Melorheostosis of the hand in a 7-year-old girl

Melorheostosis of the hand is rare. We report a 7-year-old girl who presented with a contracture of the left hand. Diagnosis was made by conventional radiography and bone scintigraphy. MRI proved to be a very useful tool to visualize the soft-tissue changes. This is especially important when surgical repair is considered.     

Extraosseous aneurysmal bone cyst in a 12-year-old girl

A soft-tissue aneurysmal bone cyst located on the lateral aspect of the left thigh of a 12-year-old girl is described. Conventional radiography of the thigh was normal. Sonography showed a hypoechoic mass with a feeding vessel and intralesional vascularity. On MRI, it was of predominantly soft-tissue signal intensity with intense enhancement following administration of IV contrast medium. Histopathological examination diagnosed the lesion as a soft-tissue aneurysmal bone cyst. This is the fourth paediatric case of this very rare benign tumour.     

MRI findings in Kirner deformity: normal insertion of the flexor digitorum profundus tendon without soft-tissue enhancement

Kirner deformity is characterized by volar and radial incurvature of the distal phalanx of the 5th finger. A proposed causative mechanism includes abnormal distal insertion of the flexor digitorum profundus tendon along the volar surface of the distal phalanx of the 5th finger. A chronic inflammatory process or altered vascularisation of the soft tissues has also been suggested as the underlying causative mechanism based on MRI findings. We present a teenage boy with Kirner deformity, along with supplementary imaging of his father who also has the deformity, to illustrate MRI findings that dispute the above hypotheses. MRI in both son and father show normal insertion of the deep flexor tendon and no signs of inflammation.     

Alexander disease as a cause of nocturnal vomiting in a 7-year-old girl

Alexander disease is a rare form of leukodystrophy with a highly variable clinical course. Occasionally night-time nausea and vomiting are the first symptoms of juvenile Alexander disease. A 7-year-old girl had recurrent night-time vomiting and her growth and weight gain had deteriorated after her sixth birthday. Cranial MRI demonstrated two small, symmetrical focal areas of abnormally high signal intensity in the dorsal medulla oblongata on T2-W and FLAIR images. These were suggestive of juvenile Alexander disease, and subsequent sequencing of the glial fibrillary acidic protein (GFAP) gene revealed a heterogeneous missense mutation in the GFAP gene in exon 6. Alexander disease should be considered in young patients with atypical anorexia nervosa-type symptoms.     

Assessment of skeletal age at the wrist in children with a new ultrasound device

Background: Determination of skeletal development in children is important. The most common method of evaluation uses the standards of Greulich and Pyle (G&P) to assess the left hand radiograph. Numerous assessments may be made during follow-up. Objective: The aim of our study was to compare the accuracy of a new sonographic method with the standard radiographic method. Materials and methods: Seventy consecutive patients (age 6–17 years; 34 girls, 36 boys) underwent radiography of the left hand, followed by sonographic examination of the same hand using the BonAge system (Sunlight Medical Ltd., Israel). This system evaluates the relationship between the velocity of sound passing thorough the distal radial and ulna epiphysis and growth, using gender- and ethnicity-based algorithms. One experienced paediatric radiologist analysed the radiograph and assigned bone age scores based on the G&P atlas for the whole left hand and for the distal radius alone. The radiologist was blinded to the chronological age (CA), height of the patient and the BonAge result. Correlation between BonAge and G&P was undertaken. Results: In 65 patients, BonAge measurement could be performed successfully. In five patients, the scanning process was impossible using the ultrasound device. The r² (r is the Pearson correlation coefficient) of the BonAge ultrasound measurement and the G&P method was 0.82. The averaged accuracy (i.e. absolute difference in years between G&P reading and BonAge ultrasonic results) was calculated. Results were similar for boys and girls: 1.0±0.8 years for the whole left hand and 0.8±0.7 year for the distal radius. On average, the difference between BonAge and CA is the same as the difference between G&P and CA, i.e. 1.4 years. Conclusions: The BonAge device demonstrates the ability of ultrasound to produce an accurate assessment of bone age. The results are highly correlated with skeletal age evaluated conventionally using the G&P method. Obvious advantages of the ultrasound device are objectivity, lack of ionizing radiation, and easy accessibility.     

