A 5-year-old boy with developmental delay is brought to the office due to difficulty "seeing the board" at school. Examination shows a boy with a tall, thin habitus with elongated limbs. Funduscopy shows bilateral lens subluxation. Four years later, the patient dies suddenly of a massive cerebrovascular accident. Autopsy shows middle cerebral artery thrombosis and old renal infarcts. His parents wish to know if anything could have been done to have prevented his death. Which of the following would have been the most appropriate supplementation for this patient?

Question

A 5-year-old boy with developmental delay is brought to the office due to difficulty "seeing the board" at school.  Examination shows a boy with a tall, thin habitus with elongated limbs.  Funduscopy shows bilateral lens subluxation.  Four years later, the patient dies suddenly of a massive cerebrovascular accident.  Autopsy shows middle cerebral artery thrombosis and old renal infarcts.  His parents wish to know if anything could have been done to have prevented his death.  Which of the following would have been the most appropriate supplementation for this patient?

Quizplus · Accepted Answer

Eductional Objective: Homocystinuria is most commonly caused by cystathionine synthase deficiency.  Affected individuals have marfanoid habitus, ectopia lentis, and developmental delay.  Significant morbidity and mortality are due primarily to thromboembolism.  Many patients with homocystinuria respond dramatically to pyridoxine (vitamin B6) supplementation.

A 5-Year-Old Boy with Developmental Delay Is Brought to the Office