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.     

Congenital absence of the portal vein in a boy

Congenital absence of the portal vein (CAPV) is a malformation that is generally thought to be limited to females. We encountered an 11-year-old boy with this malformation. In 17 previously reported cases of CAPV, 2 were male. Three male patients, including our case, were Abernethy type Ib malformation. They had no associated liver tumour and two had no additional congenital abnormality. Conversely, 13 of the 15 female patients had congenital abnormalities and 6 had liver mass lesions. Received: 8 January 1998 Accepted: 24 September 1998     

Congenital absence of the portal vein: Case report and MR demonstration

Congenital absence of the portal vein (CAPV) is a rare anomaly that results from aberrant venous development in early embryonic life. The intestinal and splenic venous drainage bypasses the liver and drains directly into the inferior vena cava (IVC), the left renal vein, or the left hepatic vein. We describe a case where prenatal ultrasonography demonstrated an unusual C-shaped vessel between the umbilical vein and a dilated IVC, and failed to show a portal vein. Ultrasonography and magnetic resonance imaging and magnetic resonance angiography at 4 months of age again found no portal vein. The superior mesenteric vein drained into the left renal vein.     

Pediatric split liver transplantation after Fontan procedure in left isomerism combined with biliary atresia: A case report

LI is a subset of the heterotaxy syndrome and a rare birth defect that involves the heart and other organs. It can be combined with extracardiac abnormalities, especially BA. CHD can be associated with LI in up to 15% of cases, although it is rare in BA. Pediatric LT for a child with ESLD due to BA combined with LI and CHD is a challenging issue for a transplant surgeon. Herein, we report a successful split LT on a three‐yr‐old boy with LI who survived after a Fontan procedure due to single ventricle, but who suffered from HPS associated with BA.     

Strategies to treat children with end-stage renal dysfunction and severe lower urinary tract anomalies for receiving a kidney transplant

Abstract:  Dealing with children with bladder dysfunction and kidney transplant is certainly not a new issue. Nevertheless, it is still a matter of discussion and dilemma, based on few, not standardized, institutional center experiences. The authors perform a review of the techniques employed to restore the bladder condition in terms of storage and drainage of urine to receive a kidney transplant in a safer condition. Aspects of the etiology and the way of evaluation of such a group of patients are discussed. The strategies and individualized therapeutic options are presented and compared with the author's experience based upon 25 children with urinary anomalies who received 28 kidney transplants. Nevertheless, the number of complications, mainly UTI, graft and patient survival rates are equivalent to the group of children with non-urological causes of ESRD. Patients with severe lower urinary tract abnormalities and ESRD may receive a kidney transplant with comparable success.     

Children with a Pervasive Developmental Disorder, Children with a Language Disorder and Normally Developing Children in Situations with High- and Low-level Involvement of the Caregiver

The social behaviour of tow-functioning children with a Pervasive Developmental Disorder (PDD). high-functioning children with a PDD, children with a Language Disorder (LD) and normally developing children (ND| was investigated in a playroom session while they were iteracting with one of their parents. High-functioning children with a PDD were found to differ from the other groups in social responsivity. Low-functioning children with a PDD differed from high-functioning children with a PDD in the total number of social bids, type of social bids, number of looks at parent and social responsivity. When parents structured the behaviour of their children, this resulted in an increase in number of social bids and looks in the low-functioning children with PDD.     

Inappropriately high plasma insulin levels in suspected perinatal asphyxia

The aim of this study was to determine differences in levels of the major hormones responsible for glucose homeostasis (insulin and glucagon) in babies with acute neonatal encephalopathy secondary to perinatal asphyxia and to correlate these with outcome. In a prospective observational study, plasma insulin, C-peptide, glucagon and serum glucose levels were determined using standard techniques at specified times in term babies with a diagnosis on admission of perinatal asphyxia or acute neonatal encephalopathy. The setting comprised two university-affiliated, regional, tertiary level neonatal intensive care units. Thirty-one babies with a diagnosis of perinatal asphyxia or acute neonatal encephalopathy were entered into the study over 15 months and neurodevelopmental outcomes at 18 months of age for 28 babies were available for analysis. Babies with a poor neurodevelopmental outcome had significantly higher insulin and C-peptide levels than those who had a good outcome. Glucose delivery, serum glucose and glucagon levels did not differ significantly between the babies with a poor outcome and those with a good outcome. In conclusion, babies with significant foetal or neonatal asphyxia frequently have inappropriately high plasma insulin levels. This, either alone or in combination with other hormonal disturbances, may lead to the hypoglycaemia often associated with severe asphyxia and may predict a poor outcome.     

