Vol. 2 No. 1 (2019)
Case Report

Unusual Association of Facioscapulohumeral Dystrophy with Heterozygous Methylene Tetrahydrofolate Reductase and Prothrombin Gene Mutation the Same Patient: A Case Report

Mahmoud Rabab
Lecturer, Internal Medicine Department, Cairo University Hospitals, Al-Saray St., El-Manyal, 11562, Cairo, Egypt.
Hala El-Gendy
Professor, Internal Medicine Department, Cairo University Hospitals, Al-Saray St., El-Manyal, 11562, Cairo, Egypt.
Ali Samar
Resident, Internal Medicine Department, Cairo University Hospitals, Al-Saray St., El-Manyal, 11562, Cairo, Egypt.
Published October 9, 2019
Keywords
  • Facioscapulohumeraldystrophy,
  • Transverse cerebral Sinus Thrombosis,
  • Thrombophilia,
  • Headache,
  • EMG

Abstract

We report a case of 38 years old female with familial Facioscapulohumeral dystrophy (FSHD) associated with heterozygosity of Methylene Tetrahydrofolate Reductase (MTHFR) and prothrombin gene mutation presented with transverse cerebral sinus thrombosis.