Lysosomal Storage Diseases — MCQs

A child presents with bone pain and hepatosplenomegaly, indicative of Gaucher's disease. A trephine biopsy and aspirate show the following finding. Which of the following is the most likely enzyme deficient in this condition?

Which one of the following diseases is classified as an autosomal dominant disorder?

A patient presents with an X-ray showing cardiomegaly, along with symptoms of hypotonia, macroglossia, hepatomegaly, and floppy baby syndrome. The X ray of the infant is shown below. What is the most likely diagnosis?

Lysosomal transport defect is seen in which of the following conditions?

Which of the following statements about Niemann-Pick disease is false?

A 10-month-old child with coarse facies is referred for developmental delay. On examination, hepatosplenomegaly was noted. WBC N-acetylglucosamine-1-phosphotransferase activity was absent. The X-ray is shown below. What is the diagnosis?

An 8-month-old infant is brought in with poor feeding, lethargy, hypotonia, and hepatomegaly. Labs reveal hypoglycemia and metabolic acidosis. Which condition is most likely?

A 7-month-old boy is brought to the pediatrician by his parents due to progressively worsening weakness for the last three months. The parents also describe the boy as having an exaggerated response when startled as well as diminishing response to visual stimuli. At birth, the boy was healthy and remained as such for the first few months of life. The mother says pregnancy was unremarkable, and the boy was born at 39 weeks with no complications during delivery. He is up to date on his vaccinations. The boy's grandparents immigrated from an eastern European country. Physical examination reveals hyperreflexia. Abdominal examination reveals no abnormalities. On fundoscopy, the following is seen. Which of the following is most likely deficient in this patient?

An 11-year-old boy was brought to the outpatient clinic with intention tremor and poor scholastic performance. His sister has similar complaints. On examination, hepatomegaly is seen. The eye finding is shown in the image. What is the probable diagnosis?

A neonate presents with the clinical features shown in the image below. What is the most likely diagnosis?