International Journal of Medical Case Reports

Volume 2, Issue 2, June 2023

  • Case Series: Neurofibromatosis Type 1 in 8 Pediatric Patients; Genotype and Phenotype Analysis

    Afërdita Tako Kumaraku, Kristi Aleksi, Aida Bushati, Armand Shehu, Blerina Saraçi, Renald Meçani, Paskal Cullufi

    Issue: Volume 2, Issue 2, June 2023
    Pages: 8-11
    Received: 7 April 2023
    Accepted: 2 May 2023
    Published: 17 May 2023
    Abstract: Neurofibromatosis type I is a multi-systemic disorder caused by variants in the neurofibromin, a gene on chromosome 17 that regulates a variety of cellular functions important for tumorigenesis. Clinically it is characterized by multiple café-au-lait spots, intertriginous freckling, neurofibromas, and learning disability or behavior problems. Neuro... Show More
  • A Case Report: Ruptured Testicular Seminoma in a Female with Ambiguous Genitalia, Dr. Sulman Alamin Medical Center, Elhassaheisa, Gezira State, Sudan; 2023

    Khalid Adam Babiker Suleiman, Omer Taha Ahmed Elmukashfi, Taha Ahmed Elmukashfi Elshiekh, Asma Mohammed Warrag Omer

    Issue: Volume 2, Issue 2, June 2023
    Pages: 12-15
    Received: 13 March 2023
    Accepted: 12 May 2023
    Published: 25 May 2023
    Abstract: Background: Ambiguous genitalia represent a sequel of sexual development disorders where the external genitalia don’t have a typical resemblance to that of male or female. Methods: This was a female case of ambiguous genitalia, her age was twenty-eight years, ultrasound examination revealed atrophied uterus and bilateral undescended testes. She com... Show More