Difficulties in diagnosing multisystem Langerhans cell histiocytosis in children: a case report

Abstract

Langerhans cell histiocytosis (LCH) is a rare disease with an unclear aetiology and extremely heterogenous clinical symptomatology. In the following manuscript, we discuss a case of a 3.5-year-old boy diagnosed with the multisystem form of LCH (MS-LCH) with involvement of the digestive tract, liver, bones, and skin. An increased abdominal circumference and diarrhoea were the first symptoms of the disease presented by the patient. The final diagnosis was made approximately 12-18 months after the early manifestations of the disease were reported. This case study clearly shows that in spite of significant progress in the health sciences, LCH still poses serious diagnostic difficulties, which may result in a delay in treatment and thus negatively affect the patient's prognosis.