Agenesis of the corpus callosum is a frequent anomaly that presents with a spectrum of clinical features and exhibits variable findings in neurological studies. Callosal agenesis may be an isolated anomaly or may be syndromic as part of more extensive malformations, metabolic and genetic disorders. We experienced a case of agenesis of corpus callosum with developmental delay, diagnosed to acrocallosalsyndrome. Acrocallosal syndrome is an autosomal recessive condition, characterized by agenesis of the corpus callosum, pre- and postaxial polydactyly, minor craniofacial anomalies, and, in most patients, severe psychomotor retardation. We here reported a case of acrocallosal syndrome with the review of literatures.
Acrocallosal Syndrome* ; Agenesis of Corpus Callosum ; Corpus Callosum ; Humans ; Polydactyly

No abstract available.
Agenesis of Corpus Callosum*

No abstract available.
Agenesis of Corpus Callosum*

No abstract available.
Agenesis of Corpus Callosum*

No abstract available.
Agenesis of Corpus Callosum

Thirty three cases with agenesis of the corpus callosum were reviewed from the base of brain CT findings for last 7 years. Clinical features, associated clinical anomalies and CT findings were also analysed and the embryological basis for agenesis of the corpus callosum were reviewed from the literature.
Agenesis of Corpus Callosum* ; Brain ; Corpus Callosum ; Embryology

OBJECTIVE: To report the clinical characteristics of the fetuses with agenesis of corpus callosum (ACC) diagnosed by prenatal ultrasonography. METHODS: Between 1998 and 2007, total twenty-two cases of ACC were identified. All cases were diagnosed by the direct evaluation of the corpus callosum using the ultrasonograpy with or without 3D multi-slice technique and color Doppler. Postnatal work-up was done by MRI or autopsy. RESULTS: The median gestational week was 26 weeks (19 to 34 weeks). The most common abnormal ultrasonographic finding was ventriculomegaly, shown in 19 (86.3%) of 22 cases. Absent cavum septum pellucidum and dilated upward displacement of third ventricle were also shown in 18 (81.8%) and 15 (68.2%) of 22 cases, respectively. Postnatal work-up performed in 9 cases (4 live-born babies and 5 still births) additionally confirmed the associated anomalies in three cases including a heart defect, an Aicardi syndrome, and trisomy 18. CONCLUSION: The analysis of 22 cases presented in this report provides the precise materials to understand ACC. Targeted ultrasonographic evaluation may be helpful for prenatal diagnosis of ACC but has the limitation in differentiation of an isolated ACC from complex defect. To solve this limitation, therefore, the meticulous prenatal work-up and counseling would be needed.
Agenesis of Corpus Callosum ; Aicardi Syndrome ; Corpus Callosum ; Counseling ; Displacement (Psychology) ; Fetus ; Heart ; Prenatal Diagnosis ; Septum Pellucidum ; Third Ventricle ; Trisomy

PURPOSE: To evaluate types of gray matter heterotopias, associated brain anomalies, and its correlation with the patterns of seizure. MATERIALS AND METHODS: We evaluated retrospectively 19 patients(male :female=10:9, mean age 21 years) with gray matter heterotopias on brain MRI. Using 1.0T superconducting MR unit, spin echo TI-, proton-density- and T2-weighted images in axial, coronal and sagittal planes were obtained. RESULTS: Types of gray matter heterotopias were single subependymal in four patients, multiple subependymal in one, focal subcortical in eight, diffuse subcortical in two, mixed multiple subependymal and focal subcortical in four. Associated anomalies were seen in 11 patients:other neuronal migration anomalies in eight patients, corpus callosum agenesis in two, and combined holoprosencephaly and Dandy-Walker malformation in one. Fifteen patients had seizure. The patterns of seizure were not correlated with the types of heterotopias. CONCLUSION: In addition to subependymal, focal subcortical, and diffuse subcortical types, gray matter heterotopias included mixed variant of of multiple subependymal and subcortical type. Schizencephaly was the most common form of accompanying anomalies, and patterns of seizure were not correlated with types of gray matter heterotopias, even though main clinical menifestation was seizure.
Agenesis of Corpus Callosum ; Brain ; Dandy-Walker Syndrome ; Holoprosencephaly ; Humans ; Magnetic Resonance Imaging ; Malformations of Cortical Development ; Neurons ; Retrospective Studies ; Seizures

Agenesis of corpus callosum occurs sporadically and may be transmitted as sex-linked, or autosomal-dominant or recessive traits. It has been associated with different syndromes. Clinical pictures vary from severe intellectual and neurologic abnormalities to asymptomatic and normaly intelligent cases. Agenesis of corpus callosum may occur alone, but it is more frequently associated with a high incidence of other anomalies. We report a male infant with agenesis of corpus callosum who was diagnosed to have ileal atresia and duplication.
Agenesis of Corpus Callosum* ; Corpus Callosum* ; Humans ; Incidence ; Infant ; Male

Aicardi syndrome is defined by the clinical triad infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Infantile spasm begins at early infancy and tends to be controlled poorly. The prognosis is poor in the patient with severe developmental delay and intractable seizures being common. We present a case of Aicardi syndrome in the 9-month-old female infant with infantile spasm, spastic tetraplegia and microcephaly. Her brain MRI revealed corpus callosum agenesis, atrophy of left hemisphere and periventricular heterotopia. She showed bilateral choroidal and optic disc coloboma. We report this case with the review of literatures.
Agenesis of Corpus Callosum ; Aicardi Syndrome* ; Atrophy ; Brain ; Choroid ; Coloboma ; Corpus Callosum ; Female ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Microcephaly ; Periventricular Nodular Heterotopia ; Prognosis ; Quadriplegia ; Seizures ; Spasms, Infantile