Griscelli syndrome: Report of Three Cases

Abstract

The clinical features of three children with Griscelli syndrome and autopsy findings of two are presented. The patients were 5 years, 9 months, and 3 months old, respectively. Clinical features included partial albinism, hepatosplenomegaly, and various neurological symptoms. Light and electron microscopic studies of the skin were compatible with Griscelli syndrome. Postmortem examination of the viscera and central nervous system revealed lymphohistiocytic infiltration with erythrophagocytosis. Bilateral diffuse involvement of the central nervous system, cranial nerve, and spinal cord was detected in both cases.

Griscelli syndrome: Report of a case and review of the literature

“…Patients with Griscelli syndrome generally show normal percentages of peripheral lymphocytes. Decreased numbers of B and T cells have also been reported 5 . The present patient had normal percentages of B and T cells.…”

“…The present patient had normal percentages of B and T cells. Immunoglobulin levels may be decreased, 9 increased 5 or may be normal, 3 as in our patient. Lymphocyte proliferation responses to mitogens are usually intact in Griscelli syndrome 2 .…”

“…Griscelli syndrome is most commonly diagnosed between the ages of 4 months and 7 years 2,4 . So far, only three cases younger than 4 months of age have been described in the literature 5,9,10 . Our patient is one of the youngest patients to be diagnosed with Griscelli syndrome.…”

“…Central nervous system involvement has also been described in most patients 3 . Clinical onset usually occurs between 4 months and 7 years of age 1–5 . In the present study, we report on a 6‐week‐old Turkish boy with Griscelli syndrome.…”

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

“…GD patients can enter the accelerated phase at any age and this is mostly responsible for the fatal outcome in patients, 20-50% of whom also have neurological involvement. [7][8][9] Hematopoietic stem cell transplantation seems to be effective in GD with neurological involvement due to AP. Mouse studies with dilute mutation (Myosin-Va deficiency) which is equivalent to GD in humans, show that myosin-Va is involved in the transport of melanosomes in melanocytes and smooth endoplasmic reticulum in cerebellar Purkinje cells.…”