Bladder distention and pyelectasis in the male fetus: causes, comparisons, and contrasts

The objective of this paper was to determine if prenatal sonographic findings can accurately differentiate between the causes of bladder distention and pyelectasis in the male fetus. Twenty-one cases were evaluated for the presence of oligohydramnios, posterior urethral dilation, bladder wall thickening, urachal patency, cortical thinning, cortical cysts, and increased renal echogenicity. Postnatal diagnosis included posterior urethral valves (10 cases), prune belly syndrome (four cases), vesicoureteral reflux (four cases), left ureterovesical junction obstruction (one case), and nonrefluxing, nonobstructive megacystis-megaureter (two cases). Oligohydramnios was present in eight of 10 cases of posterior urethral valves and in one of four cases of prune belly syndrome. A dilated posterior urethra was noted in seven of 10 cases of posterior urethral valves and transiently in two of four cases of prune belly syndrome. Bladder wall thickening developed in all cases of posterior urethral valves and was noted in two of four patients with prune belly syndrome. A patent urachus likewise was identified in two of four cases of prune belly syndrome. The presence of oligohydramnios, progressive bladder wall thickening, and dilated posterior urethra was most suggestive of posterior urethral valves, whereas the presence of a patent urachus was most suggestive of prune belly syndrome. The presence of pyelectasis and megacystis without additional amniotic fluid, bladder, urethral, or renal abnormalities was most suggestive of vesicoureteral reflux, ureterovesical junction obstruction, or nonrefluxing, nonobstructive megacystis-megaureter. Owing to the overlap and evolution of these findings, close follow-up evaluation is recommended.     

Congenital deformities

Forty years ago Denis Browne wrote that the medical world was ignoring an important distinction among birth defects. There were, he said, a large group of abnormalities caused not by genetic errors or teratogens but simply by fetal constraint. These abnormalities, if recognized early, could be readily ameliorated with simple, conservative forms of therapy. Today the full range and frequency of deformations are still not well appreciated and yet the recognition of these deformities may be more important than ever. The public is becoming increasingly aware of environmental hazards and genetic risks to their unborn children. They know of the difficult problems faced by families when malformed children are born. The physician who can rapidly and accurately diagnose deformities treats a good deal more than the problems of aberrant fetal molding.     

Late reopening of patent ductus arteriosus after complete closure with the Rashkind prosthesis. Possible traumatic origin

We report a rare case of tracheal atresia, without fistula, in a 19 weeks' female fetus. The abnormality was detected by prenatal ultrasonography, which demonstrated a bilateral and uniform hyperechogenicity and enlargement of the lungs, associated with ascites and moderate oligohydramnios. We suggest that oligohydramnios may be helpful in distinguishing the upper respiratory tract obstruction from congenital cystic adenomatoid malformation of the lungs, type III. A morphometric study revealed a three-fold more dense pulmonary vasculature in comparison with two control cases of the same gestational age. The pathological finding of pulmonary and vascular hyperplasia as well as the pathophysiology of the syndrome are discussed.     

Home medical equipment suppliers: a critical home care partner. Interview by Sarah F Zarbock

Conventional management of gastroesophageal reflux (GER) and hiatus hernia in children affected with encephalopathy can deteriorate their pulmonary function, already compromised by their leaning position and their spine deformations. The results after laparoscopic surgery for GER in 6 encephalopathy children are reviewed; their ages ranged from 9 to 14 years, their accompanying diseases were: spastic tetraparesia, hydrocephalus, scoliosis, epilepsy and Reye's syndrome. The laparoscopy procedures followed the same surgical steps as open surgery; the surgical time was 3 to 5 hours; the average hospital stay was 3 days. Oral intake started 8 hours after surgery. The successful results of these first cases in this group of patients with neurologic anomalies, suggest that laparoscopic Nissen funduplication is the treatment of choice for GER and hiatus hernia.     

Sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts: a new syndrome?

We describe two sib fetuses with situs inversus, cystic dysplastic kidney and pancreas, bowing of the lower limbs and clavicles, severe intrauterine growth retardation (IUGR), and oligohydramnios. Early prenatal diagnosis of pancreatic and dysplastic renal cysts and situs inversus totalis were made in the 18-week-old fetus. This syndrome differs from that of Ivemark and related syndromes because of the presence of situs inversus totalis and absence of hepatic fibrosis and cysts. The parents were first cousins, and did not have any cysts of kidney, liver, or pancreas detected by ultrasonography.     

