GRISCELLI SYNDROME A CASE REPORT
Abstract
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 ymo 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
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