Typical and atypical Carney's triad presenting with malignant hypertension and papilledema

This report encourages clinicians to consider a diagnosis of Carney's triad in patients with multifocal gastric stromal sarcoma, extraadrenal paraganglioma (predominantly mediastinal), or pulmonary chondroma. The authors conducted a retrospective 20-year survey at the Hospital for Sick Children and identified two children with Carney's triad. One child, presenting atypically with papilledema and fundal hemorrhages from malignant hypertension and benign intracranial hypertension from chronic iron-deficiency anemia, is the second patient ever to date be described with the complete Carney's triad of neoplasms at diagnosis. Another child presented more typically with gastric stromal sarcoma and pulmonary chondroma without paraganglioma. Carney's triad is a rare differential diagnosis for "idiopathic" hypertension or iron-deficiency anemia from chronic gastrointestinal bleeding. If missed, patients with Carney's triad may have the debilitating physical and mental consequences of chronic iron deficiency and may die of untreated prolonged hypertension and metastatic leiomyosarcoma.     

小儿原发性夜间遗尿症尿动力学评价的初步探讨

目的 探讨小儿原发性夜间遗尿症的病因和膀胱功能改变。方法 本组63例，男39例，女24例。在清醒和自然睡眠相进行充盈期膀胱压力容积测定，记录睡眠相盆底肌电活动变化。结果 58例存在膀胱功能紊乱，多种异常合并为五种模式。其中，睡眠相逼尿肌不稳定收缩占71.4%(45/63)，睡眠相膀胱最大测量容量下降占36.5%(23/63)。睡眠相逼尿肌不稳定收缩出现时，逼尿肌与盆底肌肉协同失调者11例。结论 逼尿肌不稳定收缩是遗尿发生的主要原因，盆底肌肉与逼尿肌的协同失调可能是原因之一，膀胱容量下降是逼尿肌不稳定收缩所致的遗尿结果而不是原因。     

Longitudinal changes in insulin sensitivity, insulin secretion, and beta-cell function during puberty

OBJECTIVE: To determine longitudinal changes in insulin sensitivity (SI), insulin secretion, and beta-cell function during puberty in white and black youth. STUDY DESIGN: The tolbutamide-modified frequently sampled intravenous glucose tolerance test and minimal modeling were used to measure SI, the acute insulin response to glucose (AIRg), and beta-cell function (disposition index, DI) in white (n = 46) and black (n = 46) children (mean [+/-SD] age at baseline = 10.2 +/- 1.7 years). Growth curve models (including 272 observations) with SI, AIRg, and DI regressed on Tanner stage were run after adjusting for covariates. RESULTS: After adjusting for covariates, growth curve models revealed that SI decreased and subsequently recovered by the end of puberty in whites and blacks (both p < .05), AIRg decreased linearly across Tanner stages in both races (both p < .001), and DI decreased across puberty in blacks (p = .001) but not in whites (p = .2). CONCLUSIONS: White and black youth exhibited transient insulin resistance and diminished AIRg during puberty. The progressive decline in DI among blacks versus whites may reflect a unique effect of puberty on beta-cell compensation in blacks. Future studies are needed to identify whether this difference contributes to the increased risk of type II diabetes in young blacks.     

Endocrine disorders associated with holoprosencephaly

OBJECTIVE: To investigate the incidence of endocrinopathies in holoprosencephaly (HPE) and correlate the severity of the endocrinopathies with the neuroanatomic abnormalities. STUDY DESIGN: We reviewed the histories and medical records of 117 children with HPE for endocrinopathies and related treatments. Neuroimaging studies were graded for severity of HPE, hypothalamus non-separation, and pituitary abnormalities. RESULTS: Diabetes insipidus (DI) occurred in 70% of patients with classic HPE. The severity of the DI correlated with the grade of HPE and hypothalamic non-separation (p < 0.0001). Anterior pituitary dysfunctions were much less common. Hypothyroidism was identified in 11% of patients, hypocorticism in 7%, and growth hormone deficiency in 5%. Only one patient with middle interhemispheric variant of holoprosencephaly (MIH) had any of these disorders. CONCLUSIONS: Patients with HPE have a high incidence of DI that may be related to the failure of cleavage of hypothalamic nuclei. Anterior pituitary dysfunctions are much less common than DI.     

