Severe ocular and risk organ involvement in a newborn with Langerhans
Langerhans Cell Histiocytosis (LCH) is a rare proliferative disease of
the mononuclear phagocyte system, characterised by tissue infiltration
of CD1a+ CD207+ histiocytes. The clinical presentation is variable,
ranging from unifocal asymptomatic bone involvement to life-threatening
multisystem disease, requiring aggressive therapeutic approaches.
Intraocular involvement is uncommon and associated to poor visual and
general prognosis. Herein, we report a case of LCH in a newborn with
ocular and multisystem risk organ involvement, unresponsive to several
lines of chemotherapy. Off-label administration of vemurafenib led to
dramatic improvement at systemic level; however, chronic sequelae of
ocular involvement resulted in poor visual prognosis.