Progressive cerebellar atrophy

Case contributed by Dr Ian Bickle


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.

Patient Data

Age: 6
Gender: Female

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.

Case Discussion

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?
    • periventricular
    • diffuse
    • subcortical
  • any cerebellar cortex T2 hyperintensity?
  • any basal ganglia involvement
    • calcification
    • atrophy
    • signal change

Even after all the non-imaging investigations a definitive diagnosis was not to date ascertained for this child.

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Case information

rID: 50559
Published: 17th Jan 2017
Last edited: 1st Jul 2017
Inclusion in quiz mode: Included

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