GRISCELLI SYNDROME A CASE REPORT

Griscelli syndrome is a rare autosomal recessive disorder characterized by partial albinism with variable immunodeficiency. Silvery grey hair with large, clumped melanosomes on microscopy of hair shafts is diagnostic. A 5 month old male child presented with complaints of fever,refusal of feeds,convulsions, jaundice, malena of 2 days duration and progressive abdominal distension for the past 4 months.3 elder siblings had succumbed to similar illness. Examination revealed pallor, icterus,fair skin, silvery hair over scalp, eyebrows and eyelashes, distended abdomen with dilated veins and hepatosplenomegaly. Other systems were normal. A provisional diagnosis of Silver hair syndrome was made and investigated.The hemoglobin was 6gmdl, total leucocyte count 3200 c e l l s m m 3 w i t h p o l y m o r p h s 34,lymphocytes 63,oesinophils 2 and monocytes 1.Platelets count was 1.4 lakhsmm3.Peripheral smear showed microcytic hypochromic anaemia, large intracytoplasmic granules were not seen in leucocytes(presence of intracytoplasmic granules in leucocytes is diagnostic of Chediak Higashi syndrome) . Serum bilirubin was 5mgdl,Serum proteins 3gmdl,alkaline phosphatase 664 UL, GGT 488 IUL, prothrombin time was 58 seconds and APTT 1 min 28 seconds. Lipid profile revealed hypertriglyceridemia- 650mgdl. Chest X ray and ECHO were normal. Ultrasonogram of abdomen showed hepatosplenomegaly with thin rim of fluid in hepatorenal pouch. Blood cultures were sterile, mantoux test, urine screening and viral markers were negative. Bone marrow aspiration showed hypocellularity. Light microscopic examination of hair revealed uneven aggregations of large pigment granules and skin biopsy showed increased pigment in the basal skin layer containing melanocytes with poor pigmentation of adjacent keratinocytes.MRI brain showed T2hyperintensities in the periventricular white matter, peritrigonal region and optic radiation.EEG was abnormal.The child was treated with antibiotics, blood components and anticonvulsants. The childs general condition deteriorated with worsening of jaundice,progressive hepatosplenomegaly , bleeding manifestations and succumbed An Initiative of The Tamil Nadu Dr. M.G.R. Medical University University Journal of Medicine and Medical Sciences to pulmonary haemorrhage after a month. Liver and splenic biopsy done after death revealed inflammation and early cirrhotic changes in the liver and haemorrhagic areas in the spleen.Bone marrow transplant is the only hope for cure when performed before the development of accelerated phase.Induction of remission with high dose methylprednisolone,etoposide,intrathecal methotrexate, cytosine arabinoside and prednisolone can also be tried.