Prenatal presentation of transient central diabetes insipidus

Introduction  

Nephrogenic diabetes insipidus (DI) in the foetus has been described as a rare presentation of severe polyhydramnios.     

Transient hypoproteinemia and hypoprothrombinemia in an infant

A 7 months old infant with transient hypoproteinemia and hypoprothrombinemia is described. The hypoproteinemia is attributed to protein losing enteropathy, and transient Menetrier's disease is suggested as a possible cause for the protein loss. Assuming that this baby was not vitamin K deficient, and knowing that the molecular weight of prothrombin is lower than that of albumin, the hypoprothrombinemia might be due to prothrombin loss into the gut together with albumin.     

Course and clinical impact of magnetic resonance imaging findings in diabetes insipidus associated with Langerhans cell histiocytosis

BACKGROUND: Diabetes insipidus (DI) is the most frequent sequela in Langerhans cell histiocytosis (LCH). The clinical relevance and therapeutic impact of brain magnetic resonance imaging (MRI) findings in LCH patients with LCH during the disease course is unclear. PROCEDURE: In this retrospective study, we reviewed 113 brain MRIs from 59 DI patients, in 17 of these serial follow up MR-examination findings were correlated to the clinical course and therapy. RESULTS: At DI diagnosis, 71% patients showed a thickened stalk, in 24% the stalk was still thickened on MRIs done more than 5 years after DI onset, and in two patients the stalk was already thickened several months before DI onset. The changes of the pituitary stalk thickness were highly variable and did not clearly correlate with the treatment. Regression of pituitary thickness on MRI did not concur with clinical recovery of DI, which persisted in all but one patient with initially partial DI. The occurrence of anterior pituitary hormone deficiencies appeared to be linked to a thickening of the stalk at DI diagnosis. LCH-lesions in the craniofacial bones were seen in 75% DI patients, and 76% of DI patients with follow up MRIs done 5 years or longer after DI diagnosis had parenchymal neurodegenerative brain changes. CONCLUSIONS: Our study indicates that repeated MR-examinations in DI patients are of limited value for assessing a response to therapy in the pituitary stalk, but are important for the monitoring of craniofacial bone lesions and for the detection of parenchymal CNS disease.     

CYANOTIC CONGENITAL HEART DISEASE (Triology of Fallot) IN ONE OF IDENTICAL TWINS

Cyanotic congenital heart disease with a triad of defects described by Fallot in 1888 as a “morbid triology”, was found in one of monozygotic twins, the co-twin being normal. Monozygosity has been confirmed by serological methods.     

Hepatic dysfunction in childhood dengue infection

Hepatic functions of 61 children, diagnosed to have dengue infection (DI), aged 2 months to 12 years comprising 37 cases of dengue fever (DF), 16 with dengue hemorrhagic fever (DHF), and eight with dengue shock syndrome (DSS) were prospectively studied during the acute attack. Hepatomegaly (74 per cent), epistaxis (26 per cent), jaundice (25 per cent), and petechial rashes (18 per cent) were the common clinical manifestations of DI. On admission, levels of serum aspartate transaminase (AST), serum alanine transaminase (ALT) and serum alkaline phosphatase (AP) were raised in 80-87 per cent of children with hepatomegaly (group I) and 81 per cent of cases without hepatomegaly (group II). During the second week of hospitalization the proportion of cases with raised levels of AST, ALT, AP and serum bilirubin increased and the mean levels were significantly higher (p < 0.05) in both the groups. These levels gradually declined over the next 2-3 weeks. All the cases with DSS and DHF had raised AST, ALT and AP levels and the mean levels of these enzymes were significantly higher (p < 0.05) as compared to DF. Our results suggest a transient derangement of liver functions in childhood DI, more so in DSS and DHF, with or without hepatomegaly.     

