1/134. Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, especially those patients with the salt-losing form, have decreased fertility rates. pregnancy experience in this population is limited. We report the pregnancy outcomes and serial measurements of maternal serum steroid levels in four women with classic 21-hydroxylase deficiency, three of whom were female pseudohermaphrodites with the salt-losing form. These glucocorticoid-treated women gave birth to four healthy female newborns with normal female external genitalia, none of whom were affected with 21-hydroxylase deficiency. In three women, circulating androgen levels increased during gestation, but remained within the normal range for pregnancy during glucocorticoid therapy. In the fourth patient, androgen levels were strikingly elevated during gestation despite increasing the dose of oral prednisone from 5 to 15 mg/day (two divided doses). Notwithstanding the high maternal serum concentration of androgens, however, placental aromatase activity was sufficient to prevent masculinization of the external genitalia of the female fetus and quite likely the fetal brain, consistent with the idea that placental aromatization of androgens to estrogens is the principal mechanism that protects the female fetus from the masculinizing effects of maternal hyperandrogenism. These four patients highlight key issues in the management of pregnancy in women with 21-hydroxylase deficiency, particularly the use of endocrine monitoring to assess adrenal androgen suppression in the mother, especially when the fetus is female. Recommendations for the management of pregnancy and delivery in these patients are discussed.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/134. Cerebral malformation associated with metabolic disorder. A report of 2 cases.A clinical and neuropathological study is presented of two cases each of which showed neuronal heterotopia. Microgyria was also present in one case. One patient was suffering from a degenerative disorder affecting the white matter. The other was a case of Menkes' disease. It is suggested that the antenatal damage may have been caused by an imbalance of the maternal metabolism, the predisposing factor being the mother's carrier state for a metabolic defect. This is the first report of teratogenesis in a case of Menkes' disease. It is also noted that in this case there is interference with the postnatal as well as the antenatal development of the brain.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
3/134. Anaesthetic management of a woman who became paraplegic at 22 weeks' gestation after a spontaneous spinal cord haemorrhage secondary to a presumed arteriovenous malformation.A 19-yr-old woman developed a paraplegia with a T10 sensory level at 22 weeks' gestation. The spinal injury was caused by spontaneous bleed of a presumed arteriovenous malformation in the spinal cord. She presented for Caesarean section at term because of the breech position of her fetus. The successful use of a combined spinal epidural-regional anaesthetic is described and the risks of general and regional anaesthesia are discussed.- - - - - - - - - - ranking = 846.81497862152keywords = haemorrhage (Clic here for more details about this article) |
4/134. Disseminated intravascular meconium in a newborn with meconium peritonitis.A 3-day-old premature infant with meconium peritonitis, periventricular leukomalacia, and pulmonary hypertension died with respiratory insufficiency. An autopsy disclosed intravascular squamous cells in the lungs, brain, liver, pancreas, and kidneys. Numerous pulmonary capillaries and arterioles were occluded by squamous cells, accounting for pulmonary hypertension. Brain parenchyma surrounding occluded cerebral vessels showed infarct and gliosis. A mediastinal lymph node filled with squamous cells alluded to the mechanism by which these cells from the peritoneal cavity likely entered the bloodstream--namely, via diaphragmatic pores connecting with lymphatics. Thus, disseminated intravascular meconium rarely may complicate meconium peritonitis and have devastating consequences.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
5/134. A patient with cerebral palsy whose mother had a traffic accident during pregnancy: a diffuse axonal injury?A 16-year-old girl had spastic cerebral palsy (CP) with triplegia and focal epilepsy. The patient's past history included her mother's lower abdominal trauma caused by a traffic accident at the 7th month of gestation. Brain examination with magnetic resonance imaging (MRI) revealed encephalomalacia at the bilateral parieto-temporal lobes and the left caudate nucleus, segmental narrowing of the splenium of the corpus callosum, dilatation of the left lateral ventricle and an abnormally high intensity at the right posterior portion of the internal capsule. These findings might indicate a diffuse axonal injury (DAI), but not an asphyxic brain damage. In this patient, CP might be caused by an intrauterine DAI when her mother was involved in the accident.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
6/134. Outcome of a baby born from a mother with acquired juvenile hypothyroidism having undetectable thyroid hormone concentrations.We report a baby born from a mother with strongly positive thyroid stimulation blocking antibody (TSBAB) and nearly undetectable T4 level. This case is a unique model of nearly complete absence of thyroid hormones during fetal and early neonatal life in humans. The infant girl was born by cesarean section, because of fetal bradycardia, after 41 weeks gestation and received mechanical ventilation for 3 days. The TSH level was more than 120 microU/mL in the neonatal thyroid screening. At age 17 days, the results of a thyroid function study showed undetectable free T3 and free T4 concentrations, TSH 550 microU/mL, and TSH receptor antibody (TRAB) 87%. thyroxine at a dose of 30 microg/day was started at age 17 days. The patient required thyroxine treatment until age 8 months. The brain magnetic resonance image at age 2 months revealed reduced brain size. Her auditory brain stem response was absent at age 2 months. The audiogram at age 4 yr revealed sensorineural deafness of 70 dB. When she was 6 yr of age, motor development remained the same as that at age 4 months. Her height was 106 cm (- 1.5 SD). The results of thyroid function study of the mother 23 days after delivery showed undetectable free T3 and free T4, TRAB 84%, and TSBAB 83%. In conclusion, the outcome of severe thyroid hormone deficiency in utero and early in human neonatal life was normal physical growth, fetal distress resulting in cesarean section, difficulty in the onset of breathing, permanent deficit in auditory function, brain atrophy, and severely impaired neuromotor development despite the start of an adequate dose of thyroxine replacement during the neonatal period.