A Case Of Pediatric Oral Maxillofacial Erdheim-Chester Disease

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis. We collected a case of ECD during a clinical collaboration. A 14-year-old male patient was admitted to the hospital due to unsteady gait for five months. Three months ago, he visited another hospital for unsteady walk and developmental delay, and received traditional Chinese medicine treatment, but saw no improvement. Family and allergy histories were unremarkable. On admission, MRI showed a space-occupying lesion in the sellar and parasellar regions with thickened tentorium cerebelli. Low-glucose stimulation test indicated complete growth hormone deficiency. A whole-body bone scan plus SPECT/CT showed maxillofacial bone metabolic abnormalities, unevenly increased density (maxillae most affected), bone destruction with soft tissue shadows in maxillae and mandible, small maxillary sinus cavities with high-density shadows, sellar and cavernous sinus area soft tissue density shadows, an enlarged sella turcica on skull views, increased radiotracer uptake in the upper right tibia. Pulmonary CT showing multiple small pulmonary nodules with interstitial changes, thickened interlobar fissures, and reduced transparency in both lung apices. Ophthalmological examination showed poor convergence reflex, nystagmus, and vitreous opacities. A biopsy of the right maxilla revealed foamy histiocyte infiltration. Immunohistochemistry showed CD68(+) FVIII(+), Vimentin(+), CD34(+), S100(-), CD1a(-), CK(-), HMB45(-), Ki67(-), SATB2(-), SF-1(-), Melanoma(-). A Braf gene mutation was detected in exon 15. Based on these findings, ECD was diagnosed. The patient was treated with subcutaneous recombinant human interferon α, resulting in symptom improvement.