Progressive noninfectious anterior vertebral fusion: MRI findings and association with a lipoma of the filum terminale in a 5-year-old girl

Progressive noninfectious anterior vertebral fusion (PNAF) is a rare but well-defined entity of unknown cause. We report the MRI findings in a 5-year-old in whom PNAF was associated with a lipoma of the filum terminale.     

Multi-modality evaluation of the abnormalities of the aortic arches in children: techniques and imaging spectrum with emphasis on MRI

The failure of embryonic vascular arches to fuse and regress in the usual manner during the formation of the aortic arch, pulmonary arteries and ductus arteriosus can cause a wide spectrum of vascular congenital abnormalities of the aortic arch and its branches. These abnormal vascular structures may cause variable compression of the trachea and/or oesophagus with symptoms ranging from none to severe stridor, dyspnoea, dysphagia and cyanosis. Diagnosis and possible treatment of affected patients require multiple imaging modalities. In the majority of cases, the underlying malformation can be detected by chest radiography and barium oesophagography, visualizing the location of the aortic arch and the presence of anomalous compressions of the trachea and/or oesophagus. However, in most cases the exact configuration of the vascular abnormality cannot be fully defined with conventional radiology alone. MRI is fundamental for evaluation of the thoracic vessels. Not only is it non-invasive, but it can also provide large-field-of-view images in any number of planes with three-dimensional reconstruction, adding valuable information about exact vascular configuration, tracheobronchial compression and brachiocephalic vessel branching. The aim of this review is to describe the imaging findings in children affected with special emphasis on MRI.     

Multiple hyperplastic nodules in the liver with congenital absence of portal vein: MRI findings

We describe a 10-year-old girl with congenital absence of the portal vein (CAPV) and multiple hyperplastic nodules in the liver. MRI appearances of the liver lesions and the portocaval anastomosis between the inferior mesenteric vein and internal iliac veins are presented. In addition, the relevance of CAPV and nodular lesions of the liver is reviewed.     

Tigroid pattern of the white matter: a previously unrecognized MR finding in lissencephaly with cerebellar hypoplasia

Brain MR images of a 14-month-old boy with lissencephaly and cerebellar hypoplasia showed numerous radiating linear structures in the white matter. This finding was identical to the tigroid or leopard-skin pattern that is seen in Pelizaeus-Merzbacher disease or metachromatic leukodystrophy and represents the perivascular white matter spared from demyelination. We speculate that mutations of the reelin gene, expressed both in the cortex and in the white matter, may play an important role in its development.     

The relation of maternal job strain and cortisol levels during early pregnancy with body composition later in the 5-year-old child: the ABCD study

Background

Prenatal exposure to maternal stress may program the fetal HPA axis, potentially leading to altered metabolism in later life, associated with adiposity and diabetes.

Aims

This association is little studied in humans, and thus we explore whether high maternal job strain during early pregnancy, as well as maternal cortisol levels are associated with increased body mass index (BMI), central adiposity or body fat mass in the offspring at age five. Additionally, we explore whether these associations are modified by gender or mediated by gestational age and fetal growth restriction.

Study design

2939 pregnant women (ABCD cohort study) completed a questionnaire around gestational week 16 including the Job Content Questionnaire, assessing job strain. Serum total cortisol was assessed in a subsample (n = 1320). Gestational age (≥ 37 weeks), standardized birth weight and information on many covariates were available. At the age five health check, height, weight (BMI, kg/m²), waist circumference (waist-to-height ratio, WHtR) and Fat Mass Index (FMI, kg/m²) were assessed.

Results

Job strain was not associated with higher BMI, WHtR or FMI. Higher maternal cortisol was independently associated with marginally higher FMI in girls, but marginally lower FMI in boys (β 0.09 and β −0.10 per 100 unit increase in serum cortisol, respectively. p < 0.01). This association was not mediated by gestational age or fetal growth restriction.

Conclusions

Results show that prenatal maternal job strain and cortisol may not program obesity and adiposity in the next generation in humans, but gender differences should always be considered.     