Epidemiology of idiopathic intracranial hypertension: a prospective and case-control study

Congenital deformities frequently produce problems not always discernible at birth. Often, a period of time is required for the development of signs and symptoms. The present discussion presents the intrauterine anatomy of a midterm fetus relative to conditions of the hip and thigh. Cryomicrotomy is used in this study to present the best anatomical evidence of the morphology involved.     

Anesthetic management of Seckel syndrome: a case report

Seckel syndrome is a rare syndrome of chromosome aberration, in which bird-headed dwarfism, microcephalus and other minor deformities are recognized. A 24-year-old male patient with Seckel syndrome underwent both abdominal and orthopaedic surgeries in 1 year under general anesthesia. The first operation was an emergent operation under preshock state and enterostomy was performed. The second was arthrodesis of the hip joint. Before the second operation, laryngeal CT, tomography and fiberscopy revealed stenosis just below his vocal cord. During the second operation, the anesthesia was unsatisfactory with inhalation of nitrous oxide and sevoflurane and intravenous vecuronium, because of intraoperative abnormal hypertension. But the recovery from the anesthesia was prompt. Although we experienced no difficulty in intubation except for intraoperative abnormal hypertension, preoperative laryngeal and renal examinations are necessary in the anesthetic management of this syndrome.     

Clinical importance of intramural blood vessels in the sino-atrial segment of the conducting system of the heart

The perinatal implications of oligohydramnios prior to 37 weeks of gestation, in the absence of intrauterine growth restriction (IUGR), rupture of membranes or fetal anomalies, are unknown. We compared the outcomes of 65 women with oligohydramnios (amniotic fluid index ([AFI] < or = 8 cm) by sonography to those of a control group matched by sonogram indication. Study patients were between 17 and 37 weeks of gestation, with appropriately grown fetuses on index sonogram and no other detected explanation for amniotic fluid abnormalities. Patients were managed expectantly with fetal testing and follow-up sonograms for fetal growth. Delivery was not recommended solely for oligohydramnios until 37 weeks of gestation. Patients with isolated oligohydramnios prior to 37 weeks of gestation, when compared to a control group with normal amniotic fluid volume, had a significantly higher incidence of premature delivery (odds ratio [OR] 3.23, 95% confidence interval [CI] 1.4-7.3) but did not appear to be at increased risk of IUGR, intrauterine death, or birth asphyxia.     

A risk-benefit assessment of growth hormone use in children

Growth hormone prepared by recombinant DNA technology (somatropin) has been commercially available for over 11 years. More than 38,000 children have been treated with different growth hormone products. While the best response to treatment occurs in children with severe growth hormone deficiency, therapy with growth hormone will increase the rate of statural growth in children with short stature of many different aetiologies. There are few studies of the effect of growth hormone treatment of final adult height, and the magnitude of this effect is harder to gauge, particularly in children with idiopathic short stature. Other benefits of growth hormone treatment in children include improvement in psychosocial functioning and physiological parameters, such as bone mineral density. Adverse effects associated with growth hormone treatment have been relatively uncommon. Most of the safety data on growth hormone have come from large postmarketing databases maintained by 2 pharmaceutical companies. The adverse event profile reported in children treated with growth hormone is different from that found in adults. Peripheral oedema and carpal tunnel syndrome, which are common in adults treated with growth hormone and frequently result in treatment discontinuation, are rare in children. Intracranial hypertension is rare, but can occur in children with growth hormone deficiency, Ullrich-Turner syndrome or renal insufficiency during the first 8 to 12 weeks after the start of growth hormone treatment; it has seldom been reported in adults with growth hormone deficiency. Children with growth hormone deficiency, Ullrich-Turner syndrome or renal insufficiency are prone to develop slipped capital femoral epiphyses both before and during growth hormone treatment. Therefore, limping and complaints of hip or knee pain should be carefully investigated.     

Late results after pulmonary middle lobe resections in childhood (author's transl)

15 of 19 children with typical middle-lobe syndrome were reinvestigated 4 to 10 years after surgical treatment. Morphological and functional alterations as a result of middle-lobe resection are of minor importance. The treatment of choice in childhood is the pulmonary lobe resection. Late effects of bronchiolitis follicularis are important because multifocal spread of infection seems to be possible.     

