Distinct Presentations of Langerhans Cell Histiocytosis in Children: A Case Series

Abstract

Langerhans cell histiocytosis (LCH) is a rare pediatric histiocytic disorder characterized by diverse clinical manifestations, ranging from isolated lesions to severe multisystem involvement. This case series presents three distinct presentations observed in children. The first case involved a 4-year-old female presenting with generalized lymphadenopathy, polyuria, polydipsia, bilateral vision loss, and systemic symptoms, indicative of significant pituitary and multisystem involvement. Imaging revealed lesions involving the pituitary gland, hypothalamus, and sphenoid sinus. The second case described a 10-year-old male experiencing respiratory distress, significant weight loss, polyuria, and multiple lytic bone lesions. Diagnostic imaging identified extensive colonic involvement, bilateral hydronephrosis, and pulmonary lesions, emphasizing unusual systemic features. The third patient, an 18-month-old child, initially presented with persistent respiratory symptoms, a diffuse rash, severe acute malnutrition, and hepatomegaly and was initially misdiagnosed as having tuberculosis. Later imaging studies revealed extensive pulmonary cystic lesions. Immunohistochemistry from the tissue biopsy demonstrated CD1a positivity, confirming LCH diagnoses. Treatment strategies included standard induction protocols with vinblastine and corticosteroids. These cases show how LCH can present in many different ways in pediatric patients, often in unexpected patterns. Early recognition, thorough imaging, and histological confirmation are crucial for accurate diagnosis. Being aware of the wide range of symptoms can help ensure prompt treatment and better outcomes for this serious but manageable condition.

Keywords: CD1a positivity; Langerhans cell histiocytosis; case series; pediatric.

Figure 1

(a) There is a heterogeneously hyperintense lesion in the sphenoid sinus on sagittal T2W, (b) with intermediate signal intensity on T1W, associated with a nodular intermediate signal intensity lesion involving the pituitary, infundibulum, and hypothalamus. (c) Both the sphenoid sinus and intracranial sellar and suprasellar components show homogeneous contrast enhancement on sagittal T1+C. (d) There is optic tract and optic chiasm edema on axial FLAIR. (e) Axial CT scan in the bone window shows midline basal skull destruction and otomastoid air cell opacification, (f) while the sphenoid sinus and intracranial soft tissue components demonstrate enhancement on the soft tissue window of sagittal CT MPR (f).

Figure 2

(a, b) There are multiple lytic lesions involving the lower thoracic, all lumbar, and sacral vertebrae, as well as the iliac bones, on thoracolumbar and pelvic CT (bone window) (indicated by horizontal and vertical fat arrows) taken on the first visit. (c, d) Taken after 2 months, they show an increase in the number and size of the lytic lesions and the development of a pathologic wedge compression fracture of the Th8 vertebra (elbow arrow) and a lesion on the included sternum.

Figure 3

(a, b) Chest CT scan (lung window) shows diffuse, multiple, confluent, and bizarre-shaped air-containing cysts with perceptible walls and septal thickening (horizontal and vertical fat arrows) in all lobes, along with a few superimposed segmental ground-glass attenuations (elbow connector arrow). (c, d) There are scattered multiple hypodense lesions involving both liver lobes on upper abdomen CT (shown by arrow down and arrow right).