- - - - - - - - - - ranking = 4keywords = brain (Clic here for more details about this article) |
7/134. Radial microbrain form of micrencephaly: possible association with carbamazepine.A premature infant exposed to carbamazepine in utero had a markedly undersized brain on cranial ultrasonogram. Postmortem examination of the brain revealed no evidence of hypoxic-ischemic injury, hemorrhage, infarction, congenital infection, or calcification. The normal cortical gyral pattern, normal residual germinal matrix, and normal cortical lamination suggested the diagnosis of a radial microbrain form of micrencephaly.- - - - - - - - - - ranking = 7keywords = brain (Clic here for more details about this article) |
8/134. Report on intrauterine drug exposure during second trimester of pregnancy in a heroin-associated death.A 17-year-old girl was found dead in a public toilet with fresh needle puncture marks. She was 18-20 weeks pregnant with a male fetus. Drug screening of her blood and urine indicated recent heroin use. Chronic drug use was confirmed by hair analysis. amniotic fluid as well as fetal and maternal tissues and body fluids were analyzed by GC/MS and HPLC. All the fetal specimens were investigated, and the following levels of drugs were found: 6-monoacetyl-morphine (blood: 152 ng/g; amniotic fluid: 128 ng/g; brain: 140 ng/g; lung: 110 ng/g; liver: 2 ng/g; kidney: 40 ng/g), morphine (blood: 1360 ng/g; amniotic fluid: 604 ng/g; brain: 710 ng/g; lung: 1030 ng/g; liver: 2060 ng/g; kidney: 1100 ng/g), codeine (blood: 70 ng/g; brain: 60 ng/g; lung: 60 ng/g; liver: 90 ng/g; kidney: 70 ng/g), and morphine-3-glucuronide (amniotic fluid: 209 ng/g; brain: 170 ng/g; lung: 325 ng/g; kidney: 231 ng/g). morphine-6-glucuronide was present in the maternal circulation but could not be detected in the fetal circulation.- - - - - - - - - - ranking = 4keywords = brain (Clic here for more details about this article) |
9/134. Haemorrhage into non-functioning adrenal cysts--report of two cases and review of the literature.Adrenal cysts are a rare condition and are usually non-functioning and asymptomatic. Most of the reported cases were incidental findings or discovered at autopsy. However, large cysts have a tendency to develop complications such as intracystic haemorrhage and rupture, which can present as an acute surgical emergency. We report two cases of adrenal cysts with intracystic haemorrhage. One patient presented with persistent non-specific upper abdominal pain, investigations with ultrasound (US) scan and computed tomographic (CT) scan revealed a left adrenal cyst and gallstones. Simultaneous cholecystectomy and adrenalectomy was performed with resultant relief of symptoms. The second patient presented with acute abdominal pain simulating acute surgical abdomen. Preoperative CT scan showed a large cystic lesion in the region of the tail of the pancreas with radiological evidence of haemorrhage but was unable to confirm its origin. The cyst was found to have arisen from the left adrenal gland at laparotomy; left adrenalectomy with complete excision of the cyst was done. histology showed pseudocyst with haemorrhage in both cases. Pseudocyst is the commonest histological type encountered clinically. We believe the second case is related to pregnancy and childbirth as the patient presented during puerperium and the cyst, even though very large in size (25 x 15 x 15 cm), was not noted during antenatal screening with US scan.- - - - - - - - - - ranking = 846.81497862152keywords = haemorrhage (Clic here for more details about this article) |
10/134. Gestational thyrotoxicosis with acute wernicke encephalopathy: a case report.A 35-year-old hyperthyroid woman who developed nausea, vomiting, tachycardia, nystagmus and mental disturbance, was referred to our hospital with a suspected diagnosis of thyroid storm. However, the thyroid gland was only slightly palpable, bruits were not audible, and exophthalmos was not present. serum levels of thyroid hormone were increased, but TSH receptor antibodies were negative. Echography and color flow doppler ultrasonography revealed a slightly enlarged thyroid gland and a slightly increased blood flow, both of which were much less milder than those expected for severe hyperthyroid Graves' disease. Under the diagnosis of hyperthyroidism due to gestational thyrotoxicosis associated with wernicke encephalopathy, vitamin B1 was administered on the first day of admission. Her consciousness became nearly normal on the second day except for slight amnesia. Her right abducent nerve palsy rapidly improved, but horizontal and vertical nystagmus, diminished deep tendon reflexes and gait ataxia improved only gradually. MRI findings of the brain were compatible with acute wernicke encephalopathy. We concluded that history taking and physical findings are important to make a differential diagnosis of gestational thyrotoxicosis with acute wernicke encephalopathy from Graves' thyroid storm, and that wernicke encephalopathy should be treated as soon as possible to improve the prognosis.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
| | Next -> |