ContentsSynopsisCodesBest TestsReferencesView all Images (2)
Griscelli syndrome
Print
Other Resources UpToDate PubMed

Griscelli syndrome

Print Images (2)
Contributors: Benjamin L. Mazer MD, MBA
Other Resources UpToDate PubMed

Synopsis

Griscelli syndrome is a rare, autosomal recessive syndrome that presents with varying degrees of albinism, immune deficiency, and neurologic abnormalities. Silver-gray hair is the most distinctive physical feature. Severe infections, hemophagocytic syndrome, and developmental delay begin to develop in infancy. It is most common in people of Middle Eastern and Mediterranean descent. There are 3 subtypes of Griscelli syndrome that differ in the underlying genetic mutation and extent of neurologic and immune dysfunction. The immunodeficiency associated with Griscelli syndrome can be treated with bone marrow transplantation. Without transplantation, Griscelli syndrome is predominantly fatal.

For more information on type 1, see OMIM.

For more information on type 2, see OMIM.

For more information on type 3, see OMIM.

Codes

ICD10CM:
E70.8 – Other disorders of aromatic amino-acid metabolism

SNOMEDCT:
37548006 – Hypopigmentation-immunodeficiency disease

Best Tests

Subscription Required

References

Subscription Required

Last Updated: 03/29/2017
Copyright © 2018 VisualDx®. All rights reserved.
Griscelli syndrome
Print 2 Images
View all Images (2)
(with subscription)
Griscelli syndrome (Type 2) : Hepatomegaly, Hypotonia, Silver hair, Splenomegaly, WBC decreased
Copyright © 2018 VisualDx®. All rights reserved.