An 8-month-old boy of Ashkenazi Jewish descent with no known medical history presented to the emergency department for evaluation of an enlarged abdomen. Further history revealed that he also had difficulties with feeding and failure to gain weight and grow at the expected rate. Developmentally, he no longer smiled at his parents or was able to crawl or sit without support. On general physical examination, he had significant hepatosplenomegaly, diffuse axial hypotonia, and diminished reflexes throughout. On ophthalmic examination, he had trouble with fixation and following, as well as sluggish pupillary response to light in both eyes. Optokinetic nystagmus was intact. Slit-lamp examination revealed diffuse stromal corneal opacification and brown granular discoloration of the anterior lens capsules in both eyes. The fundi showed a dark gray fovea, which was surrounded by a concentric white retinal opacity with an indistinct outer border (Figure 1). The optic disc appeared normal and well vascularized.
What's Your Diagnosis?
For the correct answer, see page 291.
The answer for What's Your Diagnosis? is Niemann-Pick disease, type A.
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- Niemann-Pick Disease, Type A. Accessed July 20, 2020. https://www.omim.org/entry/257200?search=nieman-pick+disease
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