Current Pediatric Research

Neurofibromatosis type 1 (NF1) can occur along with other autoimmune diseases. We report the case of a child with coexisting neurofibromatosis and type 1 diabetes mellitus. A seven-year-old Yemeni girl, who was diagnosed with neurofibromatosis type 1 at birth, presented at the age of two months with her first episode of diabetic ketoacidosis. Further lab investigations during her follow-up sessions showed a decreased level of growth hormone. Abnormal neurofibromin production is the main pathophysiology of neurofibromatosis that contributes to an increased susceptibility to tumors and other coexisting autoimmune diseases; this requires further discussion. This is, to the best of our knowledge, the third case reported to have this rare combination of a de novo mutation causing NF1 and an autoimmune disease, which is type 1 diabetes mellitus.

Author(s): Amal Zaki, Atheer Asiri, Abdulmoein Eid Al-Agha*

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