Printable factfile
Patients have partial pigmentary dilution or albinism with silvery gray hair, frequent infections, neurologic abnormalities. Neurologic symptoms consist of hypotonia, absence of coordinated voluntary movements and severe retarded psychomotor development. Central nervous system disorder is stable and never regresses with time. Hair shafts contain an accumulation of large pigment granules. No immunological abnormalities have been observed. Patients never develop an accelerated phase. At computer tomograph (CT) scanning and magnetic resonance imaging (MRI) patients have isolated congenital cerebellar atrophy.
Diagnosis
Diagnostic recommendations
Additional Information
Diagnostic laboratories
Clinical:
Genetic:
Therapeutic options
- Bone marrow transplantation. The severe neurological impairment and retarded psychomotor development do not improve with time. Recurrent infections can be improved with positional changes and antibiotic treatment.
- Griscelli Syndrome, eMedicine
Research programs, clinical trials
- European Initiative for Primary Immunodeficiencies.
- Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies, Clinical.Trials.gov
- Study of Chediak-Higashi Syndrome, Clinical.Trials.gov
- Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders, Clinical.Trials.gov
- Learning and Behavior Problems in Children with Chronic Granulomatous Disease and Related Disorders, Clinical.Trials.gov
- Detection and Characterization of Host Defense Defects, Clinical.Trials.gov