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?
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.
Hurler's disease
Hunters disease
Fragile X syndrome
Tay-Sachs disease
Genetics And Genetic Disorders