Puberty stage and spontaneous descent of acquired undescended testis: implications for therapy?

We assessed spontaneous descent of acquired undescended testis (UDT) at puberty. 299 Boys (aged 1.2-16.5 years, mean 9.4) with 350 acquired-UDT were examined annually during a 12.6-year period (mean 3.1). An acquired-UDT was defined as a previously intrascrotal testis which can no longer be manipulated into a stable scrotal position. Each year, position of the testis and pubertal development according to Tanner's stages were assessed. Early puberty was defined as puberty stage G2 (testicular volume 4-9 mL), mid-puberty as puberty stages G3 (testicular volume 10 mL) and G4 (testicular volume 11-15 mL), and late puberty as puberty stage G5 (testicular volume >15 mL). Follow-up was completed if spontaneous descent had occurred, if mid-pubertal orchidopexy (ORP) had to be performed, if the boy was lost for follow-up, or if pre-pubertal ORP was performed in another hospital. In 139 boys with 164 acquired-UDT follow-up was meanwhile completed. Twelve boys with 14 UDT were lost for follow-up. In an additional 16 boys with 21 UDT, ORP was performed in another hospital. In 98 of the remaining 129 (76.0%) acquired-UDT spontaneous descent at puberty occurred. Mean follow-up was 2.5 years (range 0.2-8.5). In 70 of 98 testes (71.4%) descent occurred in early puberty, in 26 of 98 testes (26.5%) in mid-puberty, and in two testes in late puberty. In 31 of 129 testes (24.0%) ORP had to be performed at mid (30 cases) or late (one case) puberty. In this series, 98 of 129 acquired-UDT (76.0%) descended spontaneously at puberty, whereas in 31 of 129 (24.0%) pubertal ORP was performed. If ORP is postponed until puberty stage G3 (testicular volume of 10 mL) three of four acquired-UDT will descend spontaneously.

Congenital deficiency of factor XIII caused by two missense mutations in a Dutch family.

We present the clinical, biochemical and genomic findings of a family with congenital factor XIII (FXIII) deficiency. Congenital FXIII deficiency is a very rare autosomal recessive bleeding disorder, characterized by umbilical cord bleeding at birth and spontaneous intracranial haemorrhage. Routine clotting tests are normal, which may delay the diagnosis, leading to an increased chance of severe sequelae. The propositus and her brother, known with haemorrhagic diathesis, were found to be compound heterozygous with a known missense mutation (1050 G --> T transversion in exon 7, Val316Phe substitution) and a novel mutation 889 G --> A in exon 6, which predicts a Gly262Glu substitution. As these mutations were known in the family, DNA obtained from cord blood of the youngest sister was analysed for mutations in exons 6 and 7 only. We postulate that the diagnosis was facilitated by determining the two different mutations in the genotype of this family. The analysis showed that she was heterozygous for the exon 7 mutation. Hence, she was not at risk of experiencing haemorrhagic diathesis. This diagnosis avoided the administration of FXIII concentrate to the newborn.

[From gene to disease: basal cell naevus syndrome]. / Van gen naar ziekte; basaalcelnaevussyndroom.

Nevoid basal cell carcinoma syndrome (NBCCS, basal cell naevus syndrome, Gorlin syndrome) is an autosomal dominant disorder, caused by mutations in the PTCH gene mapped to chromosome 9q22.3. It is characterised by multiple basal cell carcinomas, keratocysts of the jaws, palmar and plantar pits, cerebral ectopic calcification and several skeletal anomalies. Occasionally, patients with NBCCS develop other neoplasms, particularly medulloblastomas and ovarian fibromas, indicating that the PTCH gene is a tumor-suppressor gene. Early recognition and careful follow-up are needed. Guidelines for managing these patients are presented.

[Diagnostic image (202). A newborn with subfebrile temperature and skin lesions. Staphylococcal scalded skin syndrome]. / Diagnose in beeld (202). Een pasgeborene met subfebriele temperatuur en huidafwijkingen.

A 6-day-old boy suffered from subfebrile temperature and progressive skin lesions with epidermolysis, due to Staphylococcus aureus: staphylococcal scalded skin syndrome.

Surgical findings in acquired undescended testis.

