Cover Image

A case of Type 2 GRISCELLI SYNDROME with HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS

SUGANTHI T THIRUMALAIVELU

Abstract


We report a case, a 2 months old male child who presented with fever, letharginess,
abdominal distension having silvery gray hairs of eye brow, eyelash scalp. Clinical features
investigations revealed hemophagocytic lymphohistiocytosis. Hair shaft examination revealed
irregular large clumps of melanin pigment aggregations. He was diagnosed as a case of Type 2
Griscelli Syndrome with Hemophagocytic Lymphohistiocytosis. Griscelli syndrome is a rare inherited
disorder that was originally described in 1978. So far, about 90 cases have been reported worldwide.


Full Text:

PDF

References


Noah S Scheinfeld, Dirk M Elston; GriscelliSyndrome ,emedicine.medscape/article 1069442.

Nelson Textbook of Pediatrics,19thEdition, Robert M. Kliegman, Bonita F. Stanton, Joseph W. St.

Geme III,Nina F. Schor,Richard E. Behrman; 1776.

Griscelli C, Prunieras M. Pigment dilution and immunodeficiency: a new syndrome. Int J Dermatol.

Dec 1978;17(10):788-91.

Aslan D, Sari S, Derinoz O, Dalgic B. Griscelli syndrome: description of a case with Rab27A

mutation. PediatrHematolOncol. Apr-May 2006;23(3):255-61.

Bahadoran P, Busca R, Chiaverini C, et al. Characterization of the molecular defects in Rab27a,

caused by RAB27A missense mutations found in patients with Griscelli syndrome. J Biol Chem. Mar

2003;278(13):11386-92.


Refbacks

  • There are currently no refbacks.


Creative Commons License
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.

An initiative of The Tamil Nadu Dr M.G.R. Medical University