Successful treatment of recurrent non-immune hydrops secondary to fetal hyperthyroidism.

BACKGROUND: Non-immune fetal hydrops is a heterogeneous disorder with a mortality rate of 50-98%. Resolution of non-immune fetal hydrops is rare but has been reported to occur spontaneously or after targeted therapeutic measures. CASE: A euthyroid gravida with Graves disease presented with a history of three prior perinatal deaths between 26 and 28 weeks' gestation, all associated with fetal hydrops. In the current pregnancy, the fetus developed hydrops at 24 weeks' gestation. Fetal hyperthyroidism, with high-output cardiac failure, was diagnosed with fetal blood sampling. After maternal therapy with propylthiouracil, resolution of the non-immune hydrops were documented and a healthy neonate subsequently delivered to term. The neonate developed transient hyperthyroidism after delivery, which required treatment for 10 weeks. CONCLUSION: Non-immune hydrops occurring as a result of fetal hyperthyroidism with high output cardiac failure is treatable with propylthiouracil.

Disseminated mucormycosis: report of a successfully treated immunosuppressed child with clinical, radiographic and pathological findings.

Disseminated mucormycosis is an uncommon condition with a high mortality rate and is infrequently diagnosed ante mortem. It is most frequently seen in immunosuppressed patients who are at risk for other unusual infections. The radiological features are not specific. We report the case of a 12-year-old girl in second haematological remission who was successfully treated for a brain abscess due to cerebral mucormycosis and for mucormycosis of the kidney which presented as a pyelonephritis. In her first haematological remission she was diagnosed as having a non-specific pneumonitis, which in retrospect may have been due to mucormycosis. Early diagnosis and appropriate management are associated with improved prognosis and require an awareness of the infection and a high index of suspicion.

Neural arch tuberculosis: a morbid disease. Radiographic and computed tomographic findings.

We have reviewed the clinical features, together with the radiographs and computerised tomography, in 9 patients with tuberculosis of the vertebral body and neural arch. All presented with paraparesis or paraplegia. The morbidity associated with this disease is so serious that it is essential to have an accurate means of evaluating the lesion as early as possible. Routine radiographs can only indicate the level of the disease and the loss of disc space, but cannot define the full extent of the lesion. Computed tomography shows details of the tuberculous involvement of the neural arch, as well as the vertebral body and spinal canal; the site and extent of the soft tissue lesions can also be seen. This is essential for evaluation of the neural arch involvement which will enable the clinician to select the appropriate treatment, and so prevent neurological complications.

Diagnosis and management of paediatric brainstem gliomas.

A review of paediatric brainstem gliomas (BSGs) treated in the Department of Radiation Oncology of the University of the Witwatersrand teaching hospital group is presented. Eleven patients between the ages of 4 years and 9 years were seen in the period 1982-1992. Of these cases, 9 were diffuse, 1 focal and 1 exophytic; the radiological features classifying these primary brainstem tumours are described. The survival from initiation of treatment was longest for the exophytic type BSG (72 weeks), while little difference in survival between the 9 diffuse type BSGs (mean 21.5 weeks) and the single focal type BSG (21 weeks) was found. The treatment is described and the role of hyperfractionated radiotherapy is reviewed.

Projections of inpatient admissions to specialty mental health organizations: 1990 to 2010.

OBJECTIVE: To help predict changes in patterns of service delivery, the total number of inpatient admissions to specialty mental health organizations and the number of elderly persons (over age 65) admitted were projected in five-year intervals between 1990 and 2010. METHODS: One set of projections is based on 1986 rates of use and their coefficients of variation. A second, more accurate, set is based on 1990 rates derived from logarithmic projections of trends from 1980 to 1986 and the coefficients of variation for the 1986 rates. RESULTS: Projections based on 1990 rates show an increase of more than 25 percent in the total number of inpatient admissions to all specialty mental health organizations between 1986 and 2010 and an increase of more than 40 percent in elderly admissions. Nonfederal general hospitals are expected to have the largest increases in the number of total admissions, and state and county mental hospitals the smallest. The greatest percentage growth in total admissions will occur in private psychiatric hospitals. For elderly persons, inpatient admissions to Veterans Affairs medical centers will show the largest percentage increase, and admissions to state and county mental hospitals the smallest. By 2010 the majority of elderly admissions (67.6 percent) will be to nonfederal general hospitals. CONCLUSIONS: Plans to cope with increased demand for inpatient services should take into account the potential economic consequences of the forecasted changes as well as their effects on allocation of and access to services.

In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy.

Deoxyribonucleic acid techniques can be used to diagnose Duchenne muscular dystrophy prenatally in male fetuses that are at risk. Deoxyribonucleic acid-based prenatal diagnosis can be impossible when there is only one prior affected male and there is no identifiable deletion or alteration. We performed fetal muscle biopsy in utero in such a case and documented the presence of dystrophin, thereby confirming normality in a male fetus at risk. This first in utero experience adds fetal muscle biopsy to the available procedures for fetal tissue diagnosis.

