Griscelli Syndrome Follow-up

Updated: Jan 19, 2016
  • Author: Noah S Scheinfeld, JD, MD, FAAD; Chief Editor: Dirk M Elston, MD  more...
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Follow-up

Further Outpatient Care

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

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Further Inpatient Care

Patients must be aggressively supported and monitored when experiencing hemophagocytic syndrome (HS). Care can require antibiotics and systemic support. Patients who have seizures must be monitored and positioned accordingly.

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Inpatient & Outpatient Medications

Patients with Griscelli syndrome can be given antibiotics if they have HS. Seizures have not been reported to be controlled by anticonvulsants. Immunosuppressive medications are given in preparation for bone marrow transplants.

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Deterrence/Prevention

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

Prenatal diagnosis of Griscelli syndrome has been accomplished by examination of hair from a biopsy sample of 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 currently appears possible in families with defined MYO5A or RAB27A gene mutations. In addition, given the proximity of the 2 genes responsible for Griscelli syndrome, 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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Complications

Patients with Griscelli syndrome can have HS; infections; and neurologic, immunologic, and bleeding problems. Köse et al [48] noted the development of in situ melanoma after allogeneic bone marrow transplantation in a person with Griscelli syndrome type 2.

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Prognosis

The prognosis for long-term survival of patients with Griscelli syndrome is relatively poor. In the form caused by the RAB27A defect, Griscelli syndrome is usually rapidly fatal within 1-4 years without treatment at onset of an accelerated phase.

The presence of cutaneous granulomas aids in detection of Griscelli syndrome, and it portends a poor prognosis with systemic involvement. [49]

Without bone marrow transplantation, the prognosis for this condition is dismal. Some patients die after transplantation, and some patients have had lasting remissions. The mean patient age at the time of death is 5 years.

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Patient Education

Parents must understand that their children need aggressive care and that they can have additional children who will have Griscelli syndrome. Parents also must understand the need for a bone marrow transplant and the complications of the procedure. Parents must also understand the dismal prognosis of this condition without transplantation and the risks of bone marrow transplantation.

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