A 13-Month-Old Iranian Boy with Thrombosis of the Left Transverse and Superior Sagittal Sinuses Due to Homozygous Mutations in MTHFR A1298C: A Case Report & Review of Literature
Sasan Saket1,2*, Mohammadreza Arzaghi3, Atousa Karimi4, Mohammad Mahdi Nasehi5,2, Fariba Shirvani6, Farzad AhmadAbadi7,2, Shahrzad Falah8, Fakhreddin Shariatmadari9, Behzad Poopak10 and Hussein Soleimantabar11
1 Assistant Professor of Pediatric Neurology, Department of Pediatric Neurology, School of Medicine, Imam Hossein & Mofid Children's Hospitals, Tehran, Iran. * ORCID: 0000-0002-7118-0964.
2 Iranian Child Neurology Center of Excellence (ICNCE), Pediatric Neurology Research Center, Mofid Children's Hospital, Tehran, Iran.
3 General Practitioner, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. * ORCID: 0000-0002-4828-6357.
4 Assistant Professor of Infertility, Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran. * ORCID: 0000-0002-0389-0577.
5 Professor of Pediatric Neurology, Department of Pediatric Neurology, School of Medicine, Mofid Children's Hospital, Tehran, Iran. * ORCID: 0000-0002-1981-3592.
6 Professor of Pediatric Infectious Disease, Department of Pediatric Infectious Disease, School of Medicine, Imam Hossein Hospital, Tehran, Iran. * ORCID: 0000-0002-4893-6452.
7 Associate Professor of Pediatric Neurology, Department of Pediatric Neurology, School of Medicine, Mofid Children's Hospital, Tehran, Iran. * ORCID: 0000-0002-8738-4398.
8 Assistant Professor of Allergy and Clinical Immunology, Department of Pediatrics, School of Medicine, Imam Hossein & Mofid Children's Hospitals, Tehran, Iran. * ORCID: 0000-0002-7921-6028.
9 Assistant Professor of Pediatric Neurology, Department of Pediatric Neurology, School of Medicine, Amir Kabir Hospital, Arak, Iran. * ORCID: 0000-0001-8563-2477.
10 Associate Professor of Hematology, Islamic Azad University, Tehran Medical Sciences Branch, Tehran, Iran. * ORCID: 0000-0002-3576-767X
11 Assistant Professor of Radiology, Department of Radiology, School of Medicine, Imam Hossein Hospital, Tehran, Iran. * ORCID: 0000-0003-3329-0406.
*Corresponding Author: Sasan Saket,MD, Assistant Professor of Pediatric Neurology, Department of Pediatric Neurology, School of Medicine, Imam Hossein & Mofid Children's Hospitals, Tehran, Iran. * ORCID: 0000-0002-7118-0964.
DOI: https://doi.org/10.58624/SVOANE.2023.04.0100
Received: June 30, 2023 Published: July 24, 2023
Abstract
Background and Aim: Cerebral sinus venous thrombosis (CSVT) is a rare stroke subtype in children, with limited data on its clinical presentation, etiology, and outcomes. This case report aims to describe a case of CSVT in a child, including their clinical presentation, imaging findings, and management, to increase awareness of this rare but serious condition.
Case presentation: A 13-month-old boy presented with swelling and deviation of the left eye after being hospitalized for left periorbital cellulitis. The patient was diagnosed with thrombosis of the left transverse and superior sagittal sinuses and underwent treatment with levetiracetam, folinic acid, rosuvastatin and enoxaparin followed by warfarin. Genetic testing was also performed to identify the underlying genetic basis of thrombophilia.
Results: Laboratory tests showed that there was one heterozygous mutation in the β-Fibrinogen gene and three homozygous mutations in MTHFR A1298C, PAI-I-675 4G/5G, and PAI-I-844 G/A genes. Additionally, Lipoprotein (a) was measured at 89.3 nmol/L and the patient's mother had two homozygous mutations in PAI-I-675 4G/5G and PAI-I-844 G/ A genes.
Conclusions: It appears that the mutation in MTHFR gene is more prevalent in our region, which may be a contributing factor to the increased incidence of stroke in children and adolescents in the country. Further research is needed to determine the prevalence of this mutation and its impact on thrombophilia in the population. This case highlights the importance of prompt diagnosis and treatment of CSVT in children, as well as the need for genetic counselling and testing to identify underlying risk factors.
Keywords: cerebral sinus venous thrombosis, Pediatric Stroke, MTHFR gene defect.
Citation: Saket S, Arzaghi M, Karimi A, Nasehi MM, Shirvani F, AhmadAbadi F, Falah S, Shariatmadari F, Poopak B, Soleimantabar H. A 13-Month-Old Iranian Boy with Thrombosis of the Left Transverse and Superior Sagittal Sinuses Due to Homozygous Mutations in MTHFR A1298C: A Case Report & Review of Literature. SVOA Neurology 2023, 4:4, 103-107.
