Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis
Iranian Journal of Child Neurology,
Vol. 9 No. 2 (2015),
1 April 2015
,
Page 53-57
https://doi.org/10.22037/ijcn.v9i2.6147
Abstract
How to Cite This Article: Eslamiyeh H, Ashrafzadeh F, Akhondian J, Beiraghi Toosi M. Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis. Iran J Child Neurol. Spring 2015;9(2):53-57.
Abstract
Objective
Homocystinuria is an inborn error of amino acid metabolism caused by cystathionine beta-synthase deficiency that affects methionine metabolism. The clinical features are heterogeneous ranging from mental retardation, ectopia lentis, and osteoporosis to vascular events such as deep vein thrombosis, sagital sinus thrombosis, and myocardial infarction. Cerebral sinovenous thrombosis (CVST) is an unusual disorder in children and requires prompt and accurate management. Some causal factors for the
development of CVST differ between children and adults. The majority of cases with CSVT are found to have an underlying cause for thrombosis like dehydration, infections, prothrombotic and hematologic disorders, malignancy and trauma.
Although homocystinuria is usually associated with ischemic strokes, CVST as initial clinical presentation of homocystinuria is rare in children.
In this article, we presented a 10-year old boy with seizure, hemiparesis, and ataxia due to CSVT caused by homocystinuria.
- Cerebral sinovenous thrombosis
- Homocystinuria
- MRI
- MRV.
How to Cite
References
Kirton A, Deveber G. Cerebrovascular disease in children. In: Swaiman KF. Swaimans pediatric neurology.5th ed. New York: Elsevier; 2012. P: 1419-1426.
Hedlund GL. Cerebral sinovenous thrombosis in pediatric practice. Pediatr Radiol 2013; 43: 173-188.
Kirton A, Deveber G. cerebral sinovenous thrombosis. In: Nelson textbook of pediatrics.19TH edi. New York: Elsevire; 2011.P 2082-2084.
Enns G, Cowan T, klein O, Packman S. Aminoacidemias and organic acidemia. In: Swaiman KF. Swaiman pediatric neurology. 5th edi. New York: Elsevier; 2012. P 342-344.
Hedlund G.L. Cerebral sinovenous thrombosis in pediatric practice. Pediatr Radiol. 2013; 43: 173-188.
Chung B, Virginia W. Pediatric Stroke Among Hong Kong Chinese Subjects. Pediatrics. 2004; 114(2):
e206-e212.
Ashrafzadeh F, Akhondian J, Beiraghi Toosi M, Hashemi N. Extensive cerebral Sinovenous Thrombosis in a 5 Year Old Girl, Following Mild Dehydration. Iran Red Cres Med J. 2013; 15(12): e6418.
Rezvani I. Behrman RE, Kliegman RM, Jenson HB. Nelson Textbook of Pediatrics. 16th ed. Philadelphia: Saunders; 2000. Defects in metabolism of amino acids. Methionine; pp. 350–2.
Sunil G, Pooja D, Tarun D. Homocystinuria: A rare cause of megaloblastic anemia. Indian Pediatr. 2004; 41: 941–3.
Alehan F, Saygi S, Gedik S, Kayahan Ulu EM. Stroke in early childhood due to homocystinuria. Pediatr Neurol. 2010; 43: 294–6.
Alehan F, Saygi S, Gedik S, Kayahan Ulu EM. Stroke in early childhood due to homocystinuria. Pediatr Neurol. 2010 Oct; 43(4): 294-6.
Vanzin CS, Manfredini V, Marinho AE, Biancini GB, Ribas GS, Deon M, et al. Homocystein contribution to DNA damage in cystathionine β synthase-deficient patients. Gene 2014 [under print].
Sharma G, Attri SV, Behra B, Bhisikar S, Kumar P, Tageja M, et al. Analysis of 26 aminoacids in human plasma by HPLC using AQC as derivatizing agent and its application in metabolic laboratory. Amino Acids 2014 [under print].
Kaliaperumal S, Kumar KP. Varied phenotypic presentation of homocystinuria in two siblings. Indian J
ophthalmol 2014; 62: 93-4.
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