Diagnosis oligohydramnios-related pulmonary hypoplasia (Potter syndrome): value of portable voiding cystourethrography in newborns with respiratory distress

Potter renal nonfunctional syndrome is an association of facial and limb anomalies, pulmonary hypoplasia, and fetal renal anomalies which lead to marked oligohydramnios, including renal agenesis (true Potter syndrome), renal cystic dysplasia, and obstructive uropathies. Some infants survive long enough to develop severe respiratory distress secondary to pulmonary hypoplasia. The underlying renal disease is often noted only at autopsy. We studied four infants, only one of whom had clinical signs of the renal nonfunction syndrome. Portable voiding cystourethrography revealed a tiny bladder in three infants with cystic dysplasia kidneys (two of these infants had reflux into unused ureters). Bladder hypertrophy and vesicoureteral reflux secondary to posterior uretral valves were noted in the fourth infant.     

Pulmonary thrombo-embolism in nephrotic syndrome treated with tissue plasminogen activator

We describe the case of a boy with steroid sensitive nephrotic syndrome and left pulmonary artery thrombo-embolism. clinical presentation initially suggested sepsis and respiratory signs were minor. Treatment with tissue plasminogen activator infused into the pulmonary artery was successful. CONCLUSION: Pulmonary thrombo-embolism should be considered in unwell children with nephrotic syndrome.     

Management of premature rupture of membranes in a monofetal pregnancy before 28 weeks gestation

To establish appropriate management of premature rupture of the membranes before 28 weeks, we examined maternal and fetal risks in pregnancies complicated by this rare problem (1-7/1000). Three main factors were identified in such circumstances: prematurity, infection and oligohydramnios. Prematurity is inevitable and depends on three factors: gestational age at rupture of the membranes which is an independent predictor of poor prognosis before 22 weeks; gestational age at delivery as neonates born before 26 weeks gestation have an overall perinatal survival < 50%, and latency period between preterm rupture of the membranes and delivery which ranged from 1 to 161 days with a mean 7.8 days. Infection is the second factor with a high incidence (> 30%) of chorioamnionitis. The third factor is skeletal deformations and pulmonary hypoplasia predicted by severe and prolonged (> 14 days) oligohydramnios. Only about 40% of such women will take home a live baby. Successful outcome can be achieved in about 60% of these survivors. Termination of pregnancy is warranted at 22 weeks gestation or less and may be proposed. Beyond 22 weeks gestation, management is based on a wait-and-see attitude with ultrasonographic and bacteriological surveillance. After 25 weeks gestation, management becomes more active with use of antibiotics, tocolytics and steroids which can help prolong the latency period and improve fetal outcome. Ongoing counselling and psychological support are essential in the management of this morbid complication of pregnancy.     

Fibrous contracture of muscles following intramuscular injections in adults

Periarticular fibrous muscle contractures in adults from repeated injections in the same site is predictable. The causes of joint contracture in children are many and complex, but in adults it seems certain that this phenomenon is the result of repeated injections of analgesics or other agents into 1 muscle area. Any drug if repeatedly injected locally may cause fibrosis of the muscle and subsequent joint contracture. Five cases of bilateral abduction contracture of the shoulder in adults including the first case of bilateral abduction contractures of shoulder and hip plus bilateral flexion contracture of elbow and extension contracture of a knee are reported. No underlying disease which might predispose to this fibrosis of muscles was noted. The frequency and period of injections were variable over several years. In all patients the interference in activtities of daily living were serious, but the deformities were corrected by release of the fibrous band with relief of discomfort and restoration of joint motion without recurrence. Noting the potential complication of repeated intramuscular injections in one area, this practice should be avoided whenever possible in adults, as well as in children.     

Update on lymphoid interstitial pneumonitis

Lymphoid interstitial pneumonitis (LIP) involves a clinicopathologic pattern of pulmonary disease characterized by diffuse interstitial reactive lymphoid infiltrates. In adults, it occurs most commonly in autoimmune diseases, such as Sj?gren's syndrome (0.9% of these patients) and primary biliary cirrhosis, whereas in children it is usually seen in HIV infection. Dysproteinemias (hyper- and hypogammaglobulinemia) are found in more than 60% of patients. Children can show CD8-lymphocytosis in bronchoalveolar lavage fluid, lung tissue, peripheral blood, and salivary gland, associated with HLA-DR5 haplotype. Radiographically, most patients with LIP have reticulonodular infiltrates, with or without patchy areas of consolidation. CT scans can show both small nodular and ground glass patterns, patterns that are diagnostically nonspecific. Reduced lung volumes and diffusing capacities are consistent and sensitive indicators of disease in LIP. In an experimental model, diffusing capacity was the single most sensitive functional index of disease progression. Microscopically, LIP is part of a spectrum of pulmonary lymphoid proliferations, ranging from follicular bronchitis-bronchiolitis and pulmonary lymphoid hyperplasia (the latter in AIDS patients), proliferations largely limited to airways, to low-grade malignant lymphoma. These patterns may be difficult to differentiate from each other. It appears that LIP sometimes evolves to lymphoma; the frequency of this evolution is probably low but is difficult to assess because low-grade lymphomas may mimic LIP. A relatively high frequency of LIP patients have Epstein-Barr virus DNA in their lungs but not all patients with LIP show this finding, suggesting other possible etiologies.     

