Question:
An infant presents with intractable vomiting and elevated blood ammonia. Fundus examination shows which of the following findings?
An infant presents with intractable vomiting and elevated blood ammonia. Fundus examination shows which of the following findings?
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Macular Cherry-Red Spot Mnemonic: "Cherry Trees Never Grow Tall In Sand" $\rightarrow$
$\bullet$ Central retinal artery occlusion
$\bullet$ Tay-Sachs disease
$\bullet$ Niemann-Pick disease
$\bullet$ GM1 gangliosidosis
$\bullet$ Sandhoff disease Sialidosis
$\bullet$ Central retinal artery occlusion
$\bullet$ Tay-Sachs disease
$\bullet$ Niemann-Pick disease
$\bullet$ GM1 gangliosidosis
$\bullet$ Sandhoff disease Sialidosis
Updated On: Sep 3, 2026
- Cherry red spot
- Angioma
- Waxy pallor
- Foveal dot
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The Correct Option is A
Solution and Explanation
Concept:
Inborn errors of metabolism presenting in infancy with metabolic decompensation (vomiting, lethargy, encephalopathy, hyperammonemia, and metabolic acidosis) encompass organic acidemias, urea cycle defects, and lysosomal storage disorders.
The presence of distinct ophthalmologic abnormalities, particularly a macular "cherry-red spot", narrows the diagnostic differentials among neurometabolic storage disorders.
Explanation:
• A cherry-red spot at the macula occurs when lipid, ganglioside, or complex carbohydrate storage materials accumulate pathologically within the multi-layered retinal ganglion cells surrounding the fovea.
• Because the central foveola is anatomically devoid of ganglion cell layers, the underlying highly vascularized choroid shines through as a striking bright red circle surrounded by a pale, opacified, lipid-laden retina.
• Conditions classically presenting with a macular cherry-red spot include:
1. Sphingolipidoses (Tay-Sachs disease, Sandhoff disease, Niemann-Pick disease type A)
2. Generalized GM1 gangliosidosis (which can present with severe neurovisceral storage, liver dysfunction, vomiting, and secondary hyperammonemia)
3. Sialidosis and Farber disease
• While primary urea cycle disorders do not show a cherry-red spot, multiorgan storage diseases and organic acidemias associated with secondary hyperammonemia and metabolic crisis feature this distinctive fundoscopic hallmark.
Final Answer:
The characteristic fundus examination finding associated with metabolic neurometabolic storage disease is a cherry red spot.
Inborn errors of metabolism presenting in infancy with metabolic decompensation (vomiting, lethargy, encephalopathy, hyperammonemia, and metabolic acidosis) encompass organic acidemias, urea cycle defects, and lysosomal storage disorders.
The presence of distinct ophthalmologic abnormalities, particularly a macular "cherry-red spot", narrows the diagnostic differentials among neurometabolic storage disorders.
Explanation:
• A cherry-red spot at the macula occurs when lipid, ganglioside, or complex carbohydrate storage materials accumulate pathologically within the multi-layered retinal ganglion cells surrounding the fovea.
• Because the central foveola is anatomically devoid of ganglion cell layers, the underlying highly vascularized choroid shines through as a striking bright red circle surrounded by a pale, opacified, lipid-laden retina.
• Conditions classically presenting with a macular cherry-red spot include:
1. Sphingolipidoses (Tay-Sachs disease, Sandhoff disease, Niemann-Pick disease type A)
2. Generalized GM1 gangliosidosis (which can present with severe neurovisceral storage, liver dysfunction, vomiting, and secondary hyperammonemia)
3. Sialidosis and Farber disease
• While primary urea cycle disorders do not show a cherry-red spot, multiorgan storage diseases and organic acidemias associated with secondary hyperammonemia and metabolic crisis feature this distinctive fundoscopic hallmark.
Final Answer:
The characteristic fundus examination finding associated with metabolic neurometabolic storage disease is a cherry red spot.
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