ISSN - 0973-0958

Pediatric Oncall Journal View Article

Silvery Hair with Immunodeficiency: A Comparative clinical brief of Griscelli Syndrome Type II and Chediak Higashi Syndrome
Sunil Jondhale1, Tushar Jagzape2, Anil Kumar Goel3, Kavita Tiwari4, Tripty Singh1, Manas Ranjan Sahoo1.
1Associate Professor, Pediatrics, All India Institute of Medical Sciences (AIIMS), Raipur, Chhattisgarh, India,
2Additional Professor, Pediatrics, All India Institute of Medical Sciences (AIIMS), Raipur, Chhattisgarh, India,
3Professor, Pediatrics, All India Institute of Medical Sciences (AIIMS), Raipur, Chhattisgarh, India,
4Senior Resident, Pediatrics, All India Institute of Medical Sciences (AIIMS), Raipur, Chhattisgarh, India.
Abstract
One of the rare but a common symptom of some genetic diseases presenting in Pediatric age group is silvery hair. These disorders termed as “silvery hair syndrome” consist of Griscelli syndrome (GS), Chediak-Higashi syndrome (CHS), and Elejalde disease. Among these syndromes primary immunodeficiency is present only in CHS and GS type II. CHS which is characterized by severe defect in phagocytic function leading to recurrent infections with pyogenic organism, silver blond hair, partial oculocutaneous albinism, progressive motor or sensory neurologic defects, and bleeding tendencies is a rare autosomal recessive defect. Griscelli syndrome 2 is also a rare disorder with autosomal recessive inheritance associated with dilution of pigments in skin, hair, splenohepatomegaly, immune and neurological dysfunction, and pancytopenia. Because of overlapping clinical presentation, they closely mimic each other. Hence here we are focusing on differentiating these two disorders and highlighting the diagnostic dilemma. We report two cases which were referred to our tertiary care center of central India with varied clinical manifestations and complications, sharing a common feature of silvery hair.

READ FULL TEXT
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License
Disclaimer: The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0