The influence of trisomy 21 on the incidence and severity of congenital heart defects in patients with duodenal atresia

Duodenal atresia is associated with a wide variety of congenital malformations. Trisomy 21 occurs in approximately one-thirds of infants with duodenal atresia. Congenital heart disease in patients with trisomy 21 and duodenal atresia is well known. However, the frequency and spectrum of congenital heart defects in infants with duodenal atresia and a normal karyotype has not been outlined in the literature. Therefore, we conducted a retrospective chart review to clarify our knowledge about this population. Retrospective review of the medical record was performed on patients with duodenal atresia/stenosis from January 1995 to September 2007. Demographic data included birth weight and gestational age. Variables of interest included cardiac defects and karyotype. Surgical repair for duodenal and cardiac malformations were reviewed. Ninety-four patients with duodenal atresia/stenosis were identified. Average gestational age was 36 weeks and birth weight was 2,536 g. Trisomy 21 was identified in 39 (41%) patients. Overall, 37 patients (39.3%) had a congenital heart defect. Defects were identified in 24 (61.5%) patients with trisomy 21, when compared to 13 (23.6%) patients with a normal karyotype. Of the patients with congenital heart defects and trisomy 21, 11 (28.2%) required operative repair compared to the 6 (10.9%) patients with a defect and normal karyotype. Therefore, in patients with duodenal atresia, the presence of trisomy 21 carries a relative risk of 2.61 for congenital heart defects, and relative risk of 2.59 for open heart surgery. In patients with duodenal atresia, the presence of trisomy 21 carries a 2.5-fold increased risk of cardiac defect and the same increased risk for repairing a cardiac defect.     

Serum levels of 25‐hydroxyvitamin D in mothers of Swedish and of Somali origin who have children with and without autism

Aim: To analyse serum levels of 25‐hydroxyvitamin D in mothers of Somali origin and those of Swedish origin who have children with and without autism as there is a growing evidence that low vitamin D impacts adversely on brain development. Method: Four groups of mothers were invited to participate; 20 with Somali origin with at least one child with autism, 20 with Somali origin without a child with autism, 20 of Swedish origin with at least one child with autism and 20 with Swedish origin without a child with autism. Two blood samples were collected from each individual; during autumn and spring. Results: Between 12 and 17 mothers from the different groups accepted to participate, both groups of mothers of Somali origin had significantly lower values of 25‐hydroxyvitamin D compared with Swedish mothers. The difference of 25‐hydroxyvitamin D between mothers of Somali origin with and without a child with autism was not significant. Conclusion: Our findings of low vitamin D levels in Somali women entail considerable consequences in a public health perspective. The observed tendency, i.e. the lowest values in mothers of Somali origin with a child with autism was in the predicted direction, supporting the need for further research of vitamin D levels in larger samples of Somali mothers of children with and without autism.     

Is attention deficit hyperactivity disorder a valid diagnosis in the presence of high IQ? Results from the MGH Longitudinal Family Studies of ADHD

BACKGROUND: The aim of this study was to assess the validity of diagnosing attention deficit/hyperactivity disorder (ADHD) in high IQ children and to further characterize the clinical features associated with their ADHD. METHODS: We operationalized giftedness/high IQ as having a full scale IQ >/=120. We identified 92 children with a high IQ who did not have ADHD and 49 children with a high IQ that met diagnostic criteria for ADHD who had participated in the Massachusetts General Hospital Longitudinal Family Studies of ADHD. RESULTS: Of our participants with ADHD and a high IQ, the majority (n = 35) met criteria for the Combined subtype. Relative to control participants, children with ADHD and high IQ had a higher prevalence rate of familial ADHD in first-degree relatives, repeated grades more often, had a poorer performance on the WISC-III Block Design, had more comorbid psychopathology, and had more functional impairments across a number of domains. CONCLUSIONS: Children with a high IQ and ADHD showed a pattern of familiality as well as cognitive, psychiatric and behavioral features consistent with the diagnosis of ADHD in children with average IQ. These data suggest that the diagnosis of ADHD is valid among high IQ children.     

