Classic homocystinuria and keratoconus: a case report
نویسندگان
چکیده
منابع مشابه
Vision of correction for classic homocystinuria.
Inherited metabolic disorders are often characterized by the lack of an essential enzyme and are currently treated by dietary restriction and other strategies to replace the substrates or products of the missing enzyme. Patients with homocystinuria lack the enzyme cystathionine β-synthase (CBS), and many of these individuals do not respond to current treatment protocols. In this issue of the JC...
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Inherited homocystinuria is a rare autosomal recessive aminoacidopathy which through early diagnosis can prevent its severe neurologic and vascular complications. Here we report a 9-year-old girl with homocystinuria, presenting with sequential symptoms of bilateral lens dislocation, skeletal complication, and eventually dystonia from the age of 4 years. Laboratory evaluation revealed severe hig...
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A 60-year-old male from the Mediterranean area presented with edematous right leg and livid nodules and macules on the skin of upper and lower extremities. Biopsy specimen obtained from the right upper leg showed a pathohistologic finding indicative of Kaposi's sarcoma. Polymerase chain reaction testing revealed HHV-8 in the skin lesion. Serology for HIV was negative. Additional examinations di...
متن کاملSoft contact lenses for keratoconus: case report.
PURPOSE Contact lenses have assisted the refractive correction of keratoconus since the 19th century. In these case reports, the authors describe their experience with a new soft contact lens design. METHODS The Soft K is a new soft lens comprising a thick fenestrated design to fit in patients with mild to moderate corneal distortion and fitting problems or physical intolerance to rigid gas-p...
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OBJECTIVE To report a rare complication of homocystinuria in a child and highlight the association of homocystinuria with lower gastrointestinal bleeding and intestinal thrombosis. CLINICAL PRESENTATION AND INTERVENTION A 7-year-old boy with homocystinuria and poor compliance with treatment presented with abdominal pain and bloody stools. Doppler ultrasound showed superior mesenteric and midd...
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ژورنال
عنوان ژورنال: Arquivos Brasileiros de Oftalmologia
سال: 2018
ISSN: 0004-2749
DOI: 10.5935/0004-2749.20180065