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Severe ocular and risk organ involvement in a newborn with Langerhans Cell Histiocytosis
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  • Alice Brambilla,
  • Francesco PegoraroOrcid,
  • Maria Luisa Coniglio,
  • Roberto Caputo,
  • Anna Perrone,
  • Anna Maria Buccoliero,
  • Claudio Favre,
  • Elena Sieni
Alice Brambilla
Azienda Ospedaliero Universitaria Ospedale Pediatrico Meyer
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Francesco Pegoraro
Orcid
Azienda Ospedaliero Universitaria Ospedale Pediatrico Meyer
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Maria Luisa Coniglio
Azienda Ospedaliero Universitaria Ospedale Pediatrico Meyer
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Roberto Caputo
Azienda Ospedaliero Universitaria Ospedale Pediatrico Meyer
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Anna Perrone
Azienda Ospedaliero Universitaria Ospedale Pediatrico Meyer
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Anna Maria Buccoliero
Azienda Ospedaliero Universitaria Ospedale Pediatrico Meyer
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Claudio Favre
Azienda Ospedaliero Universitaria Ospedale Pediatrico Meyer
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Elena Sieni
Azienda Ospedaliero Universitaria Ospedale Pediatrico Meyer
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Abstract

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.