試題詳解

56. A 9-month-old male infant with significant delayed psychomotor development was sent to clinic with the following history: 43 weeks gestation, delayed defecation & prolonged jaundice in neonatal period. PE showed bulky but hypotonic muscles, umblical hernia and large tongue. The most possible diagnosis to consider is？
(A)Congenital muscular dystrophy。
(B)Mucopolysaccharidosis。
(C)Glycogen storage disease。
(D)Hirschsprung disease。
(E)Hypothyroidism。