Progressive cerebral atrophy: pediatric

Case contributed by Dr Ian Bickle


Three year-old child. Three MRI studies separated in time.

Patient Data

Age: 3
Gender: Female

First scan aged 1 year and 7 months. CI: Global developmental delay. Hyperflexia and hypertonia

Normal intracranial appearances.

The radial width of the temporal horns is less than 2mm.


2nd scan aged 2 years and 2 months. CI: Status epilepticus. Abnormal movements.

The cerebral sulci are very apparent comparative to the prior MR.

The temporal horn radial width has increased from normal 1mm to abnormal 4mm since the prior MR.

The posterior fossa and midbrain remain normal in volume.


3rd scan aged 3 years and 8 months. CI: Status epilepticus and breakthrough seizures. Optic atrophy. Global development delay.

The degree of cerebral atrophy has progressed yet further since the fairly recent MR.

Diffuse ill-defined white matter change in the left temporoparietal region.

Posterior fossa remains normal in appearance.

Case Discussion

This case didn't result in a definitive specific diagnosis despite extensive radiological and laboratory follow up.   Genetic testing was negative.

The case is a good example of interval imaging - this is a rapidly progressive process.

The appearances suggest a infantile neurodegenerative disease.

This case lies with a very small subspecialist domain of pediatric neurology.

The moral of the story is that imaging cannot always answer everything.

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Case information

rID: 52638
Published: 22nd Apr 2017
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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