A 5-year-old boy has peculiar facial features, enlarged head, hepatosplenomegaly, protuberant abdomen, breathing difficulty with obstructive sleep apnea, and cardiac valve thickening. What is the likely diagnosis?: (A) Hurler's disease, (B) Hunters disease, (C) Fragile X syndrome, (D) Tay-Sachs disease
Answer is B. Ans. B. Hunter's diseaseHurler syndrome, also called as MPS-IH, is virtually similar to Hunter disease, except few points.Hurler syndromeHunter syndrome* It is known as MPS-IH* It is known as MPS-II* It is autosomal recessive* It is X-linked recessive disorder caused by deficiency of Iduronate 2-sulfatase (IDS)* Seen in both sexes* Exclusively seen in boys* Most commonly seen between 6 months and 2 years * It has severe intellectual disability and is severe with fatality by 10 years age* It is mild, presents in first decade between 2 and 4 years with coarse features, short stature* Corneal clouding: Present* Corneal clouding: AbsentCommon features seen in both which develop as age progresses:* Hepatosplenomegaly* Obstructive sleep apnea with a large tongue* Prominent forehead with macrocephaly* Coarse facial features* Valvular heart disease, including regurgitation. Calcifications may also be seen* Limited language skills* Leucocyte inclusions* Mucopolysaccharidosis* Short stature* Dysostosis multiplex* Thick ribs and ovoid vertebral bodies (earliest signs)* Since this is a male child aged 5 years and has no feature suggestive of corneal clouding or severe mental disability, diagnosis is more likely Hunter syndrome.