Abstract
Lymphocytic hypophysitis, an inflammatory disorder of the pituitary stalk and gland, can cause multiple hormone deficiencies. The disease is considered to be of autoimmune etiology. We report here a case of lymphocytic hypophysitis with cortisol deficiency in an 18-year-old female who had been previously diagnosed with neurofibromatosis type 1. The case study also discusses the role of neurofibromin gene in autoimmunity and possible pathogenesis.
Highlights
Introductıon Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited disorder caused due to the loss of function of neurofibromin gene located on chromosome 17
We report here a case of NF1 with lymphocytic hypophysitis and its pathogenetic possibilities
Very low cortisol levels, elevated prolactin, enhanced pituitary stalk, and high ESR were suggestive of the diagnosis
Summary
Introductıon Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited disorder caused due to the loss of function of neurofibromin gene located on chromosome 17. We report here a case of NF1 with lymphocytic hypophysitis and its pathogenetic possibilities. Case report An 18-year-old female presented to the emergency medicine department with persistent vomiting and giddiness of one week duration. Her medical history revealed a previous diagnosis of NF1 and resection of right sided optic glioma around two years back.
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