A 6 year old mentally retarded male patient presents with hepatosplenomegaly, coarse facial features, corneal clouding, large tongue, prominent forehead, joint stiffness, short stature and skeletal dysplasia. What is the diagnosis?
Correct Answer: Hurler’s Disease
Description: Mucopolysaccharidosis-I H (Hurler’s Diseases):
Biochemical defect:
Homozygous or double heterozygous nonsense mutations IDUA gene on Chr 4p encoding α-L-Iduronidase.
Clinical features of MPS-I H (Hurler’s Disease):
Progressive disorder with multiple organ and tissue involvement that results in premature death, usually by 10 years of age.
An infant with Hurler’s syndrome appears normal at birth, but inguinal hernias are often present. Diagnosis is usually made between 6 and 24 month of age.
Hepatosplenomegaly, coarse facial features, corneal clouding, large tongue, prominent forhead, joint stiffness, short stature and skeletal dysplasia.
Acute cardiomyopathy has been found in some infants < 1 year of age.
Most patients have recurrent upper respiratory tract and ear infections, noisy breathing and persistent copious nasal discharge.
Valvular heart disease with incompetence, notably of the mitral and aortic valves, regularly develops, as dose coronary artery narrowing.
Obstructive airway disease, notably during sleep, may necessitate trachotomy. Obstructive airway disease, respiratory infection and cardiac complications are the common causes of death.
Reference- Harper’s illustrated biochemistry. 30th edition page no: 179
Category:
Biochemistry
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now