Congenital lens dislocation and fatal cerebral vein thrombosis in a patient with homocysteinemia: a lesson for urgent screening of pediatric population

Autor:	Habib, Nourani Khojasteh, Abolghasem, Amiri
Rok vydání:	2013
Předmět:	Fatal Outcome Risk Factors Hyperhomocysteinemia Humans Thrombophilia Female Intracranial Thrombosis Lens Subluxation Child Magnetic Resonance Imaging
Zdroj:	Archives of Iranian medicine. 16(5)
ISSN:	1735-3947
Popis:	Congenital homocysteinemia is a genetic disease with various clinical manifestations such as thrombosis, lens dislocation and mental retardation and osteoporosis, so early diagnosis is important for decreasing the mortality and morbidity especially in pediatric populations. Here we describe a child with a presentation of coma with a past history of lens operation with unfortunate fatal clinical course, and a final diagnosis of congenital homocysteinemia.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::39d5384e4d79bd424a3ce4a618146cf9 https://pubmed.ncbi.nlm.nih.gov/23641747 Zobrazit plný text záznamu Plný text ve formátu PDF