Sequential invasive assessment of fetal renal function and the intrauterine treatment of fetal obstructive uropathies.

Persistent fetal lower urinary tract obstruction carries a very poor prognosis secondary to damaged renal capacity and oligohydramnios, with its related pulmonary hypoplasia. Several attempts in the past several years to divert urinary flow via an intrauterine shunt have generally been disappointing, primarily because of poor patient selection. In this study we report our experiences with aggressive decompression of megacystis in 11 patients, the value in selected cases of sequential evaluations of fetal urine biochemistry, and the success of intrauterine bladder shunting procedures in appropriately chosen patients. Our data suggest that a single fetal urine determination may be insufficient to declare irreversible damage. Following decompression, improvement in urine biochemistry or its lack may be more likely representative of ultimate outcome. Decompression by either needle aspiration or intrauterine shunting is warranted in carefully selected cases and can save fetuses that are otherwise very likely doomed.

Midtrimester diagnosis and anomalies in the dup(22q) syndrome: correlation of aneuploidy with low maternal serum alpha-fetoprotein and oligohydramnios.

We present the first reported case of prenatally diagnosed dup(22q) syndrome in a 20-year-old woman referred for genetic counseling because of a low maternal serum alpha-fetoprotein value. An ultrasound study at 22 weeks demonstrated oligohydramnios, intrauterine growth retardation, multiple facial malformations, and a cardiac defect. Fetal karyotype was 46, XYdup(22)(pter----q13:: q12----qter) by amniocentesis. Necropsy following pregnancy termination confirmed all prenatally delineated anomalies. Comparison is made with the complete and partial proximal dup(22q) syndromes. We emphasize the correlation between aneuploidy and the presence of low maternal serum alpha-fetoprotein, oligohydramnios, and midgestational intrauterine growth retardation.

Genetic diagnosis in the first trimester: the norm for the 1990s.

Increasing technical capabilities and patient motivation for earlier and more private prenatal genetic diagnosis have allowed us to alter the concept of first-trimester genetic diagnosis from being rare to routine in our tertiary Reproductive Genetics Center. As public awareness of available services has increased, we have seen steadily increasing numbers and proportion of patients who are referred by their physicians earlier, who schedule tests earlier, opting to have earlier testing, and accept slightly higher risks in return for earlier results and privacy. Analysis of our clinical and laboratory results and complication rates suggests that first-trimester genetic diagnosis by either chorionic villus sampling or early amniocentesis may be offered to virtually all patients who would be candidates in the midtrimester. We believe that this trend will accelerate, making first-trimester diagnosis the norm, rather than the exception, for the 1990s.

The natural history of prenatally diagnosed cerebral ventriculomegaly.

Intrauterine treatment of fetal cerebral ventriculomegaly has been largely abandoned, as the results have been disappointing compared with those of standard neonatal treatment. However, we suggest that the natural history of ventriculomegaly diagnosed in utero has not been studied adequately and that fetal surgery may have a role in selected patients. We have analyzed the outcome in 43 cases of fetal ventriculomegaly followed up without active treatment in utero. Our data suggest that the prognosis is poor for fetuses with ventriculomegaly and coexistent malformations, good for those with isolated, nonprogressive ventriculomegaly, and variable for those with progressive, isolated ventriculomegaly.

First trimester diagnosis and early in utero treatment of obstructive uropathy.

The earliest diagnosis and treatment of obstructed fetal bladder is reported. Placement of vesico-amniotic shunt at 14.5 weeks of gestation enabled preservation of bilateral renal function and maintenance of normal amniotic fluid volume with normal pulmonary development. The shunt functioned adequately for more than 12 weeks. At birth, a mild 'prune' belly was the only deformity noted.

A normal ultrasound does not obviate the need for amniocentesis in patients with elevated serum alpha-fetoprotein.

Elevated levels of maternal serum alpha-fetoprotein (MSAFP) will identify a population at increased risk for specific congenital malformations, which are accurately diagnosed by amniotic fluid AFP and acetylcholinesterase. The risk for spontaneous abortion related to amniocentesis, combined with increasing confidence in the accuracy of ultrasound diagnosis, has caused us to question the need for amniocentesis in the diagnostic workup of pregnancies complicated by elevated levels of AFP in maternal serum. A retrospective study of 257 pregnancies evaluated for elevated serum AFP levels revealed 16 fetal malformations diagnosed by amniotic fluid AFP and acetylcholinesterase. Only 12 of these malformations were diagnosed on the initial ultrasound study. All malformations were diagnosed when ultrasound examination was repeated for increased acetylcholinesterase activity. Earlier gestational age at scanning, smaller defects, and pure technical failure were implicated as causes of misdiagnosis. The rate of fetal malformations identified in this high-risk population (6.23%) and the rate of ultrasound misdiagnosis (1.5% of the population with elevated levels of MSAFP) imply that amniocentesis should still be considered an essential part of the diagnostic workup in these situations.