Presentation
Delayed milestones.
Patient Data
Age: 4 years
Gender: Female
From the case:
Hyperdense thalami-perinatal ischemia
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Bilateral thalamic hyperdensity/calcifications.
Cerebral cortical atrophy and ventriculomegaly, mainly along both frontal lobes, more on the left side.
Case Discussion
Bilateral thalamic hyperdensity/calcifications, in this case, would raise the possibility of this differential:
- Krabbe disease
- perinatal profound ischemia
- gangliosidosis
In this case, the patient had a history of severe perinatal hypoxia and neonatal ICU admission which makes the possibility of profound perinatal ischemia more probable than Krabbe disease.
Also, there's cerebral atrophy, evident in the frontal lobes, a sequel of ischemic insult.
Case courtesy of Dr. Mahmoud Yahia
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