Chiari 1 malformation and osteopetrosis

Case contributed by Dr Amr Farouk


20 year old patient with diagnosed osteopetrosis presenting with long standing headaches and walking difficulties.

Patient Data

Age: 20 years

Inferior herniation of the cerebellar tonsils through the foramen magnum with compression of the spinal cord against the basilar invaginated odontoid process projecting above the foramen magnum indenting the craniocervical junction of the spinal cord.

Expansion of the spinal cord parenchyma starting just below the foramen magnum and continuing inferiorly to the level of the conus medullaris by heterogeneous fluid signal.

Mild dilatation of the supratentorial ventricular system namely the third ventricle and lateral ventricles is seen. 

Thickened calvarial bones. Enlarged adenoidal tissue

Case Discussion

The constellation of cerebellar tonsil herniation, spinal cord syringohydromyelia,
basilar invagination as well as mild supratentorial hydrocephalus are of a Chiari I malformation. Thickened calvarial bones are attributed to osteopetrosis.

Osteopetrosis and Chiari 1 malformation has been reported in the literature as a rare association 1

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Case information

rID: 48586
Published: 15th Oct 2016
Last edited: 18th Mar 2019
Inclusion in quiz mode: Included

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