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Atelencephalic microcephaly: a case report and review of the literature
P F Ippel1, E J Breslau-Siderius, W W Hack
1Clinical Genetics Centre, Utrecht, The Netherlands.
Unlabelled:
Atelencephalic microcephaly is a lethal form of abnormal cerebral development. In atelencephaly there is a rudimentary prosencephalon; in aprosencephaly, a more severe form of cerebral malformation, both prosencephalic and diencephalic derivatives fail to develop; both conditions form the aprosencephaly/atelencephaly spectrum (AAS). In the literature 20 cases with atelencephaly or aprosencephaly have been described. Except for the brain malformation other congenital abnormalities seem to be present more often in patients with aprosencephaly. In two patients (one with atelencephaly and one with aprosencephaly) an aberration of chromosome 13 was found. We report on a prematurely born microcephalic male infant with a severely malformed calvarium with overlying rugged skin, non-fused cranial sutures, absent fontanelles, and multiple contractures. CT scan of the brain revealed neither cerebral hemispheres, nor ventricles and a diagnosis of atelencephalic microcephaly was made. In the literature two sibs have been described, products of consanguineous parents, who were the only ones with cerebellar dysgenesis. Aprosencephaly/atelencephaly spectrum in combination with cerebellar dysgenesis seems to be an autosomal recessive syndrome.
Conclusions:
Atelencephalic microcephaly is a distinct entity and should be differentiated from anencephaly and the fetal brain disruption sequence. The aetiology of the disorder is unknown.
Insights
Atelencephalic microcephaly, a severe brain malformation, is a distinct condition. Further research may reveal its genetic basis, potentially an autosomal recessive syndrome with cerebellar dysgenesis.
Area of Science:
- Neuroscience
- Developmental Biology
- Genetics
Background:
- Atelencephalic microcephaly is a rare, lethal congenital disorder characterized by abnormal cerebral development.
- It falls within the aprosencephaly/atelencephaly spectrum (AAS), encompassing conditions with rudimentary or absent prosencephalic and diencephalic derivatives.
Observation:
- The study presents a case of a prematurely born male infant with microcephaly, severe calvarial malformation, and multiple contractures.
- Brain imaging revealed absent cerebral hemispheres and ventricles, consistent with atelencephalic microcephaly.
Findings:
- Aprosencephaly/atelencephaly spectrum (AAS) is associated with other congenital abnormalities, more frequently in aprosencephaly.
- Chromosome 13 aberrations were noted in two prior cases.
- A familial occurrence of AAS with cerebellar dysgenesis suggests a potential autosomal recessive inheritance pattern.
Implications:
- Atelencephalic microcephaly should be distinguished from anencephaly and fetal brain disruption sequence.
- The etiology of this disorder remains unknown, highlighting the need for further investigation into its genetic and developmental underpinnings.