Multiple Endocrine Neoplasia Type 1 Presenting as Psychosis

Ms. A was a 59-year-old Asian woman who had been hospitalized for approximately 3 years. Her first psychotic episode, characterized by auditory and visual hallucinations, delusions, and catatonia, occurred at age 44. She had been hospitalized at ages 47, 50, 53, and 54 for similar psychotic episodes, each persisting for about 3 months. At her most recent hospitalization, her psychiatric symptoms were not alleviated by any antipsychotics and mood stabilizers; only lithium was slightly effective. From a general examination to determine the cause of her severe constipation, a nonfunctioning islet cell carcinoma of the pancreas was unexpectedly discovered. Her serum levels of gastrin, insulin, and glucagon were normal. A subsequent partial pancreatectomy did not relieve her psychiatric symptoms. Three months after the operation, a high level of serum parathyroid hormone was found during an examination for osteoporosis. These two extraordinary endocrine findings led us to suspect multiple endocrine neoplasia type 1. Magnetic resonance imaging and ultrasonography revealed a microadenoma of the anterior pituitary gland and a swelling of the parathyroid gland. The diagnosis was confirmed by detection of a deficit of the heterozygous 357del4 multiple endocrine neoplasia type 1 gene on exon 2 chromosome 11q (2). The serum concentrations of prolactin, growth hormone, and adrenocorticotropic hormone were normal. The microadenoma of the anterior pituitary gland was nonfunctioning and did not need treatment in particular. The parathyroid swelling necessitated surgical treatment. A high level of serum parathyroid hormone recovered within normal limits after the partial parathyroidectomy; however, the psychiatric symptoms did not improve.

We investigated the profile of hereditary disposition of Ms. A’s family. Two of her three descendants could be examined; however, we could not confirm the multiple endocrine neoplasia type 1 gene mutation and did not observe any endocrine disorders and psychiatric symptoms in these two descendants. On the contrary, her mother committed suicide under treatment for a gastrointestinal tumor.