Charge's syndrome (MR).

PROTOCOL:

T2W – Sagittal & axial scans

T1W – Axial scans

FLAIR – Coronal scans

T2FFE (Gradient) – Axial scans

3D TOF MR angiography of the circle of Willis vessels and MIP reconstruction.

FINDINGS:

-Revealed:

·        Bilateral coloboma of both eye globes.

·        Fluid retention in both nasal air ways giving impression of obstruction or small sized posterior choanal openings.

-Brain Parenchyma shows normal grey white matter differentiation and signal intensities.  No focal mass lesion is seen.

-Lateral and third ventricles are normal in size and position. Septum is in midline.  There is no midline shift.

-Basal cisterns, cortical sulci and gyri are normal in appearance.

-Sella is normal in appearance.

-Brain stem and cerebellum show normal signal intensities. 

-Fourth ventricle is normal in size and is midline in position.

OPINION:

·        Presence of bilateral coloboma and posterior choanal malformation with fluid retention give impression of Charge’s syndrome; yet full clinical correlation is essential.

·        The above mentioned MR signs are from the major features of this syndrome; yet there are also cranial nerve abnormalities and characteristic auditory or auricular anomalies which cannot be detected by this test.

Reference

Reported By : DR.MOHAMMED MOHYELDIN

                          Consultant-Radiologist