Patient With Niemann-Pick Type C Presenting With a Jaw Mass Characterized With Lymph Node Involvement by Niemann-Pick Cells


İNCİ A. , OKUR İ. , ESENDAĞLI G. , OKUR A. , Olgac A., EZGÜ F. S. , ...Daha Fazla

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, cilt.40, sa.3, ss.243-245, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 40 Konu: 3
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1097/mph.0000000000000881
  • Dergi Adı: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
  • Sayfa Sayıları: ss.243-245

Özet

Niemann-Pick type C disease (NPC) is an autosomal recessive disorder resulting in accumulation of unesterified lysosomal cholesterol. An 8-year-old girl with NPC disease had a painless, rigid, and fixed mass measuring 3 cm in diameter located on the left angular region of mandibula. The mass biopsy showed lipid-laden phagocytic cells infiltrating the lymph node consistent with Niemann-Pick cells. In NPC, accumulation of cholesterol in tissues could be seen not only in reticuloendothelial and nervous systems, but also in all systems. Our case is important for it being the first case of NPC with submandibular lymphadenopathy characterized with NPC cell infiltration.