Idiopathic nephrotic syndrome: a clinical approach

Children with new-onset nephrotic syndrome invariably present to general paediatrics in the first instance. Many with known nephrotic syndrome under the care of a paediatric nephrologist will present to local services with complex relapses. Using a case-based approach, this review aims to equip the general paediatrician with the skills: to assess and manage a child with a new presentation of nephrotic syndrome, to identify the complications associated with the nephrotic state, to choose the most appropriate steroid regimen and to identify those patients who should be referred to a paediatric nephrologist. We focus on the management of steroid-sensitive nephrotic syndrome (SSNS), the most common diagnosis in children presenting with nephrotic syndrome. We also discuss aspects of management of nephrotic syndrome relevant to the COVID-19 pandemic. Additionally, by the end of the article, the reader should have a basic understanding of the underlying pathophysiology of nephrotic syndrome and its resultant complications.     

TREATMENT OF CYSTINOSIS WITH A DIET POOR IN CYSTINE AND METHIONINE

Two siblings with cystinosis are presented. Case 1, a 16-month-old boy, presented with a severe renal tubular insufficiency. Case 2, a 7-year-old girl, was a dwarf with both glomerular and tubular renal insufficiency. Case 1 was initially treated with high doses of vitamin D₂ and electrolyte supplements for more than 2 months without significant alteration of the condition. Thereafter he was treated for 23 days with 150 mg penicillamine per day again without any significant clinical or biochemical improvement. Both patients were then followed through 1 year on treatment with a diet poor in cystine and methionine supplemented with cholinechloride, an anabolic steroid, high doses of vitamin D₂, electrolytes, oral iron and a combined vitamin preparation. After some time there was considerable difficulty in giving the patients sufficient amounts of the diet, consequently the diet had to be modified with supplement of cow's milk. On this treatment case 1 attained a distinct clinical improvement with healed rickets and normal growth. There was no evidence of mobilisation of the stored cystine. Case 2 obtained a healing of the rickets and some gain in height during the treatment, but otherwise the general condition was unaltered, and she continued to have increasing renal glomerular insufficiency.     

输尿管镜术治疗学龄前儿童输尿管中下段结石

目的 评价输尿管镜取石术治疗学龄前儿童输尿管中下段结石的疗效与安全性。方法 2001年2月-2006年4月，13例学龄前儿童输尿管中下段结石患儿接受不同方式输尿管镜术治疗，回顾性分析其临床资料。结果 13例患儿中，1例输尿管末端结石患儿逆行入镜及置入导丝失败改开放手术，2例行Ⅰ期6．5／8．5Fr输尿管半硬镜下钬激光碎石，2例行Ⅰ期硬性扩张后8／9．8Fr输尿管硬镜取石，1例行Ⅰ期气囊扩张后8／9．8Fr输尿管硬镜下取石，7例Ⅰ期输尿管置管被动扩张1～3周后，Ⅱ期8／9．8Fr输尿管硬镜下取石。12例息儿共接受19次输尿管镜术，结石全部取出，无输尿管穿孔等严重并发症。随访3～12个月，4例（1例I期硬性扩张，3例置管被动扩张）患儿接受排尿性膀胱造影未见膀胱输尿管反流，5例（2例Ⅰ期6．5／8．5Fr输尿管半硬镜下钬激光碎石术，3例Ⅰ期置管被动扩张）行静脉肾盂造影未见输尿管开口狭窄及肾积水。结论 输尿管镜术治疗学龄前儿童输尿管中下段结石直接明了，安全有效，作为ESWL的有益补充。     

Fetus in Fetu: A Case with Complete Umbilical Cord and Fetal Sac

The authors present a retroperitoneal fetus in fetu in a 3-month-old girl. A 15-cm cystic mass with a monstrous fetuslike structure surrounded by a complete sac containing serous fluid was removed from the left retroperitoneal space. The draining vessel of the cystic mass was connected to the right renal vein of the host. The included fetus weighed 380 g. It had a well-developed umbilical cord, four extremities, head, buttock, and vertebral bodies with a meningomyelocele. The thoracic cavity of the included fetus had only a saclike foregut structure, but the abdominal cavity revealed a full length of intestine with a Meckel diverticulum, bilateral ovaries, urinary bladder, and cloaca with external opening. The cephalic end was composed of well-developed tooth germs, tongue and buccopharynx, mandible, maxilla, sphenoid bone, and salivary glands. Chromosomal study showed 46,XX with a normal G banding pattern. We report this case as an example of fetus in fetu with a complete umbilical cord and fetal membrane.     

