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PubMedDate not supplied

[Corpus callosum agenesis].

BACKGROUND: Corpus callosum agenesis (CCA) is an uncommon entity, which can be diagnosed in utero. Uncertain prognosis makes prenatal counseling difficult. AIM. We have tried to establish a positive correlation between clinical history and imaging findings in patients with CCA. PATIENTS AND METHODS: We retrospectively reviewed clinical data and imaging findings of patients with callosal agenesis diagnosed at our institution between December 1995 and September 2002. RESULTS: Eight patients with CCA were found, five males and three females. Mean age at last clinical follow up was six years and six months, ranging from three months to 20 years. All diagnoses except for one were post natal. All patients underwent, at least, one magnetic resonance (MR) of the brain. Abnormal pregnancy was reported in three patients. Family history was unremarkable in all patients. Three patients were diagnosed with isolated CCA. One of these patients was asymptomatic at three months. Another had a slight language delay at seventeen months. The other patient had a mild developmental delay at five years. All other five patients had non isolated CCA and all were symptomatic, with variable clinical pictures: psicomotor developmental delay (4), epilepsy (4), hemiparesis (1), ocular apraxia (1), macrocephaly (2). CONCLUSION: Non isolated CCA is likely to have a worse prognosis. This may be of significant value in prenatal counseling.

Adolescent↗
PubMedDate not supplied

Isolated complete agenesis of corpus callosum.

Agenesis of corpus callosum (ACC) often accompanies other neural migration disorders and its prognosis must take these disorders and other associated abnormalities into account. Isolated complete ACC, i.e., agenesis of corpus callosum without other central nervous system anomaly, is rare. A total of six patients, aged nine months to 15 years, with isolated complete ACC diagnosed by brain image study in the past eight years of our hospital were evaluated for associated defects and prognosis. Isolated complete ACC without associated congenital heart disease (CHD) was found in four of the six patients (4/6), of whom three had normal development so far. The other two patients (2/6) were found to have associated CHD and both had poor prognosis. This result suggests that checking for any associated CHD may play an important prognostic role for isolated complete ACC patients. Therefore, it is recommendable that prenatal brain MRI and fetal echocardiography should be performed for evaluation and for genetic consultation whenever ACC is suspected.

Adolescent↗
PubMed1988

Antenatal sonographic findings of agenesis of corpus callosum.

Agenesis of the corpus callosum is a central nervous system anomaly that may be associated with other intracranial abnormalities. It is easily diagnosed in the postnatal period by computed tomographic scan and ultrasound. However, its prenatal sonographic diagnosis remains a challenge. This report will evaluate three cases of fetal agenesis of the corpus callosum, review the antenatal sonographic findings and postnatal outcomes, and provide criteria for the antenatal diagnosis.

Adult↗
PubMed2001

Corpus callosum agenesis.

OBJECTIVE: The objectives are to analyse corpus callosum agenesis in children with various neurological problems in a hospital set-up, and to study the neurological and systemic abnormalities associated with this condition. METHODS: The children with various neurological problems who underwent computerized tomography brain from January 1993 to December 1997, and were found to have corpus callosum agenesis, formed the subjects of this study. These children were examined for any syndromic association, congenital infections or metabolic defects. RESULTS: Out of 2164 children who underwent computerized tomography brain, 22 had corpus callosum agenesis (1%). Most cases were not syndromic and 64% were males. Epileptic disorders were noted in about one third of cases. CONCLUSION: Corpus callosum agenesis is an important anomaly in children with neurodevelopment handicaps, usually detected by neuroradiology.

Agenesis of Corpus Callosum↗
PubMed2004

[Partial corpus callosum agenesis].

PURPOSE: The diagnosis of corpus callosum agenesis (CCA) with prenatal MRI relies on indirect signs. However, they are known to be inconstant in case of incomplete CCA. The purpose of this study is to specify the frequency of indirect signs in partial CCA to approach the reliability of fetal MRI. MATERIALS AND METHODS: This retrospective study included 33 children with partial CCA. MRI were reviewed by two observers and a standardized radiological and clinical data collection was performed. Depending on the ratio CC length/anteroposterior brain diameter, two groups were statistically compared: subtotal partial CCA and mild partial CCA. RESULTS: 14% of patients had none indirect sign and 33% had only one sign. We found a significative difference of frequency for most of the indirect signs. 48% of patients had other cerebral anomalies. Clinical correlation showed no statistical difference between the two groups. CONCLUSION: This series shows that indirect signs are inconstant in partial CCA and related to the CC length. In contrast, mild and subtotal CCA have a similar neurological outcome. These data suggest that greatest care has to be taken in the interpretation of fetal MRI.

Agenesis of Corpus Callosum↗
PubMed1989

[Ultrasonic diagnosis of agenesis of the corpus callosum].

Agenesis of the corpus callosum may be diagnosed successfully in vivo when sonograms demonstrate absence of corpus callosum, absence of pericallosal and cingulate sulci, wide interhemispheric fissure, small laterally positioned frontal horns with concave lateral borders. Two cases of corpus callosum agenesis were diagnosed in early infancy by ultrasound. Ultrasonographic anatomy of the corpus callosum and characteristic ultrasound features and neurological findings of agenesis are described.

Agenesis of Corpus Callosum↗
PubMed2004

[Isolated familial corpus callosum agenesis prognosis].

Agenesia of corpus callosum belongs to a group of cerebral malformations whose prognosis is uncertain. In such cases, assessment of prognosis may benefit from eventual associated fetal, obstetrical or familial features. We report a patient with an isolated corpus callosum agenesia that led to the discovery of a similar malformation in her father. This observation demonstrates that some forms of isolated and familial corpus callosum agenesia could have a favorable outcome. However, the difficulty of the assessment of prognosis in isolated corpus callosum agenesia is emphasized and the question of parental RMI exploration in such a peculiar context is raised.

Adult↗
PubMed1999

[Corpus callosum agenesis and epileptic seizures].

INTRODUCTION: The corpus callosum is the major neopallial connection between the two cerebral hemispheres. The corpus callosum agenesis (CCA) is found in 14% of CNS malformations. The diagnosis is based on neuroimaging procedures (ultrasonography, CT, MRI). The CCA is usually associated with facial dysmorphia, developmental delay and epileptic seizures. Two casuistic are studied, one with necropsies material and another with CCA patients alive, on which CCA was frequently associated with other CNS malformations, in order to establish the circumstances in which the epileptic seizures have been observed. DEVELOPMENT: It is commonly admitted that the presenting signs or symptoms in individuals with CCA are due to concurrent brain abnormalities and that isolated CCA is essentially asymptomatic. The CCA is a common component in some malformative syndromes, frequent in another, and occasional in many of them. The CCA has been reported in many chromosomal aberrations and less frequently in inborn errors of metabolism and neurocutaneous diseases. In the casuistic studies of 73 patients alive, 25 (39%) have presented epileptic fits: in 24 of them the CCA was associated to another brain abnormalities; in 17 cases, the first seizures was recorded during the first year, in 6 cases between 1 and 3 years and in cases after 2 years: the type of epileptic seizures is variable: neonatal convulsions in 4 cases, infantile spasms in 5, unilateral fits in 3, and partial seizures in 1 case. In the necropsies casuistic with 26 CCA cases, 6 (23%) suffered epileptic fits, all with another malformations of the CNS; in 3 the onset of the seizures was during the newborn period, 2 had infantile spasms during the first years and 1 case generalized seizures during the second year. CONCLUSIONS: 1. Epileptic seizures were observed in 23%-39% of the CCA cases studied. 2. All cases with CCA, except for one, have also another brain abnormality. 3. In 70% of the cases, the onset of the fits takes place during the first year. 4. The type of seizures is variable with predominance of infantile spasms and unilateral seizures.

Agenesis of Corpus Callosum↗
PubMed2002

[Value of fetal cerebral magnetic resonance imaging for the prenatal diagnosis and prognosis of corpus callosum agenesis].

OBJECTIVE: To evaluate MR contribution to prenatal diagnosis and prognosis of corpus callosum agenesis suspected by ultrasound and to ascertain how and when this examination should be included part in prenatal management of such malformation. PATIENTS AND METHODS: During a six-year period from January 1st 1994 and December 31st 2000, fifteen patients (and fifteen fetuses) were referred to our fetal medicine unit with suspicion of corpus callosum agenesis on prenatal ultrasound. Cerebral MRI was performed in all cases to confirm prenatal diagnosis. In our study, prenatal MRI examinations were retrospectively studied and compared with neuropathological examinations (n=8) or postnatal imaging (n=6). RESULTS: Corpus callosum agenesis were either complete (n=13) or partial (n=1). All were visible on prenatal MRI but only six on prenatal ultrasound. In one case, ultrasound suspicion of corpus callosum agenesis was ruled-out (false positive on prenatal ultrasound) by fetal cerebral MRI. In five cases corpus callosum agenesis was an isolated finding whereas in 12 cases associated malformations were encountered (cerebral n=7 or extra-cerebral n=5). MR depicted 7 of the 12 associated neurologic abnormalities. CONCLUSION: Prenatal MRI is a valuable complementary technique for either diagnosis of corpus callosum agenesis and depiction of associated neurologic abnormalities. Superiority of MR on prenatal sonography and its help in post-mortem examination of the brain (help in the choice of the pathologic technique and localisation of the samples) makes it essential even when pregnancy termination is considered.

Adult↗
PubMed2005

Spectrum of corpus callosum agenesis.

Magnetic resonance imaging and clinical features of 16 children with agenesis of the corpus callosum are reviewed. The patients were classified in three groups. Eight children had agenesis of the corpus callosum without substantial involvement of other brain areas. This group included patients with interhemispheric cyst, lipoma, or partial agenesis (hypogenesis) of the corpus callosum. Four patients in the second group manifested severe telencephalic dysgenesis in addition to agenesis of the corpus callosum. In the third group, agenesis of the corpus callosum was a component of a syndrome in four children. The outcome was not favorable for the majority of patients, even in the first group without significant involvement of other systems. Severe handicaps with developmental delay, intellectual disability, and neurologic deficit were observed in patients with additional telencephalic dysgenesis or syndromic form of corpus callosum agenesis.

Abnormalities, Multiple↗
PubMed1998

[Genetics of agenesis of the corpus callosum].

Agenesis of corpus callosum (ACC) is one of the most common brain malformations observed in humans. It is a heterogeneous malformation, with many etiologies. Isolated ACC is usually sporadic but familial cases have been reported. ACC can complicate numerous polymalformative, either monogenic or chromosomal syndromes. In some of them, for example Aicardi syndrome, Anderman syndrome or acrocallosal syndrome, ACC is a mandatory manifestation. Further identification of the molecular bases of these syndromes will be helpful in understanding the causal heterogeneity of this malformation.

Agenesis of Corpus Callosum↗
PubMed1998

[Prenatal MRI of corpus callosum agenesis. Study of 20 cases with neuropathological correlations].

Twenty prenatal MR studies of corpus callosum agenesis were retrospectively studied and compared with neuropathologic examinations (18) or postnatal imaging (2). Corpus callosum agenesis were either complete (14) or partial (6). Positive diagnosis was made in 19 cases/20. The diagnosis of "isolated" or "associated" corpus callosum agenesis was assessed in 11 cases/15. MR depicted 15 of the 33 associated neurologic abnormalities. Prenatal MR is a valuable complementary technique for the diagnosis of corpus callosum agenesis when sonography is doubtful. MR could improve prognosis evaluation, since it enables depiction of associated abnormalities, notably gyral abnormalities, posterior fossa malformations, and intra-cranial cysts. MR images prove to be useful before neuropathologic examinations.

Agenesis of Corpus Callosum↗
PubMed1982

Computed tomographic evaluation of corpus callosum agenesis and associated malformations.

Agenesis of the corpus callosum is not an uncommon congenital malformation in neurologically symptomatic children. The computed tomographic scan characteristics of uncomplicated agenesis of the corpus callosum include: (a) widely separated parallel or nonconverging lateral ventricles; (b) "Bat wing" or "bullhorn" appearance of the frontal horns; (c) High-riding third ventricle which may be enlarged and have a tear-drop or rhomboid appearance; and (d) Selective dilatation of the occipital horns occurs frequently. Associated malformations identifiable by computed tomographic scan include Dandy-Walker cysts, interhemispheric cysts, porencephaly, Arnold-Chiari II malformations, and skull deformities.

Abnormalities, Multiple↗
PubMed1998

Prenatal diagnosis of fetal corpus callosum agenesis by ultrasonography and magnetic resonance imaging.

Corpus callosum agenesis (CCA) was evaluated by ultrasound examination and magnetic resonance imaging (MRI) in 14 cases. Ultrasonography was able to suspect CCA by indirect signs but a definitive diagnosis of CCA was achieved in only four cases. MRI was able to diagnose complete CCA in 13 cases and showed absence of the posterior portion of the corpus callosum in one case. Additional neurological abnormalities including heterotopia, gyration anomaly, asymmetry of the cerebral hemispheres, and Dandy-Walker variant were documented in five cases, as well as an ocular anomaly which was present in one case, by MRI examination. Prenatal counselling for fetal agenesis of the corpus callosum is difficult as the prognosis is uncertain. The association with other cerebral abnormalities increases the likelihood of a poor outcome and ultrasonographic assessment of the fetal brain is limited. We found MRI to be a safe and useful additional procedure to complement ultrasonographic diagnosis or suspicion of CCA.

Adult↗
PubMed2007

MR demonstration of complete cerebellar and corpus callosum agenesis.

Complete cerebellar agenesis is a very rare entity, which occurs during the early period of embryogenesis and is usually associated with severe motor dysfunction. We report a case of complete cerebellar agenesis with complete corpus callosum agenesis diagnosed on magnetic resonance imaging (MRI). These anomalies were also associated with rudimentary pons.

Agenesis of Corpus Callosum↗
PubMed2005

[Cocaine and trisomy 8 associated with prenatal diagnosis of corpus callosum agenesis].

We report the case of a newborn presenting an agenesis of corpus callosum (ACC) discovered in the prenatal period and initially related to cocaine exposure during the first trimester of gestation. The cytogenetic analysis revealed a trisomy 8 mosaicism. The putative role of prenatal cocaine exposure and mosaicism for chromosome 8 in ACC are discussed. This report emphasizes the specific analysis of chromosome 8 by using fluorescence in situ hybridization as a complement to routine cytogenetic analysis for prenatal diagnosis of ACC.

Abnormalities, Drug-Induced↗
PubMed1996

[Corpus callosum agenesis and parasagittal interhemispheric cyst].

We report the association of a corpus callosum agenesis with a parasagittal interhemispheric cyst, without cortical malformation. This rare malformation is related to an early disorder in embryogenesis. The importance of the anatomic abnormalities compared with the good clinical status is remarkable. MR findings avoid misdiagnosis with a medial interhemispheric cyst associated to corpus callosum agenesis in which the prognosis is unpredictable.

Agenesis of Corpus Callosum↗