CASE REPORT II
The patient is a female child, 1 year and 1 month old, with a history of recurrent otorrhea, hospitalizations for otitis, diarrhea, and dehydration. During a hospitalization for inappetence and diarrhea, hepatosplenomegaly was observed, leading to a referral to a pediatric oncology service. Physical examination revealed hepatosplenomegaly, a tumor in the occipital region, skin abnormalities including petechiae on the thighs and inguinal region, and dermatitis on the scalp.
Imaging confirmed an expansive bone lesion in the occipital region and hepatosplenomegaly. Biopsies and tests led to a diagnosis of Langerhans Cell Histiocytosis (LCH). Chemotherapy was initiated according to the LCH 2009 protocol, with an initial partial response. However, recurrent hospitalizations were required due to complications. Second-line therapy with Cytarabine and Cladribine was attempted but had to be suspended due to septic shock.
A BRAF mutation test confirmed the pV600E mutation in the BRAF gene, leading to the initiation of Vemurafenib therapy. Initially, Vemurafenib showed a good response, with a reduction in organomegaly and resolution of skin lesions. After 12 months of continuous Vemurafenib therapy, maintenance antineoplastic therapy was introduced according to the LCH 2009 protocol. However, skin lesions recurred after discontinuing Vemurafenib. The medication was reintroduced, and the patient returned to the previous remission status. She has been on Vemurafenib for a total of 31 months, maintaining complete remission, excellent overall health, and quality of life.
The patient is currently 4 years old and continues to use Vemurafenib as the sole treatment.