Clinicopathological Findings Associated with Agenesis of the Corpus Callosum

@article{Jeret1987ClinicopathologicalFA,
  title={Clinicopathological Findings Associated with Agenesis of the Corpus Callosum},
  author={Joseph S. Jeret and David Serur and Krystyna E. Wisniewski and Robert A. Lubin},
  journal={Brain and Development},
  year={1987},
  volume={9},
  pages={255-264}
}

Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients

TLDR
In this series of cases a variety of genetic causes of disorders of the corpus callosum were identified with cytogenetic anomalies representing the most common underlying etiology.

Associated anomalies in cases with agenesis of the corpus callosum

TLDR
The overall prevalence of associated anomalies, three of four cases, emphasizes the need for a screening for other anomalies in cases with ACC.

Agenesis of the corpus callosum in Turner's syndrome: report of a case and review of the literature.

TLDR
A 32-year-old female with TS was found to have agenesis of the corpus callosum (ACC) and various clinical features including coarctation of aorta, hypertelorism, small jaw, short and webbed neck, cubitus valgus, and absence of the uterus.

Clinical and Diagnostic Profile of Agenesis of the Corpus Callosum

  • M. Shevell
  • Medicine, Psychology
    Journal of child neurology
  • 2002
TLDR
A spectrum of clinical presentations, underlying etiology, and developmental outcome is thus apparent in children with agenesis of the corpus callosum, and a normal or mildly delayed outcome is apparent in slightly less than a third of cases.

Agenesis of corpus callosum: prenatal diagnosis and prognosis

TLDR
It is demonstrated that if outcome of isolated ACC is favorable, a long follow-up is necessary: with age, IQ in the lower range and behavioral troubles are linked to difficulties in school.

Agenesis of the corpus callosum and limbic malformation in Apert's syndrome.

TLDR
The presence of severe syndactyly in Apert's syndrome suggests that ACC, mental retardation, and limbic malformations are likely, and its frequent, but not universal, occurrence in Abert's syndrome should not be overstated.

Agenesis of the Corpus Callosum: An MR Imaging Analysis of Associated Abnormalities in the Fetus

TLDR
AC is infrequently isolated in fetuses and suggests more diffuse white matter dysgenesis in these fetuses, which may give insight into etiology and outcome.

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.

TLDR
Prenatal and postmortem examinations identified a variety of genetic causes of Corpus callosum malformation, but no diagnosis could be established in 67% of cases, paving the way for further genetic studies and genotype-phenotype correlations.

Counseling in fetal medicine: agenesis of the corpus callosum

  • S. SantoF. D’Antonio A. Papageorghiou
  • Medicine
    Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
  • 2012
TLDR
Findings need to be considered in light of the several limitations of existing studies, in terms of study design, selection bias, varying definitions and imaging protocols, ascertainment bias and lack of control groups.
...

References

SHOWING 1-10 OF 141 REFERENCES

HEREDITARY PARTIAL AGENESIS OF CORPUS CALLOSUM; BIOCHEMICAL AND PATHOLOGICAL STUDIES.

TLDR
A family in whom this anomaly was transmitted in a sex-linked, recessive manner, affecting five male infants, manifested itself by seizures commencing within a few hours of birth and by severe developmental retardation.

Agenesis of corpus callosum in infancy; clinical and roentgenologic aspects.

TLDR
Twenty-two cases have been diagnosed by roentgenologic means, 10 of which were confirmed by necropsy studies or at operation, and more adequate opportunities were afforded for accurate study of the clinical aspects of these cases and for better classification.

Agenesis of the corpus callosum associated with multiple developmental anomalies of the cerebral arteries.

TLDR
Two cases of agenesis of the corpus callosum have been examined by cerebral angiography and the diagnosis was verified by cerebral pneumography in each instance, but theAngiographic features seemed specific enough to permit the correct diagnosis on the basis of the angiograms alone.

Agenesis of the corpus callosum; lipoma of the corpus callosum; their roentgen recognition and differentiation.

TLDR
It is of interest that in the last eighteen months a strikingly representative roentgen demonstration of each of the anomalies mentioned is encountered, including two cases of lipoma of the corpus callosum diagnosed radiologically.

AGENESIS OF THE CORPUS CALLOSUM WITH POSSIBLE PORENCEPHALY: REVIEW OF THE LITERATURE AND REPORT OF A CASE

TLDR
All the reported cases in the English literature in which an antemortem diagnosis of agenesis of the corpus callosum was made are reviewed and an additional case associated with a suspected porencephalic cyst is reported.

THE RADIOLOGICAL APPEARANCES OF AGENESIS OF THE CORPUS CALLOSUM

TLDR
It is found that the bicornuate appearance of the lateral ventricles, together with the raised roof of the third ventricle, are diagnostic, but Bunts and Chaffee (1944) in a review of the encephalographic appearances of all published cases, find that while the third Ventricle is always raised, the bICornuate shape is not constant.

Agenesis of corpus callosum as a possible sequel to maternal rubella during pregnancy.

TLDR
This work has found no reports of agenesis of the corpus callosum associated with cataracts, and the case to be described differs from the usual picture.

Agenesis of the corpus callosum diagnosed during life; review of the literature and presentation of two cases.

THE INTRODUCTION of pneumoencephalography and ventriculography by Dandy 1 provided diagnostic tools for the demonstration and localization of intracranial pathology without equal in neurology, though

Cerebral angiography in agenesis of the corpus callosum.

TLDR
Although the features of complete or relatively complete agenesis of the corpus callosum are well known, little has been written concerning the changes demonstrated by cerebral angiography.

Frequency of agenesis of the corpus callosum in the developmentally disabled population as determined by computerized tomography.

TLDR
The significantly higher rate from 1978 to 1979 suggests an initial tendency of neuroradiologists to over-diagnose ACC, and CT data from the 1970s may need to be reexamined.
...