Aprosencephaly

Aprosencephaly

Description

In normal brain development the prosencephalon (forebrain) gives rise to the telencephalon and diencephalon which develop into the cerebral hemispheres and thalami respectively. Disruption of this process may lead to severe underdevelopment of the cerebrum with an intact cranial vault; this condition is called aprosencephaly. Atelencephaly is considered to be a less severe form, whereby the thalami are preserved. Both result in extreme microcephaly.

Diagnosis

The condition is rarely diagnosed antenatally. The calvarium is intact, and extreme microcephaly is evident. No forebrain derivatives are present. Oculo-facial anomalies (almost always midline) may include cyclops with no proboscis and extreme nasal hypoplasia. Adrenal hypoplasia, congenital heart disease, abnormal genitalia and limb malformations have all been reported in association with aprosencephaly.

Differential Diagnosis

Anencephaly is characterised by loss of the bony calvarium as well as absence of most or all cerebral tissue. In hydranencephaly there is virtual absence of the cerebral hemispheres, but a normal skull in which there are fluid filled sacs replacing the brain. The cerebellum is normal and the falx is usually present. The facial abnormalities are similar to those seen in alobar holoprosencephaly but the presence of a sickle-shaped monoventricle will confirm diagnosis of the latter.

Sonographic Features

Severe microcephaly with intact calvarium.

Underdevelopment of brain especially in anterior cranium.

Facial anomalies including cyclops (no proboscis) and extreme nasal hypoplasia

 
 

Associated Syndromes

  • Chromosomal
  • XK-aprosencephaly

References

  1. Harris CP, Townsend JJ, Norman MG, White VA, Viskochil DH, Pysher TJ, Klatt EC Atelencephalic aprosencephaly pigmented epithelial cyst and Rathke’s cleft cyst J Child Neurol 9: 412-416
  2. Lurie IW, Kirillova IA, Nedzved MK, Krapiva GA Which brain defects accompany cyclopia? Genet Couns 3: 127-132
  3. Tick DB, Greenberg F, Reiter A et al Prenatal detection of telencephalic hypoplasia Proc Greenwood Genet Center 9: 127
  4. Kim TS, Cho S, Dickson DW 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
  5. Siebert JR, Warkany J, Lemire RJ Atelencephalic microcephaly in a 21-week human fetus Teratology 34: 9-19