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.