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

Abstract

Summary: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 × 5 days), Bu/Cy. 8 × 10 8 /kg nucleated bone marrow cells were given. Engraftment occurred early and the post-BMT 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.

Hematopoietic SCT in children with Griscelli syndrome: a single-center experience

“…Only a few cases of successful aHSCT have been described previously. [9][10][11][12][13][14] Schmid et al 26 recently reported their experience with aHSCT for 10 patients with type 2 GS. At a medium follow-up of 3.4 years, the OS was 70%.…”

“…To date, few cases of aHSCT in patients with GS have been reported. [9][10][11][12][13][14] Materials and methods Table 1. The median age at diagnosis was 6.8 (range, 0-17.2) months.…”

Griscelli syndrome and electroencephalography pattern

“…Griscelli and Prunieras 1 , in the first description of the syndrome, did not described any neurologic manifestations. Latter, many authors reported the presence of seizures, intracranial hypertension, hemiparesis, facial palsy, hypotonia, psychomotor and language delay, progressive neurologic deterioration, cerebellar signs and spasticity [4][5][6][7][8][9][10][11][12] . According to Malhotra et al 3 severe neurologic abnormalities are common in GS type 1 and may be absent in GS type 2.…”

Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation

“…We have been able to identify only five cases of GS in the literature treated with allogeneic HSCT, all from a family donor (Table 2). 7,9,14 In 1990 Schneider et al 9 reported one consanguinous family in which four of seven children had GS. Three patients died before 20 months of age; in the fourth sibling, allogeneic HSCT was performed at 4 months of age.…”

“…Two patients died during the immediate post-transplantation period of infectious complications, but one patient was cured and at the time of the report, the follow-up was 5 years. In 1999, Tezcan et al 14 carried out an allogeneic HSCT from an HLA-identical sibling donor on a 4-year-old girl with GS who presented in accelerated phase with neurological manifestations. She was treated with etoposide, methylprednisolone and intrathecal methotrexate for 8 weeks and underwent BMT after receiving a conditioning regimen including ALG (rabbit, 10 mg/kg ϫ 5 days), busulfan and cyclophosphamide.…”