Optic nerve aplasia: A case series

Optic nerve aplasia (ONA) is a congenital optic nerve anomaly characterized by the absence of optic nerve head, retinal blood vessels, retinal ganglion cells, and optic nerve fibers in a malformed eye. Clinically, the condition presents with the absence of perception of light, afferent pupillary defect and a fundus appearance of absent optic nerve head, and retinal vessels with associated ocular and nonocular abnormalities. Systemic anomalies have been reported with bilateral ONA, whereas unilateral ONA is seen in otherwise healthy individuals. We report three cases of ONA with varied clinical presentations.

Significance of prenatal radiologic diagnosis of the central nervous system anomalies / 대한주산의학회잡지

OBJECTIVE: The present study compared the findings of ultrasonography and MRI in the prenatal diagnosis of congenital central nervous system anomalies and identified the merits of MRI. METHODS: We retrospectively analyzed the medical records of neonates diagnosed with congenital central nervous system anomaly after birth born at the Department of Obstetrics and Gynecology in Kangnam St. Marys Hospital during the period from January 1997 to April 2008, and compared the findings of prenatal ultrasonography and MRI with the results of postnatal diagnosis. RESULTS: There were a total of 13 neonates postnatally diagnosed with congenital central nervous system anomaly, and 6 of them had prenatal MRI. Among them, ventriculomegaly and hydrocephalus were observed in 3 cases, arachnoid cyst in 2 cases, and megacisterna magna in 1 case. Supplementary information was available for all the 6 cases, and diagnosis based on the supplementary information was closer to postnatal diagnosis. CONCLUSION: In fetuses in which congenital central nervous system anomaly is observed in ultrasonography, prenatal MRI can provide supplementary information and enable more accurate diagnosis. This can be helpful in counseling the guardians and deciding treatment modality.

Clinical Study of the Central Nervous System Anomalies by Antenatal Ultrasonography / 대한주산의학회잡지

OBJECTIVE: To determine the proportion and the types of CNS anomalies among congenital anomalies detected through prenatal ultrasonography. MATERIALS AND METHODS: Between November 1997 and December 2000, 624 cases of singleton pregnancies were terminated at Department of Obstetrics and Gynecology, CHA Hospital due to lethal congenital anomalies detected through prenatal ultrasound. Forty-three of 624 termination cases had CNS anomalies. Autopsy and chromosomal study was carried out on ten and six cases respectively. Incidence, maternal age and parity, sex ratio and body weight of the terminated fetuses, gestational age at which anomaly was detected, associated anomalies were evaluated. RESULTS: The incidence of CNS anomalies was 0.21%(43 in 20,805), and maternal age was between 30 and 34 in 20cases. The fetus was male in 25 cases, female in 11 cases and indefinite in 7 cases. Anomalies were detected between 17-20 weeks in 12 cases. Body weights of the terminated fetuses were below 500grams in 23 cases. Anencephaly was the most common with 11 cases(25.6%), hydrocephalus ranked second with 8 cases(18.6%). Two cases had associated anomalies of Meckel-Gruber syndrome features. CONCLUSION: CNS anomalies are frequent and have a severe prognosis. Contemporary ultrasound is much accurate in evaluating CNS anomalies. Still, minor anomalies and those cases without associated anomalies are difficult to detect. Even after diagnosis, CNS anomalies are mostly void of prenatal corrective treatment. Fortuitous investigation is needed for prenatal neural axis anomaly detection.