caa a22 4500 465767230 CHVBK 20180323111917.0 cr unu---uuuuu 170327e19900101xx s 000 0 eng 10.1007/BF00308719 doi (NATIONALLICENCE)springer-10.1007/BF00308719 Aprosencephaly: Review of the literature and report of a case with cerebellar hypoplasia, pigmented epithelial cyst and Rathke's cleft cyst [Elektronische Daten] [T. Kim, S. Cho, D. Dickson] Summary: Aprosencephaly is a very rare brain malformation that occurs in isolated and sydromatic forms. The syndromatic form has been named "XK-aprosencephaly”, and is characterized by near total absence of prosencephalon with a midline oculofacial defect similar to the most severe forms of holoprosencephaly, in association with limb and genital anomalies. We present a case of syndromatic aprosencephaly with absence of thumb and abnormal external genitalia. A previously undescribed finding was a Tathke's cleft cyst. Two other cystic structure were also identified — an ependymal cyst, which may represent a dorsal cyst as in holoprosencephaly, and a pigmented epithelial cyst, which may represent a rudimentary eye. Additional findings were extensive calcific vasculopathy in the rudimentary prosencephalon, absence of pituitary gland, forking of the aqueduct of Sylvius and marked cerebellar hypoplasia. Since calcific vasculopathy is a common accompaniment of other inflammatory diseases of the central nervous system, its presence in this case suggests that destructive processes may be involved in the genesis of some cases of aprosencephaly. Springer-Verlag, 1990 Aprosencephaly nationallicence Glio-ependymal cyst nationallicence Pigmented epithelial cyst nationallicence Rathke's cleft cyst nationallicence Kim T. Department of Pathology (Neuropathology), Albert Einstein College of Medicine, 1300 Morris Park Avenue, 10461, Bronx, NY, USA aut Cho S. Department of Pathology (Neuropathology), Albert Einstein College of Medicine, 1300 Morris Park Avenue, 10461, Bronx, NY, USA aut Dickson D. Department of Pathology (Neuropathology), Albert Einstein College of Medicine, 1300 Morris Park Avenue, 10461, Bronx, NY, USA aut Acta Neuropathologica Springer-Verlag 79/4(1990-01-01), 424-431 0001-6322 79:4<424 1990 79 401 https://doi.org/10.1007/BF00308719 text/html Onlinezugriff via DOI 1 review-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00308719 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kim T. Department of Pathology (Neuropathology), Albert Einstein College of Medicine, 1300 Morris Park Avenue, 10461, Bronx, NY, USA aut NATIONALLICENCE 700 1- Cho S. Department of Pathology (Neuropathology), Albert Einstein College of Medicine, 1300 Morris Park Avenue, 10461, Bronx, NY, USA aut NATIONALLICENCE 700 1- Dickson D. Department of Pathology (Neuropathology), Albert Einstein College of Medicine, 1300 Morris Park Avenue, 10461, Bronx, NY, USA aut NATIONALLICENCE 773 0- Acta Neuropathologica Springer-Verlag 79/4(1990-01-01), 424-431 0001-6322 79:4<424 1990 79 401 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer