Match the following classic clinical presentations with the most likely underlying pediatric genetic or metabolic disorder.
- Phenylketonuria (PKU)Child with developmental delay, fair pigmentation, and a musty body odor
- Tay-Sachs diseaseInfant with loss of motor milestones, a cherry-red macula, and an exaggerated startle response, without hepatosplenomegaly
- Niemann-Pick diseaseInfant with progressive loss of motor milestones, a cherry-red macula, and hepatosplenomegaly
- GalactosemiaInfant with failure to thrive, bilateral cataracts, jaundice, and hepatomegaly shortly after starting milk feedings
Answer
Phenylketonuria matches with fair pigmentation and a musty odor; Tay-Sachs disease matches with a cherry-red macula and no hepatosplenomegaly; Niemann-Pick disease matches with a cherry-red macula and hepatosplenomegaly; Galactosemia matches with cataracts and liver failure upon milk exposure.
Matching these classic clinical vignettes to the correct metabolic disorder requires recognizing key differentiating physical findings. Tay-Sachs and Niemann-Pick both have cherry-red maculas, but Niemann-Pick involves hepatosplenomegaly. PKU is characterized by fair skin and a musty odor, while galactosemia uniquely presents with early neonatal cataracts and liver failure upon milk exposure.
Step-by-Step Solution
Key Concept
Clinical differentiation of classic pediatric metabolic and genetic disorders based on distinct physical examination findings.