BACKGROUND/PURPOSE: The aim of this study was to retrospectively review the findings at orchidopexy in acquired undescended testis (UDT). METHODS: The authors reviewed a 14-year (1986 through 1999) surgical experience in 360 boys in whom 461 orchidopexies were performed for acquired-UDT. The operative notes were reviewed to determine at operation testis position and volume, persistence of patent processus vaginalis (PV), and attachment of the gubernaculum. Also, testis position after orchidopexy was evaluated. RESULTS: Age at operation ranged from 2 to 19 years (mean, 8.9 years), 205 of the 461 orchidopexies (44.5%) had been performed between 9 and 12 years of age. In 327 of the 461 cases (70.9%), testis position was documented as intraoperative; in 281 of these cases (86.0%), the testis was located in the superficial inguinal pouch (SIP). A note was made regarding the presence or absence of a hernial sac in 207 of the cases: 113 (54.6%) were associated with an open PV, which usually was slightly open. In 122 of the 461 cases (26.5%), the gubernacular attachment was assessed; in 121 of these (99.2%), a normal attachment of the gubernaculum was noted. At the end of orchidopexy, in 438 of the 461 cases (95.0%), testis position was recorded. Three hundred eighty-two of these testes (87.2%) were at the bottom of the scrotum. CONCLUSIONS: Acquired UDT usually is characterized by SIP position, closed or (small) open PV, and normal gubernaculum attachment. The results of surgery seem excellent.

Natural course of acquired undescended testis in boys.

BACKGROUND: Although orchidopexy is commonly performed for acquired undescended testis, therapy is still controversial. A prospective study on the natural course of acquired undescended testis in boys was initiated. METHODS: At present, the study includes 63 boys with 74 acquired undescended testes in whom treatment and follow-up has been completed. In 15 boys with 20 acquired undescended testes, orchidopexy was performed before the onset of puberty, mainly at the request of the parents. In the remaining 48 boys with 54 acquired undescended testes, the onset of puberty was awaited. Of these, four boys with four acquired undescended testes were lost to follow-up. RESULTS: In 42 of 50 boys the testis descended spontaneously at puberty with a testicular volume appropriate for age. In the remaining eight boys the testis failed to descend at puberty and orchidopexy was performed. CONCLUSION: The preliminary results of this study indicate that spontaneous descent at puberty commonly occurs in boys with acquired undescended testes, with testicular volume appropriate for age. It is suggested that surgical intervention before onset of puberty may not always be necessary in acquired undescended testis.

A new clinical classification for undescended testis.

A new classification for undescended testis (UDT), suitable for a clinical setting, is proposed. UDT is categorized into congenital and acquired forms. Congenital forms include intra-abdominal, intra-canalicular, supra-scrotal and ectopic testes. Acquired forms can be divided into primary and secondary types. Primary forms are described as either ascending testes, i.e. those which cannot be manipulated into the scrotum, or high scrotal testes, i.e. those which can still be brought through the scrotal entrance into a high scrotal (unstable) position. Secondary forms are the result of ipsilateral groin surgery and are termed "trapped testes". Congenital forms of UDT should be treated surgically at an early age, preferably at 1 year. Therapy for primary acquired forms remains controversial. Therapeutic modalities include orchidopexy, hormonal treatment (preferably with human chorionic gonadotrophin) or waiting for spontaneous descent during the peripubertal period ("laissez faire policy"). Secondary acquired forms are probably best treated surgically.

Inflammatory mediators in dengue virus infection in children: interleukin-6 and its relation to C-reactive protein and secretory phospholipase A2.

To assess the potential role of interleukin-6 (IL-6) in the pathogenesis of dengue virus infection, levels of this cytokine were measured in children with dengue virus infection on admission to the hospital. As presumed surrogate markers of IL-6, C-reactive protein (CRP) and secretory phospholipase A2 (sPLA2) were measured. Three groups were studied: 33 apparently healthy children as negative controls, 11 children with bacterial infections as positive controls, and 186 children with serologically documented dengue virus infection. One-hundred and fifteen patients had dengue fever (DF) and 71 had dengue hemorrhagic fever (DHF). Compared with healthy controls, dengue shock syndrome (DSS) patients had significantly higher levels of IL-6 on admission (P < 0.05), comparable with those in positive controls. Dengue patients with shock had significantly higher levels of IL-6 than normotensive patients (P < 0.001) and higher levels of IL-6 were associated with a higher incidence of ascites. C-reactive protein concentrations in dengue patients and in healthy children were not different, but lower than in children with bacterial infections (P = 0.008). Secretory phospholipase A2 levels were higher in dengue patients than in apparently healthy children (P < or = 0.05) and similar to those in children with bacterial infection. Dengue shock syndrome patients had significantly higher sPLA2 concentrations than normotensive patients (P = 0.02). These data indicate that IL-6 and sPLA2 may have a pathogenetic role only in the most severe forms of dengue virus infection.

Successful treatment of acquired undescended testes with human chorionic gonadotropin.

Human chorionic gonadotrophin therapy may have its place in the management of acquired undescended testes and surgery should be reserved for those who fail to respond to therapy. Further studies are necessary to evaluate these preliminary results.

Inflammatory mediators in dengue virus infection in children: interleukin-8 and its relationship to neutrophil degranulation.

The chemokine interleukin-8 (IL-8) has chemoattractant activity for neutrophils and is able to activate and degranulate these cells. We investigated whether IL-8 may exert these effects in children with dengue virus infection. Circulating levels of IL-8, neutrophilic elastase (a constituent of the azurophilic granula of neutrophils), and lactoferrin, released from specific granula, were measured in 186 children with dengue virus infection, 33 healthy children as negative controls and 11 children with bacterial infections as positive controls. Levels of IL-8 on admission were elevated in 71% of the dengue patients, while the elastase and lactoferrin levels were increased in 68 and 17% of patients, respectively. These levels were significantly higher than in healthy children (P < 0.05) for IL-8 and elastase but not for lactoferrin (by the Wilcoxon-Mann-Whitney [WMW] U test). Similar levels of IL-8 were found in patients with bacterial infections. Levels of IL-8 and elastase in patients with shock were significantly higher than in patients without shock (P = 0.02; WMW), but those of lactoferrin were not. IL-8 correlated with elastase and lactoferrin (r = 0.19 and P = 0.009 versus r = 0.24 and P = 0.001, respectively; two-tailed Spearman rank correlation). Thus, IL-8 levels are increased in most patients with dengue virus infection and correlate with degranulation of neutrophils as well as with some clinical and hemodynamic variables. These findings suggest a role for IL-8 in the pathogenesis of dengue virus infection.

[Rupture of larynx or trachea resulting from injuries sustained at birth]. / Ruptuur van de larynx of de trachea als geboortetrauma.

Four newborn boys developed respiratory insufficiency and pneumothorax, pneumomediastinum or subcutaneous emphysema as the result of a laryngeal or tracheal rupture. These ruptures were due to birth injuries after difficult labour resulting from shoulder dystocia or a large lymphangioma and to a birth weight of at least 4500 g. The three children with shoulder dystocia also had a clavicular fracture, a Horner's syndrome, Erb paralysis or phrenic nerve paresis. Treatment consisted of surgical repair followed by a few days' intubation. The children with a shoulder dystocia recovered well, although in one of them a tracheal stenosis had to be resected a few months later. The child with the lymphangioma died from a bifurcation embolus. In newborns with respiratory insufficiency and pneumomediastinum or subcutaneous emphysema after a difficult delivery an emergency laryngotracheoscopy has to be performed to exclude rupture of larynx or trachea.

Teratoma in a newborn: an unusual cause of airway obstruction.

We report the case of a newborn girl who presented with an inspiratory stridor and apneic episodes due to a mass in the oropharynx. On flexible pharyngo-laryngoscopy, it appeared that on inspiration this swelling, originating from the oropharynx, was sucked into the larynx, obstructing the airway. After intubation under flexible optic control the swelling was excised using the CO2-laser. Histopathological examination showed a teratoma of the oropharynx. The postoperative course was uneventful. Teratomas of the oropharynx are rare and are treated by surgical excision. If respiratory distress accompanies the lesion, priority must be given to securing the airway.

Fatal encephalitis caused by Mycoplasma pneumoniae in a 9-year-old girl.

A case of fatal encephalitis in a 9-year-old girl is described. Serology showed high titre antibodies against Mycoplasma pneumoniae. In addition M. pneumoniae was detected in cerebrospinal fluid by polymerase chain reaction. Direct invasion of the central nervous system as opposed to a secondary immunologic reaction to a M. pneumoniae infection of the respiratory tract in the pathogenesis of encephalitis is discussed.