Spasmus nutans: apropos of 16 cases]

Spasmus nutans is a syndrome occurring in early childhood. It consists of a triad of symptoms: head nodding, ocular oscillations and anomalous head position. Ophthalmologic and neurological findings are otherwise normal. This syndrome is benign and has spontaneous resolution. PATIENTS AND METHOD: Sixteen patients with spasmus nutans seen from 1980 to 1995 were retrospectively studied. Their present status was evaluated by clinical examination or questionnaire. RESULTS: The age at onset ranged from 1 to 15 months (average 7 months). Thirteen of 16 patients were referred for head nodding, which was a constant manifestation; its direction was horizontal, vertical or rotatory. Nystagmus was present in 14 infants. It was acquired, asymmetrical, bilateral (or unilateral in three cases), rapid, fine, pendular and horizontal. Both head nodding and nystagmus were intermittent. Anomalous head position was present in seven cases, consisting of head tilt or a chin upon/chin down posture. Neuroimaging (13 cases) was always normal. The follow-up in 12 children (up to 2 years) showed a complete resolution of the syndrome in 6 months to 6 years (average 2.5 years). DISCUSSION: The diagnosis was established by the constancy of the characteristic triad and the elimination of the other causes of nystagmus. Isolated head nodding had to be distinguished from bobble head syndrome. In several reported cases, electronystagmography recordings have suggested that head nodding is a compensatory process against nystagmus and that the head tilt allows transient resolution of the nystagmus. CONCLUSION: Spasmus nutans is a self-limiting benign clinical entity. Normal complete ophthalmologic and neurological examination, as well as magnetic resonance imaging (MRI) are necessary to confirm the diagnosis.     

Traumatic diaphragmatic injuries in infants and children: imaging findings

Objectives. Traumatic diaphragmatic injuries (DI) in infants and children are uncommon and are often associated with multiple severe injuries. Delayed presentation can be life threatening due to organ herniation and strangulation. We present the imaging findings in a relatively large population of children who experienced this rare injury.¶Methods. Medical records of all patients admitted to our Trauma Service from 1977 to 1998 with DI were retrospectively reviewed recording imaging, clinical and surgical or autopsy findings.¶Results. Of sixteen patients with DI (7 females, 9 males; age 3 weeks to 15 years), 14 suffered from blunt trauma secondary to high-energy impact, and 2 from penetrating injuries. Unilateral DI occurred equally on each side, with one bilateral injury. Associated injuries, present in 81 %, included severe head injuries, visceral, mesenteric and vascular injuries and multiple fractures. Six patients died from multiple organ failure (3), head injury (2), and shock (1). Findings in the initial chest X-ray suggested the diagnosis in 13 (81 %) of 16 injuries, and CT demonstrated irregularity and thickening of the diaphragm in 4 out of 7.¶Conclusions. Plain film findings suggested the diagnosis in most; CT and MR were useful adjuncts. High index of suspicion and awareness of the mechanism of injury can lead to prompt diagnosis, early repair, and decreased morbidity and mortality.     

