A Rare Genetic Condition. Can you identify the features labe
Devi Bavishi
A Rare Genetic Condition. Can you identify the features labelled on the Xray?
--- A 4 year old female came to opd, with complaints of skeletal deformity and joint stiffness.
--- The birth was uneventful and the patient was normal at birth. On enquiry, mental retardation and developmental delay was noted. On systemic examination, hepatosplenomegaly was found to be grade 3. No H/O of corneal clouding and deafness as measured by PTA.
She also has a male sibling of one year of age complaining of only skeletal deformities.
--- There was no particular family history of any genetic condition. This points to some autosomal recessive condition.
--- Xray pointed to a lysosomal storage disease, but some clinical findings were inconsistent with the Xray results.
--- Hence, urinary assay of dermatan sulphate and heparan sulphate was done.

Identity the typical Xray findings from the images below.
Can you guess the probable diagnosis?
What is the treatment?
D●●i B●●●●●i and 7 others like this3 shares
Like
Comment
Share
D●●i B●●●●●i
D●●i B●●●●●i General Medicine
The primary diagnosis was given as Hurler's Syndrome
Nov 20, 2016Like
Dr. R●●●●●t A●●●●●●●i
Dr. R●●●●●t A●●●●●●●i Paediatrics
Hurler Syndrom
Mar 19, 2017Like
D●●i B●●●●●i
D●●i B●●●●●i General Medicine
Yes Sir
Mar 27, 2017Like