Holoprosencephaly results from incomplete separation of the cerebral hemispheres. Cyclopia is a facial manifestation of Holoprosencephaly, characterized by a midline single orbit and proboscis. Prenatal diagnosis is done by ultrasonography and can be supplemented by MRI. This case uniquely presents ultrasound and gross morphology correlation of cyclopia in a resource limited setting, and a correlation between facial features, intra-cranial anatomy, and lifespan. We report a 39-year-old gravida 3 para 2 woman with a history of alcohol consumption who presented for her first antenatal checkup at 19 weeks of gestation. Ultrasound revealed a single lateral ventricle with fused thalami, absent orbital structures, and a midline cystic protrusion (proboscis). After thorough counseling, pregnancy was terminated, and cyclopia was confirmed on gross inspection. Karyotyping and fetal echocardiography were not done due to parental preference. Alobar holoprosencephaly, the most severe subtype, is diagnosed by identification of single ventricle and associated facial anomalies. Lobar holoprosencephaly, however, requires coronal imaging to demonstrate absence of cavum septum pellucidum and fusion of frontal horns. The severity of facial anomalies correlates with underlying brain malformations. Chromosomal anomalies, maternal diabetes, infections, and teratogenic exposures like alcohol are known risk factors. Differential diagnoses include proboscis lateralis, midline encephaloceles and frontonasal dysplasia. This case highlights the prognostic significance of facial and brain anomalies and diagnostic utility of prenatal ultrasound in diagnosing holoprosencephaly underscoring the necessity of timely prenatal visits. Definitive genomic studies were not feasible, but maternal alcohol consumption can be considered as a possible risk factor.

External hydrocephalus is a rare condition characterized by abnormal cerebrospinal fluid (CSF) accumulation in the subarachnoid space, often associated with developmental anomalies. Lobar holoprosencephaly, a milder form of holoprosencephaly, can manifest with hydrocephalus due to its impact on brain development and CSF dynamics. This case report describes a neonate with congenital external hydrocephalus secondary to lobar holoprosencephaly, highlighting the diagnostic imaging findings and management approach. A neonate presented with progressive macrocephaly, irritability, altered sensorium, and poor feeding. Antenatal ultrasound at 32 weeks of gestation revealed macrocephaly and hydrocephalus, leading to a cesarean delivery at 38 weeks. Physical examination showed an occipitofrontal circumference of 45 cm, exceeding the 97th percentile for age. Magnetic resonance imaging (MRI) revealed fused frontal horns of the lateral ventricles, hypoplasia of the posterior corpus callosum, and extensive extra-axial CSF accumulation compressing the brain parenchyma. The CSF collection showed complete suppression on FLAIR imaging, confirming its nature, and a cortical vein sign indicated an enlarged subarachnoid space rather than a subdural hygroma. A diagnosis of lobar holoprosencephaly with congenital external hydrocephalus was made. The patient underwent peritoneal shunting to alleviate intracranial pressure, significantly reducing head circumference to 38 cm. Postoperative recovery was uneventful, and the parents were counseled on genetic testing and long-term follow-up. This case underscores the importance of detailed neuroimaging in differentiating external hydrocephalus from other pathologies and highlights the role of surgical intervention in improving outcomes. Early diagnosis and a multidisciplinary approach are vital for managing complex congenital anomalies such as lobar holoprosencephaly.

Lobar holoprosencephaly (HPE) represents the mildest form of HPE, featuring an interhemispheric fissure extending along most of the entire midline, with the thalami remaining unfused. Lobar HPE is usually diagnosed in the prenatal stage or infancy; however, cases of adult-onset are exceedingly rare. Here, we present a 25-year-old patient who was presented with multiple episodes of seizures and was subsequently diagnosed with lobar HPE accompanied by a meningocele. By shedding light on this rare brain malformation, we hope to raise awareness among healthcare professionals and stimulate further research into the pathogenesis, clinical course, and management of adult-onset HPE.

Schizencephaly, an extremely rare anomaly of the cortex, is characterized by abnormal clefts in the cerebral cortex. Very often, this condition is diagnosed early in the childhood period but few instances exist in literature where schizencephaly-associated seizures and hemiparesis have presented later in life too. Here, we report a rare case scenario of a lady in her late 30s who initially presented to us with obstetric concerns wherein schizencephaly remained an incidental finding despite the significantly large cortical cleft along with lobar holoprosencephaly and lissencephaly.

To evaluate the role of a standardized first-trimester scan in screening different kinds of central nervous system malformations and to report a 3-year experience from a tertiary center using an unselected cohort. This was a retrospective analysis of prospectively collected data from a single center evaluating first-trimester scans with predesigned standardized protocols performed between 1 May 2017 and 1 May 2020, involving 39,526 pregnancies. All pregnant women underwent a series of prenatal ultrasound scans at 11-14, 20-24, 28-34 and 34-38 weeks of gestation. Abnormalities were confirmed by magnetic resonance imaging, postmortem examination or trained ultrasound professionals. Pregnancy outcomes and some postnatal follow-up were obtained from maternity medical records and telephone calls. A total of 38,586 pregnancies included in the study. The detection rates of CNS anomalies by ultrasound in the first, second, third and late third trimester were 32%, 22%, 25%, and 16%, respectively. And there were 5% of CNS anomalies missed by prenatal ultrasound. In the first-trimester scan, we diagnosed all cases of exencephaly, anencephaly, alobar holoprosencephaly and meningoencephalocele, and some cases of posterior cranial fossa anomalies (20%), open spina bifida (67%), semilobar holoprosencephaly (75%) and severe ventriculomegaly (8%). Vein of Galen aneurysmal malformation, closed spina bifida, lobar holoprosencephaly, intracranial infection, arachnoid cyst, agenesis of the corpus callosum, cysts of the septum pellucidum and isolated absence of the septum pellucidum were never detected during the first trimester. The abortion rates of fetal CNS anomalies detected by first-trimester scan, second-trimester scan, and third- trimester scan were 96%, 84% and 14%, respectively. The study showed that almost 1/3 of central nervous system anomalies were detected by the standard first-trimester scan and these cases were associated with a high rate of abortion. Early screening for fetal abnormalities gives parents more time for medical advice and safer abortion if needed. It is therefore recommended that some major CNS anomalies should be screened in the first trimester. The standardized anatomical protocol, consisting of four fetal brain planes, were recommended for routine first trimester ultrasound screening.