Risk factors for diabetes insipidus in langerhans cell histiocytosis

BACKGROUND: Diabetes insipidus (DI) is the most frequent central nervous system (CNS)-related permanent consequence in Langerhans cell histiocytosis (LCH), which mostly requires life-long hormone replacement therapy. In an attempt to define the population at risk for DI, 1,741 patients with LCH registered on the trials DALHX 83 and DALHX 90, LCH I and LCH II were studied. RESULTS: Overall 212 of 1,741 patients (12%) was reported to have DI. In 102 of 1,741 patients (6%) DI was present at diagnosis of LCH. One thousand one hundred eighty three of 1,539 patients without DI at diagnosis had follow up information. One hundred ten of these (9%) later developed DI. The risk of developing DI was 20% at 15 years after diagnosis. Multisystem disease patients at diagnosis carried a 4.6-fold risk for DI compared to single system patients. Craniofacial lesions, in particular in the "ear," "eye," and oral region were associated with a significantly increased risk for DI (relative hazard rate, RHR 1.7), independent of the extent of disease. No influence of the duration of therapy could be determined, but the duration of initial disease activity (RHR 1.5) and the occurrence of reactivations (RHR 3.5) significantly increased the risk for DI. CONCLUSIONS: Patients with multisystem disease and craniofacial involvement at diagnosis, in particular of the "ear," "eye," and the oral region carry a significantly increased risk to develop DI during their course. This risk is augmented when the disease remains active for a longer period or reactivates.     

Interrupted aortic arch and aortopulmonary window associated with complete atrioventricular septal defect

We report a rare case of a neonate with interrupted aortic arch, aortopulmonary window and complete atrioventricular septal defect. To the best of our knowledge, this unusual triad has not been previously described. The main question of the surgical strategy for CAVSD, in setting of associated defects, is to classify the CAVSD as balanced or unbalanced.     

Diabetes insipidus in langerhans cell histiocytosi: Results from the DAL-HX 83 study

Diabetes insipidus (DI) in Langerhans cell histiocytosis (LCH) is a common complication of unclear etiology. The incidence varies among different publications from 15% to 50%. In the prospective DAL-HX 83 study, 19 out of 199 patients (9.5%) registered with newly diagnosed LCH were diagnosed to have DI. All patients were stratified according to uniform criteria. One hundred and six patients with disseminated disease were treated with standardized polychemotherapy promptly after diagnosis. At the time of diagnosis of LCH, DI was already established in 8 out of 199 patients (4%). After diagnosis, DI occurred in only one out of the remaining 91 patients with localized disease (1%) and in 10 out of 100 remaining patients with disseminated disease (10%). In 8 patients, the onset of DI was associated with other signs of active LCH. The cumulative risk to develop DI after a median observation time of 5 years 3 months was 11%. Retrospective analysis of clinical features revealed multisystem involvement, skull and orbital lesions, and in particular intracranial extension from osseous lesions to constitute risk factors for DI. Magnetic resonance imaging studies (MRI) were available in 12 patients and showed abnormalities of the pituitary region in 10 children. In none of the patients with established DI was it reversed or ameliorated by any treatment. However, the rapid institution of systemic chemotherapy for disseminated disease seems to prevent the occurrence of DI and may be responsible for the low frequency of DI in the DAL-HX 83 study. © 1995 Wi1ey-Liss Inc.     

Magnetic resonance detection of myelodysplasia in children with Currarino triad

Purpose. To evaluate the role of MRI in the detection of myelodysplasia in children with Currarino triad. Materials and methods. Six patients (two girls, four boys, aged 7 months–14 years, mean age 6 years) were studied with MRI, voiding cystourethrogram and barium enema or fistulography. CT and ultrasonography were also performed in two patients. Results. All patients presented with partial agenesis of the sacrum. Three patients suffered from an intermediate form of anorectal malformation (ARM) and three had a high form of ARM. The presacral masses consistent with Currarino triad included anterior meningocoele in three patients, lipoma in two patients and anterior lipomeningocoele in one patient. MRI diagnosed tethering of the spinal cord in four of six patients. The tethering of the spinal cord was due to a lipomeningocoele in one patient, an intradural lipoma in one patient and a lipoma of the filum in two patients. Conclusion. The association of Currarino triad with tethered spinal cord seems more common than generally reported in the literature. Preoperative MRI of the lumbosacral spine is essential to detect significant myelodysplasia in all patients with Currarino triad. Received: 15 January 1997 Accepted: 23 June 1997     

