Background: Homocystinuria in the etiology of sinüs vein thrombosis presented with focal seizure.

Aims: Homocystinuria is a multisystemic metabolic disorder with an autosomal recessive transition with a frequency of 1/100.000-200.000. Main findings are arterial and venous thrombosis, myopia and lens dislocation in many organs. Thrombotic complications may lead to different neurological findings in homocystinuria. Especially in sinüs thrombosis, partial or generalized seizures may ocur which are treatment-resistant.

Methods: 11 months old male child admitted to the emergency department with focal seizure and revealed thrombosis in the superior sagittal sinüs by cranial imaging. Serum homocysteine level was found high in the examinations. In genetic analysis, the diagnosis of homocystinuria was confirmed upon the detection of homogenous p.Arg379Gln (c.1136G>A) variant in the methylenetetrahydrofolate reductase heterozygous mutation and cistationin beta synthase gene (NM_000071).

Results: We wanted to share the importance of considering neurometabolic diseases in terms of early diagnosis and treatment in the differential diagnosis of cases with cranial thrombosis presenting with seizures.

Conclusions:

[Cranial Magnetic Resonance Image 1]

[Cranial Magnetic Resonance Image 2]

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ISTH Congress Abstracts - https://abstracts.isth.org/abstract/homocystinuria-in-the-etiology-of-sinus-vein-thrombosis-presented-with-focal-seizure-a-case-report/