A congenital syndrome of mental deficiency, gait disturbance, sensorineural deafness and pigmentary retinopathy associated with premature atherosclerosis.

Many neurological disorders have been described in combination with sensorineural hearing loss and pigmentary retinopathy. We present the clinicopathological case of such a combination, associated with premature atherosclerosis of large cerebral arteries. In the literature dealing with the combination of deafness and pigmentary retinopathy, none of the many described syndromes was associated with premature atherosclerosis. The mitochondrial myopathy, encephalopathy, lactic acidosis, early atherosclerosis and stroke-like episodes (MELAS) syndrome can include deafness and blindness. In this syndrome small cerebral arteries are affected. In our case we did not find electron microscopic evidence of mitochondrial myopathy. Also the syndrome with encephalopathy, deafness, blindness and ataxia in young women is attributed to microangiopathy with small brain infarcts and retinal infarcts. In contrast, in our case, large cerebral arteries are affected. In the reverse order, none of the conditions with early atherosclerosis has been reported in combination with sensorineural deafness and pigmentary retinopathy. There is some similarity of our case to cases of Usher syndrome, type II. In the Usher syndrome, plasma lipid disturbances have been described and neuroradiological evidence of decreased circulation in the posterior cerebral circulation has been published. We suggest that in cases of congenital or acquired oto-ophthalmo-neurological disease the cerebral circulation and the lipid metabolism should be analyzed.

[Submersion in children; the role of hypothermia and development of adult respiratory distress syndrome]. / Submersie bij kinderen; rol van hypothermie en ontstaan van 'adult respiratory distress'-syndroom.

OBJECTIVE: To evaluate the occurrence of the adult respiratory distress syndrome (ARDS), and of hypothermia as a predictor of outcome in cases of submersion injury in children. DESIGN: Retrospective analysis. PATIENTS: All drowning cases admitted to the Intensive Care Unit of the Wilhelmina Children's Hospital in Utrecht between January 1986 and January 1993. RESULTS: There were 45 patients, 29 boys and 16 girls, aged 0-13 years. Hypothermia was related to the duration of submersion and did not correlate with a good outcome. Asystole on arrival at the hospital was associated with demise in all but one patient, who was left with severe neurological impairment. ARDS occurred in 27/45 patients (60%), all within 6 h following admission. Of the 45 patients treated, 11 died. Of the 34 survivors, 7 were discharged from the Intensive Care Unit with neurological sequelae (2 with mild, 5 with serious sequelae). CONCLUSION: In our patients with drowning accidents, hypothermia did not appear to provide any protective effect. ARDS, if it occurred, became evident within 6 h after admission.

Pulmonary hypertension complicating a ventriculo-atrial shunt.

The use of ventriculo-atrial shunts for CSF diversion in developing hydrocephalus has become rare because of the risk of chronic thrombo-embolism and subsequent pulmonary hypertension associated with an unfavourable prognosis. However, there remains a group of patients in whom ventriculo-atrial shunts have been inserted in the past. In this group, complications can occur after many years. We report on a 13-year-old girl with pulmonary hypertension caused by chronic thrombo-embolism from a ventriculo-atrial shunt.

[Artificial ventilation, a special interaction of pulmonary mechanics and gas exchange]. / Beademing, een bijzondere interactie van longmechanica en gaswisseling.

During artificial ventilation the lungs are intermittently insufflated by respiratory gases in a certain pattern (ventilatory conditions). The consequences in terms of stretch of lung tissue, airway pressure, alveolar pressure and gas exchange depend on the mechanical properties of airways, lung tissue and thoracic wall. These properties are age dependent and may be changed considerably by disease. The basic principles of ventilatory support can be explained as an interaction of ventilatory gases passing through the airways in and out of the lungs, the subsequent changes in stretch of lung tissue and thoracic wall and pressure variations in the airways and alveoli. Overstretched lung and airways tissue causes damage (barotrauma, air leakage). During artificial ventilation intrathoracic pressure increases, which diminishes venous return to the heart and decreases cardiac output. In addition, the sometimes inevitably high oxygen concentrations may be toxic. In this article the ventilatory cycle is analysed into its different sequences and the interaction with the respiratory system and its consequences are discussed.