legionella pneumonia, with most patients requiring dialysis. Our patient's complete recovery without renal replacement therapy can probably be attributed to his normal baseline renal function, timely diagnosis of his Legionella-associated rhabdomyolysis, and prompt treatment with aggressive IV hydration and appropriate antibiotics. Legionella infection should be considered in acutely ill patients with rhabdomyolysis of unclear etiology.