Pilomyxoid astrocytoma in a patient with neurofibromatosis

Pilomyxoid astrocytoma (PMA), a recently described variant of low-grade astrocytoma is associated with a high rate of recurrence and a propensity for CSF seeding. While cases of PMA have been reported in infants and young children, there has been no report of PMA in patients with neurofibromatosis. The first reportable case of PMA occurring in a child with neurofibromatosis type 1 (NF1) is described. Following presentation with obstructive hydrocephalus, the patient underwent a partial resection of a third ventricular tumor. Histology confirmed the typical features of PMA. The patient demonstrated a partial response to chemotherapy. The authors review the literature on PMA and discuss the specific issues associated with this diagnosis in the context of a child with neurofibromatosis.     

Berlin heart ventricular assist device as a long‐term bridge to transplantation in a Fontan patient with failing single ventricle

The use of VADs as a BTT in children with heart failure has increased due to enhanced device design and reliability, leading to improved survival, functional capacity, and quality of life. However, the use of VADs in patients with Fontan physiology as a BTT is rare with few case reports. Here, we describe a case of implantation of the Berlin VAD as a BTT for 179 days, one of the longest reported periods of mechanical support, in a child with failing single ventricle.     

Unusual manifestations of a common gastrointestinal disorder

We present an instructive case of a 13‐year old male who presented with bilateral scrotal redness, swelling and tenderness, but with a normal testicular exam. His scrotal swelling persisted despite treatment with intravenous antibiotics, and on further history he reported 2 years of intermittent upper lip swelling. After a referral to a dermatologist, a lip biopsy showed granulomatous changes and he was referred to the gastroenterology department. A gastroscopy and colonoscopy was performed and histology confirmed non‐caseating granulomas consistent with Crohn's disease (CD). Eighteen months after the diagnosis of CD he developed perianal disease with a fistula and distal anal stricture. He was successfully treated with insertion of a seton and escalation of therapy to azathioprine and infliximab. CD is a phenotypically diverse chronic inflammatory condition with an increasing incidence in Australia and other Western countries. Non‐typical presentations, such as perianal manifestations or orofacial granulomatosis, can be the only presenting symptom in CD, and this highlights the importance for a high degree of clinical suspicion. Genital involvement is rare, but reported.     

Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) treated with 2-chlorodeoxyadenosine

Sinus histiocytosis with massive lymphadenopathy (SHML) or Rosai-Dorfman disease (RDD) is a rare but well-defined histiocytic proliferative disorder of unknown etiology that usually presents with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia in an otherwise healthy child. Although many patients undergo spontaneous remission, a subset of patients with systemic disease has a more serious course. For those patients with a poor outcome, steroids and chemotherapeutic agents such as etoposide or 6-mercaptopurine plus low dose methotrexate have been used. We present a child with a massive cervical lymphadenopathy treated with 2-chlorodeoxyadenosine (2-CdA, cladribine) after other approaches failed.     

Fluctuation in the concentrations of vanillylmandelic acid and homovanillic acid in mass screening for neuroblastoma

Fluctuations in the amount of vanillylmandelic acid (VMA) and homovanillic acid (HVA) were studied in random urine samples from 13 infants with neuroblastoma. In patients with a small tumour, many samples contained amounts below the cut off values, suggesting that detection of a patient with neuroblastoma depended on mathematical probability. Using high performance liquid chromatography a patient with a tumour of about 10 g may well be overlooked, whereas a patient whose tumour weighs over 30 g would probably be detected. With qualitative screening, although more likely to miss a patient with low VMA excretion, a patient with a tumour weighing over 50 g would be detected. In a thorough hospital examination care should be exercised in interpreting borderline values of VMA and HVA; excretion information suggesting the existence of a tumour may aid localization by radiological imaging procedures.