Progressive cerebellar atrophy
Developmental delay. Ataxia. Familial history of development delay issues. No history of prematurity given. Cosanginous parents. 4 children ( this patient the 3rd ) - all have global developmental delay. Elder sister with seizures too who is deceased.
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Performed under GA.
Symmetrical high T2 deep white matter abnormalities surrounding the front and occiptal horns of the lateral ventricles.
Normal myelination. Normal cerebral cortex.
Absent septum pellucidum.
Normal corpus callosum. Mesencephalon and pons normal in appearance and volume.
Marked symmeterical atrophy of the cerebellum with very prominent folia. The cerebellar peduncles are reduced in volume.
Comment: Appearances fit within the childhood cerebellar atrophy catergory of:
Cerebellar atrophy with supratentorial white matter abnormalities
In this case one would wish to consider a mitochondrial disorder, especially in view of the co-asanguinity and the involvement of all 3 siblings with similar symptomatology.
Differential diagnoses includes; Neimann Pick type c and neuronal ceroid lipofuscinosis
With paediatric cerebellar atrophy cases consider the following in reviewing the MRI:
- is it pure cerebellar atrophy?
- any hypomyelination?
- any associated WM abnormality?
- any cerebellar cortex T2 hyperintensity?
- any basal ganglia involvement
- signal change
Even after all the non-imaging investigations a definitive diagnosis was not to date ascertained for this child.
- 1. Al-Maawali A, Blaser S, Yoon G. Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients. Journal of child neurology. 27 (9): 1121-32. doi:10.1177/0883073812448680 - Pubmed
- 2. Poretti A, Wolf NI, Boltshauser E. Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update. Neuropediatrics. 46 (6): 359-70. doi:10.1055/s-0035-1564620 - Pubmed