Lymphocytic hypophysitis presenting with diabetes insipidus in a 14-year-old girl: case report and review of the literature

Lymphocytic hypophysitis is a rare disorder predominantly affecting females during the antepartum or postpartum period. It is characterized by destruction and lymphocytic infiltration of the pituitary gland, probably by an autoimmune process, leading to a pituitary mass lesion and/or various degrees of hypopituitarism. The lesion is usually confined to the adenohypophysis. Posterior pituitary gland or stalk involvement is rare, although patients presenting with diabetes insipidus have been reported. We describe a girl aged 13 years 9 months with lymphocytic hypophysitis who presented with diabetes insipidus and secondary amenorrhea. MRI of the brain revealed a 1 cm enhancing mass in the pituitary stalk. A biopsy of the mass by right pterional craniotomy showed lymphocytic infiltration without neoplastic cells or granuloma formation. To our knowledge, this is the youngest reported patient with a diagnosis of lymphocytic hypophysitis. In this case report, her clinical presentation is discussed along with a review of the literature. Conclusion We present the first childhood case of lymphocytic hypophysitis which is an autoimmune inflammatory disorder of the pituitary gland. Although this is a rare condition in adults, it also needs to be considered in the pediatric population. Conservative management is preferred unless there are signs of increased intracranial pressure. Most importantly, close monitoring for multiple hormone deficiencies is indicated in this condition. Received: 15 October 1996 / Accepted: 24 February 1997     

Gaucher disease with pulmonary involvement in a 6-year-old girl: report of resolution of radiographic abnormalities on increasing dose of imiglucerase.

We report resolution of ground-glass appearance in high-resolution computed tomography of chest in a 6-year-old girl who had Gaucher disease with pulmonary involvement. This radiographic abnormality, which developed during the course of enzyme replacement therapy at doses between 20 to 60 U/kg/2 weeks, resolved when the dose was increased to 100 U/kg/2 weeks. This case illustrates the importance of trial of escalating dosage in the face of failure of response at lower doses.     

Bilateral renal masses in a 10-year-old girl with renal failure and urinary tract infection: the importance of functional imaging

Renal sonography is a routine step in the evaluation of new onset renal failure. When renal masses are discovered in this setting, functional imaging may be critical. We report a case of bilateral renal masses in a girl with urinary tract infection and renal insufficiency found to have vesicoureteral reflux. Renal scintigraphy revealed these masses to be the only remaining functional renal tissue, preventing potentially harmful resection.     

Relevance of CT and MRI in retinoblastoma for the diagnosis of postlaminar invasion with normal-size optic nerve: a retrospective study of 150 patients with histological comparison

Background Detection of optic nerve invasion is mandatory in children primarily enucleated for retinoblastoma to ensure a free resection margin. Objective To assess the accuracy of CT and MRI for the detection of postlaminar invasion in normal-size nerves. Materials and methods A total of 150 patients enucleated for retinoblastoma were included. Imaging data (119 CT and 46 MRI) were retrospectively reviewed and compared with histological findings. Abnormal contrast enhancement of the optic nerve was used as diagnostic criterion for invasion. The associations between postlaminar invasion and several indirect signs were also assessed. Statistical analysis was performed with the Kruskal-Wallis and Fisher exact tests. Results Postlaminar invasion on histology was observed in 8% (12/150). The sensitivity, specificity, accuracy and negative and positive predictive values were 60%, 95%, 91%, 95% and 60% for MRI, and 0%, 100%, 94% and 94% (PPV not assessable) for CT, respectively. Tumour diameter was the only indirect radiological sign significantly associated with postlaminar optic nerve invasion (P=0.002). Conclusion Our results suggest that MRI is more relevant than CT for preoperative detection of optic nerve invasion in patients with retinoblastoma. Tumour diameter is the only indirect sign significantly associated with postlaminar invasion.     

Impact of whole-body MRI and FDG-PET on staging and assessment of therapy response in a patient with Ewing sarcoma

In patients with Ewing sarcoma, precise staging is not only crucial for the therapeutic regimen but also for a reliable evaluation of response to therapy. We report on a 15-year-old girl with metastatic spread of a Ewing sarcoma who, apart from conventional staging by bone scan, chest X-ray and CT, was subsidiary examined by FDG-PET and whole-body MRI before and after chemotherapy. Both modalities detected more bone lesions than the bone scan, which led to an altered strategy for radiotherapy. Both examinations might be a great asset to stage-adjusted therapy regimens, ultimately influencing patient outcome.     

