An 18-Month-Old Boy Is Being Evaluated for Neurologic Regression

question 148

Multiple Choice

An 18-month-old boy is being evaluated for neurologic regression.  He had a normal neonatal course and early development until age 5 months.  The boy subsequently experienced gradual regression of developmental milestones, and now has inability to sit with support, poor head control, and loss of a social smile.  Weight and height are below the 5^th percentile.  Physical examination shows an enlarged liver and spleen, diminished deep tendon reflexes in all limbs, and hypotonia.  Funduscopic findings are shown in the exhibit.

This patient most likely has an accumulation of which of the following substrates?

• A)Cerebroside sulfate
• B)Galactocerebroside
• C)Globotriaosylceramide
• D)Glucocerebroside
• E)GM2 ganglioside
• F)Sphingomyelin

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Definitions:

Mental Accounting

A concept in behavioral economics that refers to the different values people place on money, based on subjective criteria, affecting economic decision-making.

Confirmation Bias

The tendency to search for, interpret, favor, and recall information in a way that confirms one’s preexisting beliefs or hypotheses, often leading to statistical errors.

Affect Heuristic

A mental shortcut used in decision making and judgement that involves relying on emotions and feelings.