Primary care of infants and young children with Down syndrome

Down syndrome is caused by triplicate material of chromosome 21. The syndrome has a variable physical expression, but congenital cardiac defects, transient myelodysplasia of the newborn and duodenal atresia are highly specific for this chromosomal disorder. Routine health maintenance is important because infants and children with Down syndrome are more likely to have otitis media, thyroid disease, congenital cataracts, leukemoid reactions, dental problems and feeding difficulties. Since infants with this syndrome are prone to respiratory infections, immunization recommendations should be followed closely. Motor, language, social and adaptive skills should be assessed at each office visit. The psychosocial aspects of care should be discussed with the parents of an infant with Down syndrome. If necessary, the parents should be referred to family support and specialty resources. Institutionalization of infants with Down syndrome is now unlikely. With newer surgical techniques, early therapy to minimize developmental delay and proper health supervision, the functional prognosis for infants with Down syndrome is considerably improved.     

A familial case with generalized resistance to thyroid hormones

BACKGROUND: The syndrome of generalized resistance to thyroid hormones is more frequent than was thought. CASE REPORTS: A 13-year old girl was examined for her short stature. Evaluation of her thyroid function showed increased levels of IT3 and IT4 and normal value of TSH; she also had mosaic Turner's syndrome. Her cousin was rapidly diagnosed as suffering from the same syndrome because of moderately high thyrotropic levels found during neonatal screening; this syndrome was confirmed by molecular biology tests. Five generations of this family were identified as being affected with a pattern indicating autosomal dominant inheritance. CONCLUSION: The clinical manifestations of familial generalized resistance to thyroid hormones vary but this syndrome is easy to biologically confirm. The importance of diagnosing affected children as early as possible should be emphasized, as in such cases their development must be closely monitored particularly where their growth and neurodevelopment are concerned.     

0.9% sodium chloride injection with and without heparin for maintaining peripheral indwelling intermittent-infusion devices in infants

PURPOSE: Tachypnea in children is associated with respiratory disorders and nonrespiratory disorders such as cardiac disease, metabolic acidosis, fever, pain, and anxiety. Pulmonary embolism is seldom considered by pediatricians as a cause of tachypnea. PATIENTS AND METHODS: Three children of various ages with persistent tachypnea are described: a girl after orthopedic surgery for kyphoscoliosis, a boy with nephrotic syndrome, and a neonate with Hirschsprung disease. Other causes of tachypnea were diagnosed and treated before pulmonary embolism was considered. RESULTS: Ventilation-perfusion scanning appeared to be highly probable for pulmonary embolism in these patients. Anticoagulant therapy was started. CONCLUSION: Pulmonary embolism should be kept in mind in children with tachypnea, especially when other risk factors for venous thromboembolism are present, to avoid delay in anticoagulant treatment and a fatal outcome.     

Congenital constriction band syndrome. Pathophysiology and treatment

The clinical manifestations of 88 children with congenital constriction band syndrome involvement of the hand were reviewed. Seventy-five of these children had evidence of digital or limb amputations, with 235 upper limb amputations and 138 lower limb amputations. In the hand, digital amputations were most common in the index, middle, and ring fingers, whereas in the foot, amputations of the hallux were most often noted. Band indentation was often present at multiple levels. Proximal bands may be associated with neural compression. Syndactyly was invariably associated with a proximal interdigital sinus or cleft and was frequently associated with distal amputation. Examination of a 27-week gestation stillborn specimen having manifestations of congenital constriction band syndrome demonstrated the intrauterine biologic response to band constriction. The variable clinical manifestations of congenital constriction band syndrome can best be explained as the response of the growing, embryologically defined limb to intrauterine deformation or band-induced compression and ischemia.