10 yr old child ...came with .c/o delayed developmental mile stone and ..bluring of vision(graduallly)...approach ...and posibilities.

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CLASSICAL TYPICAL FACIES HURLER SYNDROME Short stature. Coarse facies and enlarged tongue. Corneal clouding. Hearing impairment. Umbilical and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly. Dysostosis multiplex: enlarged skull, enlarged but shortened bones, malformed pelvis, and other skeletal defects. DIFFERENTIAL DIAGNOSIS HUNTER SYNDROME SANDY S DISEASE STORAGE DISORDERS INVESTIGATIONS Urine: raised levels of dermatan sulfate andheparan sulfate .Lymphocytes examined in blood smears may show abnormal cytoplasmic inclusions. Definitive diagnosis is established by alpha-L-iduronidase enzyme assay using artificial substrates in cultured fibroblasts or isolated leukocytes ..Prenatal diagnosis: using cultured amniotic fluid CVS OR AMNIOCENTESIS Assessment of complications will include an echocardiogram and MRI brain scan.In severe cases, radiography of the skeleton (especially the spine) may detect a gibbus deformity of the lower spine.A mild form of dysostosis multiplex may be seen on X-ray.

Very nicely explained@Dr. Ashok Pareek
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Dx : MPS. EYES PIGMENTATION +, BILATERAL CLOUDING OF CORNEA. COARCE FACIES. LOW SET EARS. BEADING RIBS. WIDENING WRIST. SHORT NECK. FEATURES CONSISTENT WITH MPS. D/D : MPS. HYPOTHYROIDISM. RICKETS.

Morquios disease head large ,corneal opacity, enlarged joints X ray skull ,neck lateral view Rule out Rickets , Rx orthopaedic correct ion Watch for aortic regurgitation

Hurler syndrome

Rule out juvineile glaucoma.. Rule out mucopolysaccharidosis

SHORT STATURE DELAYED MILESTONES LE SQIUNT DOWNS LIKE FEATURES TO BE SEEN BY PAEDISTRICIAN AND PAEDIATRIC OPHTHALMOLOGIST

MPS Typical facies, Corneal clouding... Well explained by @Dr. Ashok Pareek sir..

NEEDS COMPLETE AND AND PIST SEGMENT EXAMINSTIONS

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