Diagnosis of short stature child with corneal opacity?
Ans. (b) Mucopolysaccharidosis.* Notice the eyes set wide apart, with flattened nose, cloudy cornea, short neck.* The hands are as broad as long with incurved fourth and fifth fingers.* These findings are against diagnosis of cretinism and favour clinical diagnosis as mucopolysaccharidosis though precise diagnosis is based on demonstration of specific enzyme deficiency in leucocytes or cultured fibroblasts.TypeCommon name other namesLocusDeficient enzymeAccumulated productsSymptomsMP S IHHurler syndrome4pl6.3alpha-L-iduronidaseHeparan sulfateMental retardation,MP S IH/SHurler-Scheie syndrome Dermatan sulfatemicrognathia, coarse facial features, macroglossia, retinal degeneration, corneal clouding, cardiomyopathy, hepatosplenomegalyMP S ISScheie syndromeFormerly:Mucopolysaccha- ridosis type VMP S IIHunter syndromeXp28Iduronate sulfataseHeparan sulfate Dermatan sulfateMental retardation (Similar, but milder, symptoms to MPSI). This type exceptionally has X-linked recessive inheritance Image source'. style="font-size: 1.04761904761905em; color: rgba(0, 0, 0, 1); font-family: Times New Roman, Times, serif; margin: 0 0 0 8px; text-indent: 0">
Cretin
Mucopolysaccharidosis
Peroxisomal disorders
Lesch-Nyhan syndrome
Inborn Errors of Metabolism