A rare case of female fragile X syndrome with uncommon association of hyperglycemia and diabetic ketoacidosis managed conservatively in a low resource setting – A case report

Abstract

Introduction

Fragile X Syndrome (FXS) is the second most dominant cause of lifelong learning disability and the most common inherited cause of autism. While FXS is explicitly diagnosed in males, females show mild features thus early diagnosis is complicated in areas with no access to genetic testing and molecular diagnosis. Here, we report a case of FXS in a female patient with a rare manifestation of DKA.

Case presentation

This case was a 16-year-old female admitted with unconsciousness and hyperglycemia diagnosed with DKA. Additional physical examination showed signs typical for FXS such as long face, narrow brow, large ears, and connective tissue dysfunction in the form of flat foot and joint hypermobility. Due to limited resources molecular testing was not done, but clinical index of suspicion for FXS was high given the family history and physical examination.

Discussion

This case portrays the key signs and symptoms in diagnosing FXS in females as most of these signs are likely to be mild. This form of presentation with DKA is not usual in patients diagnosed with FXS and should serve as a reminder that there may be rare association. The absence of genetic testing in low income areas exacerbates the problem of diagnosis.

Conclusion

This case demonstrates that, despite the absence of genetic confirmation, symptoms of this condition can be identified in a patient early enough, and the results can be improved. Family history and the physical examination should be emphasized in these situations.