Atelencephalic aprosencephaly

J Child Neurol. 1994 Oct;9(4):412-6. doi: 10.1177/088307389400900416.

Abstract

Absence of the telencephalon and diencephalon characterizes the syndrome of aprosencephaly, while in atelencephaly, only the telencephalon is absent. Atelencephalic aprosencephaly is characterized by the presence of at least a rudimentary diencephalon. Embryologically, aprosencephaly is thought to occur after the optic vesicles form but before the cerebral vesicles appear. The syndrome is quite rare, with only 10 cases previously reported. We describe two fetuses with atelencephalic aprosencephaly. A 25-week estimated gestational age fetus was born to first-cousin parents and had a prenatal ultrasonographic diagnosis of anencephaly. The second, a 19-week estimated gestational age fetus, was thought to have semilobar holoprosencephaly by prenatal ultrasound. At autopsy, neuropathologic examination in both cases showed virtual absence of the cerebral hemispheres with an incomplete diencephalon. Microscopic examination in one case revealed disorganized neuropil with a proliferative vasculopathy. The optic globes were completely formed and attached to hypoplastic optic nerves, but retinal dysplasia was apparent histologically in both cases, and bilateral colobomata were present in one case. The findings in these cases demonstrate a spectrum of congenital variations that lie between the syndromes of atelencephaly and aprosencephaly, underscoring the complexity of the congenital anomalies.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Abortion, Eugenic
  • Brain / pathology
  • Consanguinity
  • Female
  • Fetal Death / pathology
  • Humans
  • Infant, Newborn
  • Male
  • Microcephaly / diagnostic imaging
  • Microcephaly / genetics
  • Microcephaly / pathology
  • Pregnancy
  • Prosencephalon / abnormalities*
  • Prosencephalon / pathology
  • Syndrome
  • Telencephalon / abnormalities*
  • Telencephalon / pathology
  • Ultrasonography, Prenatal