[Cavum vergae, cyst of cavum septi pellucidi, mega cisterna magna, and general fibrosis syndrome].
One family of 17 cases of general fibrosis syndrome was reported. Four out of five patients examined with CT and/or MRI revealed cavum vergae or cyst of the cavum septi pellucidi or mega cisterna magna, which were characterized by existing on the midline of the brain. The patient with cavum vergae had also platybasia. In one patient, surgical correction of vertical deviation and blepharoptosis of both eyes was performed. There was abnormal insertion of the superior and inferior rectus muscles in posterior and nasal direction, and adhesion of the superior oblique muscle to the superior rectus muscle at the point of it's insertion was found in both eyes. Histopathological findings of the extraocular muscles of two patients showed mixture of relatively normal muscle tissues and vast amounts of collagen fibers. Electron microscopically many glycogen granules were found in muscle fibers. From these findings, this syndrome may be based on failure in development and differentiation.
Nakajima
T
T
Department of Ophthalmology, Hamamatsu University School of Medicine, Japan.
Namishima
S
S
Takahashi
K
K
Aonuma
H
H
Nitta
C
C
Abe
Y
Y
D000328:Adult; D001763:Blepharoptosis / Q000235:genetics; D001921:Brain / Q000002:abnormalities*; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D002552:Cerebral Ventricles; D002648:Child; D002946:Cisterna Magna / Q000002:abnormalities*; D003560:Cysts / Q000235:genetics* / Q000473:pathology; D005260:Female; D005355:Fibrosis; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009801:Oculomotor Muscles / Q000002:abnormalities; D013577:Syndrome; D014057:Tomography, X-Ray Computed