Biomedical subjects
Publications and source records attributed to A Toi.
Lissencephaly, hydrocephalus, and eye abnormalities characterize patients with the Walker-Warburg syndrome, an uncommon autosomal recessive condition. Encephaloceles occur in about 50% of patients. We describe the prenatal diagnosis of this condition based on the ultrasonographic findings of retinal detachment, hydrocephalus, and an encephalocele in a fetus not known to be at risk.
Explore the source record for details and available documents.
Fetal nuchal thickening in the second trimester is suggested as an ultrasonographic sign strongly suggesting the presence of Down syndrome. To better understand this potentially valuable observation, we explored aspects of the finding not considered in previous reports. The published data were reanalyzed to estimate statistically the presence of the sign in a low-risk obstetric population. Second, films of chromosomally normal fetuses were reviewed to confirm the normal range of measurement. Finally, autopsy reports of aborted Down syndrome fetuses were reviewed. Our results confirm that true nuchal thickening is present in some second-trimester Down syndrome fetuses. Unfortunately, a positive sign occurs in a significant proportion of chromosomally normal fetuses. Also our calculations predict a high incidence of false positive results in a low-risk obstetric population. Consequently we urge caution in the interpretation of these findings until prospective characterization of these observations is available.
Ultrasonography is rapidly replacing radiological techniques of gallbladder investigation. While ultrasonography is highly accurate, there are technical, anatomical and diagnostic pitfalls which will trap the unwary. This presentation highlights the pitfalls which we have encountered, reviews the literature in this area and suggests techniques whereby these pitfalls may be avoided.
Explore the source record for details and available documents.
A female infant with Kaufman-McKusick syndrome redeveloped respiratory distress and abdominal distention at 5 weeks of age. Ultrasonography demonstrated recurrence of peritoneal cysts and hydrometrocolpos. It is postulated that refluxing vaginal secretions may contribute to the abdominal distention seen in many infants with Kaufman-McKusick syndrome.
Iliopsoas abscess is a rare but serious complication of Crohn's disease. Initial treatment by surgical drainage of the abscess alone or in combination with bowel resection has been recommended. Percutaneous catheter abscess drainage (PAD) has not been described. We report 3 patients with this uncommon complication of Crohn's disease in whom PAD was attempted. It was successful in 2 cases but failed in 1, who went on to have the abscess drained surgically. We suggest that PAD can be a useful initial treatment to improve the patient's condition prior to definitive surgical resection.
The appearance of normal septal veins on cranial sonography is described. Septal veins are part of the deep cerebral (galenic) venous system. Improved technology allows these structures to be identified as they course in the walls of the cavity of the septum pellucidum (cavum septi pellucidi). These veins are normal structures that should not be misinterpreted as pathologic ventricular septations, calcifications, or evidence of prior intracranial hemorrhage.
We report an 18-month-old girl who was referred with urinary tract and colonic obstructions secondary to a large spherical rectal duplication cyst. Computed tomographic guided percutaneous drainage provided temporary relief of both urinary and colonic obstructions prior to definitive surgery.
Cystic adenomatoid malformation is a rare congenital pulmonary anomaly. We report an antenatal diagnosis by ultrasonography and discuss the differential diagnosis.
We report three patients in whom hydronephrosis was diagnosed by ultrasonography in utero. In two fetuses, ureteroceles were detected prenatally and these proved to be the cause of obstruction. In the third, bilateral simple ureteroceles were discovered immediately after birth. In the last patient, failure to see ureteroceles in utero may have been related to the phenomenon of ureterocele eversion and prolapse into the ureter. Ultrasonographers should be aware of this prolapse phenomenon as a potential pitfall for both the in utero and postpartum diagnosis of ureterocele.
Three sets of conjoined twins recently diagnosed by us in the antenatal period are presented. From these cases and a review of the literature we present the ultrasound diagnostic features of the various forms of this rare condition. We discuss the importance of associated anomalies and shared organs with their relevance to subsequent antenatal management and delivery. The importance of excluding this condition whenever twins are diagnosed on ultrasound is stressed.
The ultrasound appearance of placental chorioangioma is described. The deleterious effects of this tumor on the mother and fetus are reviewed.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
1. Eighty unselected hypertensive subjects were investigated at a cost of $78.00 per patient, in a short out-patient study programme. Seven (9%) were found to have a cause for their hypertension; incidental abnormalities were found in twenty-two (28%). 2. The combination of clinical selection and planned out-patient investigation should detect all patients with secondary hypertension.