Neurological and clinical outcomes in infants and children with a fetal diagnosis of asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum

OBJECTIVE Advances in prenatal imaging have facilitated improvements in the fetal diagnosis of congenital anomalies. Asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum (AVID) is a constellation of congenital anomalies reported in fetal imaging. However, few data are available regarding postnatal outcomes of infants and children with a fetal diagnosis of AVID. The authors sought to report the neurodevelopmental outcomes of patients diagnosed with AVID before birth at a single institution. METHODS An institutional fetal imaging database was queried to identify cases with ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum over a 10-year study period from 2000 to 2019. Overall, 41 maternal-infant dyads who met imaging criteria for AVID were identified; medical records were reviewed for prenatal variables including gestational age at birth, perinatal complications including fetal demise, and postnatal variables including demographics, mortality, hydrocephalus diagnosis and management, epilepsy, and neurodevelopmental outcomes at 2 years or the last follow-up. RESULTS Among 41 patients, 25 (61%) were male. A slight majority of patients (55%) were born before 36 weeks of gestational age, and 27 patients (68%) were delivered via cesarean section because their head size precluded vaginal delivery. There were 8 incidences of fetal demise, 1 pregnancy was terminated, and 32 patients were born alive. Neonatal or early infant death occurred in 5 patients. Two children died during follow-up after the neonatal period (ages 7 months and 7 years). Twenty-six children survived to at least the 2-year follow-up, all of whom required treatment for hydrocephalus. Of those 26 children, 12 (46%) had a diagnosis of epilepsy, 14 (54%) could sit independently, 4 (16%) were in mainstream school, 16 (62%) had expressive language, and 7 (28%) had near-normal development without seizures. CONCLUSIONS Among 41 maternal-fetal dyads with AVID, a majority of children survived to the 2-year follow-up, although all developed hydrocephalus. Many continued to have seizures, but expressive language use, attendance at mainstream school, and near-normal development without seizures were not infrequent. These data are critical for prenatal counseling and to establish the natural history of a diagnosis with limited outcome data.

Interhemispheric arachnoid cyst

Background: Interhemispheric arachnoid cysts are uncommon and typically associated with other midline neurodevelopmental disorders, such as complete or partial agenesis of the corpus callosum. Case Description: We report a case of a 27-year-old woman with worsening headache, memory deficit, and radiological progression of an interhemispheric arachnoid cyst. The treatment consisted of craniotomy for interhemispheric cyst fenestration into both the interhemispheric cistern and lateral ventricle. The postoperative course was unremarkable, with considerable clinical improvement and significant reduction in cyst size. Conclusion: We successfully treat a patient with an enlarging arachnoid cyst and associated progressive symptoms with microsurgical fenestration.

AVID triad: a case report

Asymmetric ventriculomegaly, interhemispheric cyst and dysgenesis of the corpus callosum (AVID) constitutes a rare imaging triad. Additional findings include subcortical and subependymal heterotopia, polymicrogyria, fused thalami, deficient falx, and hydrocephalus. The knowledge of this triad helps us to diagnose prenatally by sonography and fetal MRI. In this case report authors present MRI Imaging findings in a case of AVID syndrome in a 6year old male child presenting with history of seizures and delayed milestones.

Agenesis of the corpus callosum with interhemispheric cyst: clinical implications and outcome

We describe two cases of agenesis of the corpus callosum (ACC) with interhemispheric cyst (IHC). Case 1: a male infant was born at 36 weeks gestation with a history of second trimester fetal ultrasound (US) scan and MRI showing ACC with IHC. His head circumference at birth and 5 months was at 90th centile. He developed infantile spasm and electroencephalogram showed hypsarrhythmia at 5 months of age. Seizures were controlled. He is under evaluation for surgical treatment. Case 2: ACC with a midline cyst was reported in the midtrimester US scan of a male infant. Subsequent fetal scans showed increasing size of the cyst. At birth, he had macrocephaly with a head circumference above 97th centile. MRI of the brain confirmed ACC with IHC. The parents refused a cystoperitoneal shunt offered. The child displayed gross neurodevelopmental delay with progressive hydrocephalus on follow-up and succumbed to aspiration pneumonia at 22 months of age.