Cranial Langerhans cell histiocytosis, ultrasound evaluation. Case report

Abstract

Introduction: Langerhans cell histiocytosis (LCH) is a rare hematological disorder of myeloid origin, with variable clinical presentation; it can affect bone and other organs. Ultrasound is a useful tool in the initial evaluation of patients with suggestive clinical symptoms and/or signs, allowing for timely diagnosis and early referral to tertiary care, as well as post-surgical follow-up using this harmless method. Case description: Older infant presenting with a two-week history of a mass in the skull that has been present for two weeks, with no accompanying symptoms. Physical examination: Mass in the right parietal region, circumscribed, cartilaginous consistency, covered by scalp, without erythema, edema, or pain on palpation. An ultrasound is performed at the site of the lesion, visualizing the brain in its entirety and the presence of a superficial intradural isoechoic image with well-defined edges and minimal vascularity on color Doppler, compressing the brain tissue. At the tertiary care level, the tumor was excised, and the histopathological report detailed numerous histiocytes with Langerhans cells. Immunohistochemistry reported CD1a markers: Positive, Langerin: Positive, S100: Positive; indicative of Langerhans cell histiocytosis. Chemotherapy is administered for one year. Follow-up ultrasound shows a decrease in intradural separation, with normal brain tissue adjacent to it and no evidence of tumor imaging. The patient is currently under observation and progressing favorably. Conclusion: Ultrasound is a non-invasive, easily accessible tool that can be used in the workplace to evaluate patients with masses in the skull.