GM1
gangliosidosis is an autosomal recessive lysosomal storage disorder
characterized by the generalized accumulation of GM1 ganglioside,
oligosaccharides, and the mucopolysaccharidekeratan sulfate (and their
derivatives). Deficiency of the lysosomal hydrolase, acid β-galactosidase,
causes GM1 gangliosidosis . GM1 gangliosidosis is a rare disorder, and theestimated incidence is 1:100,000-200,000 live births. GM1 gangliosidosis is
found in all races, although specific alleles can be identified in certain
ethnic groups. A high frequency of GM1 gangliosidosis has been reported from
Southern Brazil, and a large number of Japanese patients with the adult form
have been reported. All 3 types of GM1 gangliosidosis are inherited as
autosomal recessive traits and have equal sex distributions.
 |
Case Report: 5
years old boy with normal birth history born to a nonconsanginous parents,
presented with mild developmental delay, gait difficulties and stiffness of
limbs since 4 year of age. Initially parents noticed child had tiptoe walking,
later he had stiffness of both upper and lower limbs which is gradually
progressive. Child is still able to walk but unable to run. There is history of
febrile seizures at 1.5 year of age. Younger sibling also having similar
complaints.
On
examination: Boy is alert, cooperative GPE revealed, Coarse facial features,
proptosis, prominent forehead, tented upper lip, hepatosplenomegaly, melanotic
patches over back, elbow, finger & hamstrings contracture, protrubrent
abdomen with umbilical hernia, brisk reflexes, power 5/5 and spastic gait. Investigations:
CBC showed normocytic hypochromic with mild relative monocytosis, LFT’ &
RFT’s were normal, Urine test positive for MPS, Serum Hexosaminidase. A enzyme
levels raised above normal limits, Aryl sulfatase negative, Beta galactosidase
enzyme levels were reduced. Read more..............
No comments:
Post a Comment