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[4] Mathews KD, in 1989 also reported two cases of cerebellar hypoplasia in a family with unaffected parents suggestive of autosomal recessive inheritance. [10] The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging with frequent reporting of ...
Sensenbrenner syndrome (OMIM #218330) is a rare (less than 20 cases reported by 2010) multisystem disease first described by Judith A. Sensenbrenner in 1975. [1] It is inherited in an autosomal recessive fashion, and a number of genes appear to be responsible.
The cisterna magna (posterior cerebellomedullary cistern, [1] or cerebellomedullary cistern [2] [3]) is the largest of the subarachnoid cisterns.It occupies the space created by the angle between the caudal/inferior surface of the cerebellum, and the dorsal/posterior surface of the medulla oblongata (it is created by the arachnoidea that bridges this angle [3]).
Cranial dysplasias associated with 3C syndrome are also reflected in the brain. Besides the cerebellar hypoplasia, cysts are commonly found in the posterior cranial fossa, the ventricles and the cisterna magna are dilated/enlarged, and Dandy–Walker malformation is present. These are reflected in the developmental delays typical of the disease.
The main distinguishing feature is "shell teeth", a term used to describe the unique appearance of the baby (primary) teeth; the primary teeth have multiple pulp exposures and radiographically appear hollow as the dentine layer is thin (dentine hypotrophy) and the pulp chamber is very large. [2] [3] [4] [14]
Mega cisterna magna is a condition in which the cisterna magna, the subarachnoid cistern below the fourth ventricle, is enlarged. It has been proposed to be due to a delayed rupture of Blake's pouch rather than a failed rupture. [9] In mega cisterna magna, unlike in DWM: [9] The cerebellum is not usually hypoplastic.
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It allows the flow of cerebrospinal fluid (CSF) from the fourth ventricle into the cisterna magna. [2] [3] The other openings of the fourth ventricle are the lateral apertures - one on either side. [4] The median aperture varies in size but accounts for most of the outflow of CSF from the fourth ventricle. [1]