Griscelli Syndrome Treatment & Management

Updated: Jan 14, 2020
  • Author: Saud A Alobaida, MBBS, FRCPC; Chief Editor: Dirk M Elston, MD  more...
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Treatment

Medical Care

A multidisciplinary team should manage patients with Griscelli syndrome (GS) types 1 and 2.

Griscelli syndrome type 1

In Griscelli syndrome type 1, no specific treatment exists because the defect is in the brain rather than in the blood cells, as in Griscelli syndrome type 2. The severe neurologic impairment and retarded psychomotor development are permanent.

Griscelli Syndrome type 2

Bone marrow (or stem cell) transplantation is the only real treatment option for the hemophagocytic lymphohistiocytosis (HLH) syndromes in Griscelli syndrome type 2. This has received evidence-based support in an Italian study of 61 patients with Griscelli syndrome type 2, reported in 2009. [54] Similarly, a Swedish study with 5 patients with Griscelli syndrome type 2 responded to stem cell transplantation. [55, 56]

In preparation for transplantation, various immunosuppressive regimens have been used to attenuate hemophagocytic syndrome (HS) (accelerated phase).

Mehdizadeh and Zamani [57] noted a 10-year-old boy with Griscelli syndrome type 2 and macrophage activation syndrome, which was controlled with immunosuppressive therapy.

Care might require antimicrobial therapy. Patients who have seizures must be monitored and treated accordingly. Unfortunately, antibiotics and antiviral agents are used with mixed effects. Similarly, medications may not control the neurologic symptoms of the disease.

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Surgical Care

Bone marrow transplantation is the most effective treatment for this condition. Bone marrow transplantation is the only possible cure for Griscelli syndrome (GS) type 2. [58] Even a low number of donor cells in the patient's bone marrow can be sufficient to control symptoms of Griscelli syndrome type 2.

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Consultations

The specialists who are most involved in the care of Griscelli syndrome (GS) include geneticists, hematologists, dermatologists, neurologists, and pediatricians. Once a diagnosis is made in Griscelli syndrome type 2, specialists should consider the need for chemotherapy and proceed with bone marrow transplantation.

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Diet

No special diet is recommended for patients with Griscelli syndrome (GS).

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Activity

Because patients with Griscelli syndrome (GS) types 1 and 2 can have severe neurologic and immunologic problems, their activities are usually limited. For patients, avoiding interactions that expose them to infections is important. Because they can have seizures that are difficult to control, they must be actively monitored.

Patients with Griscelli syndrome type 3 have normal activity and no complications.

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Prevention

Morphologic examination of peripheral blood or cultured amniotic and chorionic villi cells can help in prenatal diagnosis of Griscelli syndrome (GS).

Prenatal diagnosis of Griscelli syndrome has been accomplished by examination of hair from a biopsy sample of the fetal scalp obtained at 21 weeks of gestation. A fetus that had such a biopsy was aborted. These results were confirmed by a postabortion examination of the fetus revealing silvery hair and characteristic microscopic findings.

With cloning of the Griscelli syndrome genes, direct mutation-based carrier detection and prenatal diagnosis is possible in families. In addition, given the proximity of the two genes responsible for Griscelli syndrome types 1 and. 2, polymorphic markers linked to the Griscelli syndrome locus in the band 15q21 region can be used for identifying the presence of the gene, even if the precise mutation has not yet been identified in a family.

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Long-Term Monitoring

Because patients can have seizures and HS, they must be carefully monitored by their caregivers.

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