Hyperhomocysteinemia and paediatric stroke: A case series

Author(s): Anuja Sonika1, Kinikar Utkarsha S1, Dhanawade Sara S 1
1Department of Paediatrics, Bharati Vidyapeeth (Deemed to be University) Medical College and Hospital, Sangli, Maharashtra, India.
Copyright © Anuja Sonika, Kinikar Utkarsha S, Dhanawade Sara S. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Background: Cerebrovascular disease in children is a rare occurrence with an annual incidence of 2.7/100,000 children. There are limited reports revealing stroke in pediatric population associated with hyperhomocysteinemia. We present a series of cases discussing the clinicolaboratory, radiological findings and management of children presenting with hyperhomocysteinemia and stroke.
Aim and Objective: To study the clinicolaboratory profile, radiological findings and outcome of children with hyperhomocystienemia and stroke.

Methodology: This is a retrospective observational study where case records of paediatric patients (<18 years) who had stroke associated with Hyperhomocysteinemia were studied. Over the last five years, seven were diagnosed with hyperhomocystienemia associated with paediatric stroke.
Results: Out of the seven patients, six of them presented with headache and hemiparesis, one presented with convulsions. Mean age of presentation was 9 $\pm$1.5 years. Neuroimaging in all suggested acute cerebrovascular infracts. All had elevated homocysteine levels and five had documented low vitamin B12 levels. MTHFR gene was positive in one patient. Bilateral lens dislocation was observed in three of them. Intellectual disability was observed in four of these patients, and marfanoid features were seen in three of them. All the patients were started on low dose aspirin and polyvitamin therapy. Four patients had complete recovery, one is still improving and one was lost to follow up. Recurrence was observed in one patient.
Conclusion: Commonest symptoms were headache and hemiparesis. Manifestations of hyperhomocysteinemia can start in infancy. Homocystiene estimation should be included in work up of paediatric stroke and polyvitamin therapy should be included in management.

Keywords: Hyperhomocysteinemia; Stroke; Pediatric stroke.