Kikuchi-Fujimoto disease manifesting as recurrent thrombocytopenia and Mobitz type II atrioventricular block in a 7-year-old girl: a case report and analysis of 138 Chinese childhood Kikuchi-Fujimoto cases with 10 years of follow-up in 97 patients

BACKGROUND: The diagnosis of Kikuchi-Fujimoto disease (KFD) is challenging for a paediatrician. Recognizing unusual clinical presentations and features of KFD is essential for doctors to obtain a thorough understanding of this clinical entity. METHOD: We reported a case recently diagnosed in our ward with manifestation of recurrent thrombocytopenia and Mobitz type II atrioventricular block, which is very unusual in childhood KFD. We also used three powerful Chinese Journal Search Engines (Cqvip.com, Wanfang.data and ScienceChina) to search the cases reported in China from 1989 to 2006. RESULTS: One hundred seventy-three patients younger than 16 years old with pathologic proof of KFD were identified. Among them, 138 cases with detailed clinical records from eight different provinces and cities were analyzed, and of which 97 patients were followed-up for average of 10 years and the outcomes are discussed. CONCLUSIONS: KFD is characterized by a spectrum of distinctive features, but also a variety of systemic manifestations. A hyperimmune reaction to unidentified agents as well as an autoimmune component may play an important role in this disease. Early corticosteroid therapy may improve the long-term prognosis of KFD in children.     

运动康复训练对支气管哮喘儿童运动能力和生活质量干预效果的系统评价

目的 系统评价运动康复训练对支气管哮喘儿童运动能力和生活质量的干预效果。 方法 检索PubMed、Cochrane Library、Web of Science、EBSCO、中国知网、维普数据库、万方数据库等数据库从建库至2021年2月关于运动康复训练对支气管哮喘儿童影响的随机对照试验。采用RevMan 5.3软件进行Meta分析。 结果 共纳入14项研究,共计990例受试者。Meta分析结果显示：（1）运动康复组运动能力优于常规治疗组：6 min步行试验的步行距离（MD=108.13,P<0.01）、自我疲劳感觉值（MD=-2.16,P<0.001）、峰值功率（MD=0.94,P=0.001）均显著优于常规治疗组;（2）在儿科哮喘生活质量问卷中,运动康复组生活质量总评分（SMD=1.28,P=0.0002）显著高于常规治疗组,活动受限评分（SMD=1.38,P=0.0002）、症状评分（SMD=1.02,P<0.001）、情感功能评分（SMD=0.86,P<0.001）均显著高于常规治疗组。 结论 运动康复训练对支气管哮喘儿童运动能力和生活质量具有一定的改善作用,但受纳入研究数量和质量的限制,作为指导临床应用还需进一步研究和验证。     

Effect of Growth Hormone Treatment on Quality of Life in Japanese Children with Growth Hormone Deficiency: An Analysis from a Prospective Observational Study

The aim of this study was to assess changes in quality of life (QoL) in Japanese children with GH deficiency (GHD) after 12 mo of GH treatment or with idiopathic short stature (ISS) after 12 mo without treatment. Children with GHD were treated with GH after enrollment. Outcome measures included the parent-rated Child Behavior Checklist (CBCL), the Youth Self-Report Form (YSR), and height standard deviation scores (SDS). Total CBCL scores significantly decreased in children with GHD (n = 152, mean change (standard deviation [SD]) = –3.42 [11.21]) and ISS (n = 129, mean change = –4.82 [10.09]) after 12 mo (p < 0.001). Total YSR scores (mean change = –9.21 [14.07]) and height SDS (mean change = 0.35 [0.38]) significantly decreased in children with GHD (p < 0.001), but were unchanged in children with ISS. The change in total YSR score was significantly correlated with the change in height SDS in children with GHD (r = –0.516, p = 0.003). Our findings demonstrate that GH treatment can improve QoL in Japanese children with GHD. The correlation between the changes in total YSR score and height SDS demonstrated that increased height resulted in improved QoL.