BY DR ANUPAGUIDED BY: DR MANOJ GHODA DR REKHA H BHAVSAR DR ROHIT R MODI DR DEEPA A BANKER DR PALLAVI P DAGLI
A7 years old male childborn out of a nonconsanguinous marriagepresented with thefollowing complaints:
An umbilical hernia since age of 6 months which was gradually increasing in size Noisy breathing/ snoring at night Swelling of small joints of fingers with restricted movements of both wrists and fingers
Coarse facies Umbilical hernia and protuberant abdomen Short spade like handsShort stature
A huge hepatosplenomegaly Systolic murmurCNS: mild delay of milestonesOpthalmologic exam: normal
Chest Xray: scoliosis, oar shaped ribs X ray of the wrist and hand: widening of metaphysis of wrist joints, short and widened phalanges..typical features of dysostosis multiplexa. 2 D echo: moderate MR, mild TR, Mild PAH, borderline LVH bicuspid aortic valve
Special investigations done: Liver biopsy: s/o some storage disorder Urine for GAGs: positive ( type???)
For definitive diagnosis:Enzyme assays on culturefibroblalsts or serum leukocytes
Now that was simple wasn’t it?? A book picture of MUCOPOLYSACCHARIDOSIS!! But what if such was not the case??!!
Very often what we have is only a large spleen!!What to do then?? Lets see!!
To take a detailed clinical history.. Always examine from head to toe.. Do not jump to the spleen directly Even the baseline investigations can give so many clues about the final diagnosis Narrow down to the group of disorders that you are dealing with.