A rare case of Langerhans cell histiocytosis with unexplained endocrine dysfunction and extensive skeletal involvement in a Pediatric patient.

Abstract

Langerhans cell histiocytosis (LCH) is a rare disorder in which Langerhans cells infiltrate various organs, causing damage to tissues. This case describes a 6-year-old male diagnosed with LCH, who presented with worsening symptoms of fatigue, excessive thirst, polyuria, and unexplained weight gain. Radiographic findings revealed extensive osteolytic lesions in the skull and long bones, consistent with LCH. Additionally, the patient developed significant endocrine dysfunction, including hypothyroidism, diabetes insipidus, and adrenal insufficiency, as confirmed through hormonal assays and imaging. The case emphasizes the importance of considering endocrine dysfunction in patients with LCH and underscores the role of a multidisciplinary approach in managing complex cases. Hormonal replacement therapy, along with chemotherapy for LCH, was initiated, and the patient showed clinical improvement.