J. Stegmann (Hamburg)  

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Syndromes  

congenital  

Clinically, this patient presented to us with typical signs of the Apert syndrome. Previous patient history included cranial stenosis surgery.

Presently, the patient was presented to us with cephalgia for further diagnostics with MRI. No previous MRI examinations were carried out.  

Congenital syndrome with acrosynostosis and craniostenosis.  

<- view MRI 1

MRI 1: FLAIR, sagittal: Relatively small frontal lobe in the sense of a skull deformation. Obvious increase in signal in the cerebellar cortex.





<- view MRI 2

MRI 2: FLAIR, transversal: This basal slice shows the increase of signal in the cerebellar cortex predominantly basally located, but not in the white matter. Also, the medulla seems unremarkable. A certain spatial change (common after ischemia) is not seen.





<- view MRI 3

MRI 3: IR-T1 sagittal: This image is not exactly in the median line, a lack of a corpus callosum is not seen in this child. Even in the T1-weighted image, one can see the signal changes (dark) below the cerebellar cortex.





<- view MRI 4

MRI 4: T1 sagittal after contrast application: The same slice as in IR-T1 sagittal with contrast media shows no enhancement.





<- view MRI 5

MRI 5: coronal T2: This coronal image shows the increase in signals the best. Furthermore, the cerebral fluid and it's space is seen around the cerebellum - therefore, no proof of stenosis.





<- view MRI 6

MRI 6: coronal T2: This image is located further frontally and shows concurrent (which has also been described in literature) changes in
Apert Syndrome, particularly the incomplete folding nof the hippocampus with temporal widening of the ventricles (right more than left, here only a thickening of the edge).





<- view MRI 7

MRI 7: transversal T2: This basal image shows the large surrounding subarachnoid space. No changes in signal of the medulla.


 

Total constellation (Consens)  

- Pressure damage of the cerebellar tonsils in the course of the craniostenosis oreceeding surgery
- Perfusion deficits with gliosis in the PICA-supplying regions
- ???  

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This case should be seen more as a question and discussion case. Who has seen such cerebellar changes in children with Apert syndrome? Who can explain this? Which other differential diagnoses would be fitting for this case?

The child will be called back to us for follow up in 6 months.  

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1. Medline:
Barkovich, AJ
Pediatric Neuroimaging, 3rd ed., Kap. 5, S. 363 ff
Lippincott Williams & Wilkins  

Apert syndrome, cerebellar changes, Apert, cranial stenosis, congenital acrosynostosis, craniostenosis, child, childhood, pediatric radiology  

J Stegmann. Apert syndrome with cerebellar changes. PedRad [serial online] vol 2, no. 11.
URL: www.PedRad.info/?search=20021103134022