Successful bone marrow transplantation in a case of Griscelli disease which presented in accelerated phase with neurological involvement

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Tezcan I., Sanal O., Ersoy F., Uckan D., Kilic S. Ş., Metin A., ...Daha Fazla

BONE MARROW TRANSPLANTATION, cilt.24, sa.8, ss.931-933, 1999 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Sayı: 8
  • Basım Tarihi: 1999
  • Doi Numarası: 10.1038/sj.bmt.1702007
  • Dergi Adı: BONE MARROW TRANSPLANTATION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.931-933
  • Anahtar Kelimeler: Griscelli disease, bone marrow transplantation, neurological involvement, PARTIAL ALBINISM, MYOSIN-VA, IMMUNODEFICIENCY, MUTATIONS
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

Griscelli disease (GD) is a rare disorder characterized by pigment dilution, immunodeficiency and occurrence of accelerated phase consisting of hemophagocytosis, pancytopenia and neurological manifestations, Allogeneic BMT in the early period is an important modality of treatment for GD, We carried out an alloBMT from an HLA-identical sibling donor on a 4-year-old girl who presented in accelerated phase with neurological manifestations including convulsions, strabismus, severe dysarthria, ataxia and clonus, She was treated with etoposide, methylprednisolone and intrathecal methotrexate for 8 weeks and underwent alloBMT after receiving a conditioning regimen including ATG (rabbit, 10 mg/kg x 5 days), Bu/Cy. 8 x 10(8)/kg nucleated bone marrow cells were given. Engraftment occurred early and the post-BRIT period was uneventful. Currently, she is at 18 months post BMT with sustained engraftment and with a normal neurological examination except for minimal clonus, Long-term follow-up will determine the prognosis regarding the neurological findings.