| Sub-title | |
| Authors | Marthese Ellul MD, MRCPCH (UK) V Calvagna |
| Abstract | Griscelli syndrome was first described by Griscelli and Siccardi in 1978 in a hospital in Paris. It is a rare autosomal recessive disorder resulting in pigmentary dilution of the skin and hair, presence of large clumps of pigment in hair shafts and an accumulation of melanosomes in melanocytes. It results in silver-grey hair along with variable cellular immunodeficiency or severe neurological impairment or both.The condition is rare in all countries and up to January 2003 only 60 cases had been described in the world medical literature 2. In most cases diagnosis occurs between the ages of 4 months to 7 years. The boy discussed here had silvery hair, eyebrows and eyelashes and was admitted at the age of five months to hospital with fever, hepatosplenomegaly and pancytopaenia. |
Published in: | |
| Journal | Malta Medical Journal |
| Volume | 18 Issue 02 |
| Pages | 21 - 24 |
| Date | |
| Link to journal | |
| Key words | case report, paediatrics, griscelli syndrome |