Achondroplasia

Case contributed by A.Prof Frank Gaillard

Patient Data

Gender: Male
MRI

There is a relatively large cranial vault with small skull base. There is a prominent forehead with depressed nasal bridge. The foramen magnum is narrowed, and there is a cervicomedullary kink. Relative elevation of the brainstem gives rise to a large suprasellar cistern and a vertically-oriented straight sinus.

Case Discussion

This sagittal T1-weighted MR image demonstrates some of the features found in the skull in achondroplasia.

There was moderate enlargement of ventricles and surface CSF spaces consistent with communicating hydrocephalus. CSF flow studies demonstrated flow around the craniocervical junction. MR venography demonstrated restricted flow in the sigmoid sinuses and jugular bulbs, which probably contributed to the hydrocephalus.

Craniocervical junction constriction can give rise to problems in achondroplasia including sleep apneoa, sudden apneoas, sudden death, and myelomalacia. Surgical decompression may be helpful in selected cases.

Image contributed by: Dr Laughlin Dawes

PlayAdd to Share

Case information

rID: 3114
Case created: 22nd May 2008
Last edited: 1st Sep 2015
Inclusion in quiz mode: Included

Updating… Please wait.
Loadinganimation

Alert accept

Error Unable to process the form. Check for errors and try again.

Alert accept Thank you for updating your details.