Skip to main content

Aprosencephaly: Review of the literature and report of a case with cerebellar hypoplasia, pigmented epithelial cyst and Rathke's cleft cyst


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.

This is a preview of subscription content, access via your institution.


  1. 1.

    Adkins WN, Kaveggia EC (1979) Sporadic case of apparent aprosencephaly. Am J Med Genet 3:311–314

    Google Scholar 

  2. 2.

    Althuler G (1973) Toxoplasmosis as a cause of hydranencephaly. Am J Disc Child 125:251–252

    Google Scholar 

  3. 3.

    Cohen MM (1982) An update on the holoprosencephalic disorders. J Pediatr 101:865–868

    Google Scholar 

  4. 4.

    Crome L, Sylvester PE (1958) Hydranencephaly (hydrencephaly). Arch Dis Child 33:235–245

    Google Scholar 

  5. 5.

    Danner R, Shewmon A, Sherman MP (1985) Seizures in an atelencephalic infant. Is the cortex essential for neonatal seizures? Arch Neurol 42:1014–1016

    Google Scholar 

  6. 6.

    Fawcett DW (1986) A textbook of histology, 11th edn. WB Saunders Philadelphia, pp 913–960

    Google Scholar 

  7. 7.

    Friede RL, Mikolasek D (1978) Postencephalitic porencephaly, hydranencephaly or polymicrogyria. A review. Acta Neuropathol (Berl) 43:161–168

    Google Scholar 

  8. 8.

    Garcia CA, Duncan C (1977) Atelencephalic microcephaly. Dev Med Child Neurol 19:227–232

    Google Scholar 

  9. 9.

    Greene MF, Banacerraf BR, Frigoletto FD Jr (1987) Reliable criteria for the prenatal sonographic diagnosis of alobar holoprosencephaly. Am J Obstet Gynecol 156:687–689

    Google Scholar 

  10. 10.

    Harper C, Hockey A (1983) Proliferative vasculopathy and an hydranencephalic-hydrocephalic syndrome: a neuropathological study of two siblings. Dev Med Child Neurol 25:232–244

    Google Scholar 

  11. 11.

    Iivanainen M, Haltia M, Lydecken K (1977) Atelencephaly. Dev Med Child Neurol 19:663–668

    Google Scholar 

  12. 12.

    Leech RW, Shuman RM (1986) Holoprosencephaly and related midline cerebral anomalies: a review. J Child Neurol 1:3–18

    Google Scholar 

  13. 13.

    Lurie IW, Nedzved MK, Lazjuk GI, Kirillova IA, Cherstvoy ED (1979) Aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome. Am J Med Genet 3:303–309

    Google Scholar 

  14. 14.

    Lurie IW, Nedzved MK, Lazjuk GI, Kirillova IA, Cherstvoy ED, Ostrovskaja TI, Shved IA (1980) The XK-aprosencephaly syndrome. Am J Med Genet 7:231–234

    Google Scholar 

  15. 15.

    Martin RA, Carey JG (1982) A view and case report of aprosencephaly and the XK aprosencephaly syndrome. Am J Med Genet 11:369–371

    Google Scholar 

  16. 16.

    Nyberg dA, Mack LA, Bronstein A, Hirsch J, Pagon RA (1987) Holoprosencephaly: prenatal sonographic diagnosis. Am J Radiol 149: 1051–1058

    Google Scholar 

  17. 17.

    Roach E, Demyer W, Conneally PM, Palmer C, Merritt AD (1975) Holoprosencephaly: birth data, genetic and demographic analyses of 30 families. Birth Defects 11:294–313

    Google Scholar 

  18. 18.

    Shewmon DA, Sherman MP, Danner R (1984) Atelencephalic microcephaly. Clin Pediatr 23:649–651

    Google Scholar 

  19. 19.

    Siebert JR, Warkany J, Lemire RJ (1986) Atelencephalic microcephaly in a 21-week human fetus. Teratology 34:9–19

    Google Scholar 

  20. 20.

    Siebert JR, Kokich VG, Warkany J, Lemire RJ (1987) Atelencephalic microcephaly: craniofacial anatomy and morphologic comparisons with holoprosencephaly and anencephaly. Teratology 36:279–285

    Google Scholar 

  21. 21.

    Towfighi J, Ladda RL, Sharkey FE (1987) Purkinje cell inclusions and “atelencephaly” in 13q-chromosomal syndrome. Arch Pathol Lab Med 111:146–150

    Google Scholar 

Download references

Author information



Rights and permissions

Reprints and Permissions

About this article

Cite this article

Kim, T.S., Cho, S. & Dickson, D.W. Aprosencephaly: Review of the literature and report of a case with cerebellar hypoplasia, pigmented epithelial cyst and Rathke's cleft cyst. Acta Neuropathol 79, 424–431 (1990).

Download citation

Key words

  • Aprosencephaly
  • Glio-ependymal cyst
  • Pigmented epithelial cyst
  • Rathke's cleft cyst