Deep inhalation prevents the respiratory elastance response to methacholine in rats

The bronchodilator effect of deep inhalation (DI) may be assessed from the time course of respiratory system resistance (Rrs) and reactance (Xrs) measured by the forced oscillation technique at a single frequency. The aim of the study was to assess the effect of DI in the closed chest rat. Under anesthesia and mechanical ventilation, seven Brown Norway rats were given regular DI (BN-di) and six underwent continuous tidal ventilation (BN) throughout an otherwise similar methacholine (Mch) challenge protocol. Rrs and Xrs were monitored at 20 Hz and apparent respiratory system elastance (Ers) was computed from Xrs. After Mch nebulization, there was a significant increase in Rrs and Ers compared with saline. Ers, but not Rrs, decreased after the DI and BN-di were found to have lower Ers than BN. Thus, DI significantly alters Ers and its response to Mch. Computer simulations suggested reversal of increased viscoelasticity and/or inhomogeneous behavior by the DI in that model.     

Diabetes insipidus and Langerhans cell histiocytosis: a case report of reversibility with 2-chlorodeoxyadenosine

Diabetes insipidus (DI) is the most common manifestation of central nervous system involvement in Langerhans cell histiocytosis (LCH). Patients with LCH involving the head and neck region are reported to have about a 40% lifetime chance of developing DI. The clinical and biochemical diagnosis of DI is sometimes supported by the absence of the posterior pituitary bright signal on magnetic resonance images. Cladribine (2-chlorodeoxyadenosine, 2-CDA) has been reported as an active drug in children and adults with relapsed or refractory LCH. The authors report the successful reversal of DI in a 3-year-old child with established LCH using 2-CDA.     

Neonatal laryngoscope intubation and the digital method: a randomized controlled trial

We compared digital intubation (DI) and laryngoscope intubation (LI) in newborns. The success rate was 90.5% for DI and 50% for LI (P = .004). It took 8.2 seconds to complete the DI and 13.1 seconds to complete the LI (P = .007). DI should be considered to be an option for neonatal intubation.     

儿童原发性夜间遗尿症尿动力学研究

目的　通过对睡眠中自然充盈状态膀胱尿动力学检测 ,探讨儿童原发性夜间遗尿症(PNE)膀胱病理生理改变。方法　PNE组儿童 5 0例 ,对照组儿童 30例 ,无PNE临床表现。两组均进行下列检查 :晨尿分析、泌尿系B超、尿流率 ,检查结果均正常者列入研究对象 ;连续记录 7d排尿日记 ;在夜间动态脑电图监测下 ,进行自然充盈膀胱的尿动力学检测。结果　夜间总尿量、功能性膀胱容量 (FBC)和排尿潜伏期 :PNE组夜间总尿量与对照组比较差异无显著性意义 (P >0 .0 5 ) ,FBC显著低于对照组 (P <0 .0 1) ,排尿潜伏期显著低于对照 (P <0 .0 1) ;遗尿发生于S2 4期 ;PNE组中膀胱顺应性 (BC)下降 4例 ,对照组 0例 ;PNE组逼尿肌不稳定收缩 (DI) 2 9例 ( 5 8.0 % ) ,对照组 3例( 10 .0 % ) ,差异有显著性意义 (P <0 .0 1) ;DI虽随年龄增加有下降趋势 ,但差异无显著性意义 (P >0 .0 5 ) ;充盈期出现DI伴尿道压下降 ,PNE组 8例 ,对照组 0例 ,排尿期尿道压增高伴盆底肌电活动增强PNE组 4 8例 ( 96 .0 % ) ,对照组 2 8例 ( 93.3% ) ,差异无显著性意义 (P >0 .0 5 )。结论　FBC下降是PNE基本特征 ;DI是PNE重要病理生理改变 ;充盈过程部分PNE可能存在尿道括约肌中枢功能不稳定