Homocystinuria presents with generalized tonic-clonic seizure and Broca's aphasia

  • Authors

    • Dr. Vivek R. Chaudhari GMERS Medical College and Hospital, Himmatnagar
    • Dr. Jigar Mankad Health1 Super specialty hospital, Shilaj
    • Dr. Janki Lavingia Zydus Multi specialty Hospital, Sarkhej
    • Dr. Manisha Panchal GMERS Medical College and Hospital, Himmatnagar
    2022-08-27
    https://doi.org/10.14419/ijm.v10i1.32096
  • Cystathionine Beta-Synthase, Homocystinuria, Methionine, Thrombosis, Vascular Event.

  • Abstract

    Homocystinuria follows an autosomal recessive pattern and transpires due to Cystathionine beta-synthase enzyme deficiency. This condition is associated with thrombotic and thromboembolic complications due to an increase in homocysteine and methionine levels in the plasma and urine. We present a case of an Indian adolescent boy who presented to us with generalized tonic clinic seizure and Broca's aphasia he was diagnosed as having homocystinuria type 1, and he responded well to treatment.

    Background: Stroke and seizure disorders in young adults have increased substantially and are a relatively common disorder that presents in the emergency department in all age groups. Secondary seizures are more common and manifest as a result of another underlying pathology. This case demonstrates the importance of considering rarer causes of thrombosis such as arterial thrombosis, even in younger patients, with no obvious risk factors or comorbidities. A detailed medical history and thorough investigations need to be taken to identify a potentially treatable underlying cause.

    Objective: To increase awareness about this rare etiology and help clinicians to have a higher level of suspicion to diagnose this condition and prevent future life-threatening complications in younger patients with thrombotic and thromboembolic events.

     

     


     

  • References

    1. [1] Grieco AJ. Homocystinuria: pathogenetic mechanisms. Am J Med Sci. 1977 Mar-Apr;273(2):120-32. [PMID: 324277]. https://pubmed.ncbi.nlm.nih.gov/324277/. https://doi.org/10.1097/00000441-197703000-00001.

      [2] Rezvani I. Defects in metabolism of amino acids. Methionine. In: Behrman RE, Kliegman RM, Jenson HB, editors. Nelson Textbook of Pediatrics, 16th ed. Philadelphia: Saunders; 2000. p. 350-2.

      [3] Fatima S, Hafeez A, Ijaz A, Asif N, Awan A, Sajid A. Classical Homocystinuria in a Juvenile Patient. J Coll Physicians Surg Pak. 2018 Jun; 28(6):488-489. [PMID: 29848432]. https://pubmed.ncbi.nlm.nih.gov/29848432/. https://doi.org/10.29271/jcpsp.2018.06.488.

      [4] Sulochana KN, Amirthalakshmi S, Vasanthi SB, Tamilselvi R, Ramakrishnan S. Homocystinuria with congenital/developmental cataract. Indian J Pediatr. 2000 Oct; 67(10):725-8. [PMID: 11105422]. https://pubmed.ncbi.nlm.nih.gov/11105422/. https://doi.org/10.1007/BF02723928.

      [5] Weber Hoss GR, Sperb-Ludwig F, Schwartz IVD, Blom HJ. Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases. Mol Genet Genomic Med. 2020 June; 8(6):e1214. Epub 2020 Mar 30. [PMID: 32232970]; PMCID: PMC7284035. https://pubmed.ncbi.nlm.nih.gov/32232970/. https://doi.org/10.1002/mgg3.1214.

      [6] Undas A, Brozek J, Szczeklik A. Homocysteine and thrombosis: from basic science to clinical evidence. Thromb Haemost. 2005 Nov; 94(5):907-15. [PMID: 16363230]. https://pubmed.ncbi.nlm.nih.gov/16363230/. https://doi.org/10.1160/TH05-05-0313.

      [7] Sunil G, Pooja D, Tarun D. Homocystinuria: A rare cause of megaloblastic anemia. Indian Pediatr 2004; 41:9413. https://pubmed.ncbi.nlm.nih.gov/15475638/.

  • Downloads

    Additional Files

  • How to Cite

    Vivek R. Chaudhari, D., Jigar Mankad, D., Janki Lavingia, D., & Manisha Panchal, D. (2022). Homocystinuria presents with generalized tonic-clonic seizure and Broca’s aphasia. International Journal of Medicine, 10(1), 12-14. https://doi.org/10.14419/ijm.v10i1.32096

    Received date: 2022-06-08

    Accepted date: 2022-07-17

    Published date: 2022-08-27