Gomez-Lopez-Hernandez syndrome
Rhombencephalosynapsis
• Gómez-López-Hernández syndrome - Ganzer Fall bei Radiopaedia
A rare case
of cerebellar fusion ;Gomez- Lopez-Hernandez syndrome. Coronal T2W MR image showing absence of cerebellar vermis (vertical arrow) with transversely oriented cerebellar folia and continuity of the cerebellar white matter across the midline (horizontal arrow) .
A rare case
of cerebellar fusion ;Gomez- Lopez-Hernandez syndrome. Axial T2W MR image showing absence of cerebellar vermis (vertical arrow) with transversely oriented cerebellar folia and continuity of the cerebellar white matter across the midline (horizontal arrow).
A rare case
of cerebellar fusion ;Gomez- Lopez-Hernandez syndrome. Axial T1W MR image showing absence of cerebellar vermis with fusion of middle cerebellar peduncles (vertical arrow) and diamond shaped rostral 4th ventricle (horizontal arrow).
A rare case
of cerebellar fusion ;Gomez- Lopez-Hernandez syndrome. Axial T2W MR image showing partial fusion of thalami(horizontal arrow).
A rare case
of cerebellar fusion ;Gomez- Lopez-Hernandez syndrome. Midline sagittal MR image showing absence of normal foliar pattern of vermis (vertical arrow) with large massa intermedia (horizontal arrow).
Gomez-Lopez-Hernandez syndrome, also known as cerebellotrigeminal-dermal dysplasia, is a rare phakomatosis characterized by rhombencephalosynapsis, parietal-occipital scalp alopecia, brachycephaly, facial malformations and trigeminal anesthesia.
History and etymology
It is named after Manuel Rodríguez Gómez (1928-2006) and Alejandro Lopez-Hernandez.
Siehe auch:
Assoziationen und Differentialdiagnosen zu Gomez-Lopez-Hernandez syndrome: