Rare localization of extrarenal nephroblastoma in 1-month-old female infant

Extrarenal occurrence of Wilms' tumor is exceptional and the diagnosis is almost always made after surgery. The exact mechanism whereby a Wilms' tumor occurs in extrarenal tissue is unknown. The tumor is most commonly located in the retroperitoneum or inguinal region. Localization in subcutaneous tissue is extremely rare. In this paper, the case of a 1-month-old female infant with an extrarenal Wilms' tumor located in the lumbosacral region is presented. Surgical excision is the treatment of choice, and the same general therapeutic rules should be followed as when the kidney is affected.     

Physiology and treatment of hypertension

Secondary hypertension in children is a rare but important cause of morbidity and mortality. Whilst severe hypertension can be symptomatic more often it is not and blood pressure measurement is mandatory in all children at risk. The vast majority of childhood secondary hypertension is related to renal disease and treatment is with angiotensin-converting enzyme inhibitors or angiotensin receptor blockers. Primary or essential hypertension in children is being increasingly recognised. Lifestyle factors and obesity play a significant role. If long-term morbidity is to be avoided early detection assessment and intervention is required.     

Acute and crescentic glomerulonephritis

Acute nephritic syndrome is clinically characterized by hematuria, proteinuria, oliguria, and volume overload with or without azotemia and histologically be acute proliferative glomerulonephritis. Acute post streptococcal glomerulonephritis is the commonest cause in children. There is a preceding infection prior to this condition in majority. This is one of the comonest causes of renal edema in children. Early recognition, prompt and aggressive therapy and adequate follow-up are mandatory. Prognosis is usually good unless associated with severe renal failure and crescentic glomerulonephritis where the outcome is relatively poor unless treatment is early and adequate. Pathologically acute proliferative nephritis is with diffuse proliferative glomerulonephritis with or without crescents. Immunosuppressive therapy is not needed in simple acute proliferative glomerulonephritis but is essential in modifying the outcome of crescentic glomerulonephritis. Delayed resolution, severe renal failure at onset, progressive renal failure and associated systemic features like skin rashes, joint pains, hepatosplenomegaly and persistent fever are the indications for biopsy. Overall the prognosis in classical post streptococcal acute proliferative glomerulonephritis is good.     

Hypochondroplasia. Review of 80 cases

The review of 80 unpublished cases of hypochondroplasia revealed the difficulty of the diagnosis. A careful clinical and radiological study is necessary. The diagnosis is especially difficult if the spine is normal. Hypochondroplasia is also close to minor forms of achondroplasia. The transmission is autosomal dominant and the paternal age is increased like in the achondroplasia.     

Initial management of suspected poisoning in children and young people

The child or young person with suspected poisoning is a relatively common emergency presentation in paediatrics. The toxic agent is frequently known, though on occasion a significant amount of detective work is required. Fortunately, poisoning causing significant harm is rare, but the possibility is ever present. The cornerstone of assessment and management is good medical and nursing care, combined with early recourse to specialist advice when the risk or presence of significant harm is identified. An overview of the approach to these clinical situations is outlined with practical examples provided to illustrate this for common poisons.     

Evaluation of the floppy infant

This review outlines a clinical approach to the evaluation of the floppy infant. Attention is drawn to the varied manner in which the condition can present, and emphasis is placed upon a detailed assessment of characteristic clinical findings. A distinction is drawn between central and peripheral causes for hypotonia. Guidance is given regarding the importance of evaluating the child for signs of weakness, which is an important marker of neuromuscular pathology. Reference is made to situations where peripheral pathology may mimic central disorders. A diagnostic algorithm is outlined for the investigation of neuromuscular disorders, and reference is made to the discrepancy in findings that often exists between electromyography and muscle biopsy findings. Attention is drawn to available therapeutic options, as well as the importance of addressing ethical issues, which become of particular importance once a diagnosis is reached.     

抗N-甲基-D-天门冬氨酸受体脑炎与病毒性脑炎的关系

抗N-甲基-D-天门冬氨酸受体(anti-N-methyl-d-aspartate receptor,NMDAR)脑炎是一种常见的自身免疫性脑炎,近年来逐渐被神经医学领域所认识.该病具有相对一致的临床表现,脑脊液具有特异性的抗NMDAR抗体,免疫治疗有较好的临床效果.抗NMDAR脑炎与病毒性脑炎关系密切,在认识该病之前,其常常被误诊为病毒性脑炎.近来大量研究发现病毒感染是抗NMDAR脑炎的重要诱发因素,而部分病毒性脑炎尤其是单纯疱疹病毒脑炎的复发,是由病毒感染继发中枢神经系统免疫性炎性反应所致,需要进行免疫治疗.因此认识抗NMDAR脑炎及其与病毒性脑炎的关系,对患者的诊治与预后有重要影响.     

Intersex and gender assignment; the third way?

The birth of a new baby is one of the greatest wonders of nature and one of the most exciting events known to man. The first question that is usually posed by the mother or father is "is it a boy or a girl?"; without this information the new parents cannot even formulate the second question which is usually "is he/she alright?". It is no wonder that the birth of a child with complex genital anomalies where the sex of rearing is uncertain at birth, presents difficult clinical and ethical issues.     

Reye syndrome (author's transl)]

Reye's syndrome is characterized by severe encephalopathy and fatty infiltration of the liver. Probably this is a polyetiological syndrome. In most cases the disease is preceded by influenza B or varicella infection. As known to date, damage to mitochondria is the essential feature. Therapy is symptomatic. A review is given of the clinical symptoms and of the many unsolved problems of pathogenesis.     

Torsion of the spleen in children]

The wandering spleen is caused by congenital absence of fixating ligaments or abnormally long ligaments. It is an uncommon clinical entity, which rarely affects children. The clinical presentation of wandering spleen is variable, but the most dangerous complication is splenic torsion. A 7 year-old boy presented with abdominal pain and vomiting. The abdominal ultrasound scan discovered spleen ischemia. Volvulus of the spleen was evoked. Laparotomy was carried out and the patient underwent splenectomy. In this case the anatomical means of spleen fixity were absent. Because wandering spleen is uncommon in the paediatric population, a heightened awareness of the condition is required for accurate diagnosis and appropriate management. The treatment of choice is splenopexy, while if splenic necrosis is present, splenectomy is required.     

How to Optimize Current (Available) Diagnostic Tests

Isolation of mycobacterium tuberculosis is the gold standard in the diagnosis of childhood tuberculosis. However, it has inherent limitations due to paucibacillary nature of the disease in children and technical difficulties encountered in collection of appropriate sample. Thus, diagnosis is dependent on circumstantial evidence at best supported by conventional tests such as tuberculin test and chest radiograph. Several new tests are being developed but they lack ideal sensitivity and specificity. Hence, it is important to optimise use of current diagnostic tests. Clinical suspicion based on protocol developed by IAP is a pre-requisite of ordering tests and it is only then that proper interpretation is possible. Tuberculin skin test is still a useful screening test. It does help in establishing presence of infection though not necessarily disease. Attention must be paid to ideal test solution, proper technique and cautious interpretation. BCG test is not recommended. Miliary shadows and fibrocaseious cavitary lesions in chest radiograph are highly suggestive of tuberculosis in our epidemiology. CT scan is rarely necessary and is not cost and radiation-effective. It is ideal to attempt bacteriological examination in every suspected case of childhood tuberculosis. Most practical method is collection of gastric aspirate for smear and culture. It is possible to carry out this procedure in out-patient clinic. Better yield is likely with increasing expertise especially in extensive disease. Bronchoalveolar lavage is an invasive test and bacterial yield is comparable to that of gastric aspirate. Tissue collected for histopathological examination must be submitted for bacteriolgocal tests. PCR is not easily available. It has high sensitivity but lower specificity and thus, is not routinely recommended. Serology has no place in diagnosis of tuberculosis. Interferron gamma release assays are also now available. Sensitivity and specificity of Quantiferon Gold and T-spot tests have not been studied in children and hence are not recommended in routine practice. Instead of trying newer tests, it may be best to avail an expert advice in difficult cases.     

Releasable conjunctival suture for adjustable suture surgery

BACKGROUND: Adjustable sutures are widely used in adult strabismus surgery, with a second procedure performed to close the conjunctiva irrespective of whether adjustment is required. We describe a technique where the conjunctiva is closed using a buried releasable suture, eliminating the second procedure if adjustment is deemed unnecessary. METHOD: The conjunctiva is closed using a 6/0 absorbable polyglactin 910 releasable suture. It is tied in a bow, like the muscle sutures, and tucked under the conjunctiva. If adjustment is not required, the eye does not need to be touched because the conjunctiva is secured by the suture. If adjustment is required, it is easy to untie the conjunctival suture, allowing good exposure to the underlying muscle sutures. RESULTS: In our prospective series of 30 patients, we found our technique effective and patient friendly. Patients had at least 3 months of follow-up with no significant complications. CONCLUSIONS: This technique is acceptable, accessible, and time saving for both surgeons and patients. It is especially useful for anxious patients and adolescents, for whom postoperative manipulation can be difficult, and for cases where the probability of adjustment is low.     

Varus deformity of the distal end of the femur secondary to a focal fibrous lesion

Severe unilateral varus deformity of the distal end of the femur secondary to a focal fibrous lesion is reported. It is a malformative process rare at this level, this being the first report of it in the radiological literature. The conventional radiograph is pathognomonic and CT is useful in the confirmation of the fibrous tissue. Osteotomy is indicated only if the deformity progresses or the angle of varus is severe.     

Irritable bowel syndrome

OBJECTIVE: To review the pathophysiology in order to explain the clinical manifestation and treatment of this syndrome, which has not been completely explained yet. METHODS: References were searched on recent review articles, personal files, and Medline. RESULTS: Irritable bowel syndrome in children or chronic nonspecific diarrhea is a very frequent reason for pediatric gastroenterology visits. It is a benign disease and disappears with age, but may cause extreme worry to parents. The pathophysiology is still unclear, and there is not laboratory corroboration. Thus, it is frequently diagnosed incorrectly, although it has proper clinical manifestation (if there is no diet or medicine manipulation). Dietary advice is usually efficient, and is based on pathophysiologic data. The use of drug is still discussed. CONCLUSIONS: Irritable bowel syndrome must be always considered in oligosymptomatic children without signs of malnutrition, with diarrhea, between 6 months and 5 years of age. Drugs are not necessary, and their action is still unclear. Food manipulation based on pathophysiology is enough.     

Acute and crescentic glomerulonephritis

Acute nephritic syndrome is clinically characterized by hematuria, proteinuria, oliguria, and volume overload with or without azotemia and histologically be acute proliferative glomerulonephritis. Acute post streptococcal glomerulonephritis is the commonest cause in children. There is a preceding infection prior to this condition in majority. This is one of the comonest causes of renal edema in children. Early recognition, prompt and aggressive therapy and adequate follow-up are mandatory. Prognosis is usually good unless associated with severe renal failure and crescentic glomerulonephritis where the outcome is relatively poor unless treatment is early and adequate. Pathologically acute proliferative nephritis is with diffuse proliferative glomerulonephritis with or without crescents. Immunosuppressive therapy is not needed in simple acute proliferative glomerulonephritis but is essential in modifying the outcome of crescentic glomerulonephritis. Delayed resolution, severe renal failure at onset, progressive renal failure and associated systemic features like skin rashes, joint pains, hepatosplenomegaly and persistent fever are the indications for biopsy. Overall the prognosis in classical post streptococcal acute proliferative glomerulonephritis is good.     

Ossified cephalhematoma

Ossified cephalhematoma is a rare clinical entity and a pathological curiosity. Even though cephalhematoma is frequently encountered, ossified cephalhematoma is seen only sporadically and is restricted to only few case reports in the literature. Its pathogenesis is unclear, and the clinical course is different in neonates and juveniles. The risk factors are known, but why it gets ossified in some cases is not understood. We report a case of ossified cephalhematoma which developed in a 10-week-old male child in the right parietal region and discuss its possible pathogenesis.     

Leukaemias: a review

Leukaemia is the most common cancer in children. Leukaemia results from clonal proliferation of stem cells and leads to bone marrow failure. Symptoms at presentation include bruising, bleeding, pallor due to anaemia and infection. The incidence is approximately 5 in 100 000 children. The cause is largely unknown although there is a predisposition in certain congenital conditions such as Fanconi's Anaemia and Down's syndrome and there is some understanding of how genetic mutations may cause leukaemia, but this is not thought to be a single event. The treatment of acute lymphoblastic leukaemia in children older than 1 year is extremely successful and continues to improve. Treatment is tailored according to response (minimal residual disease directed). Multi-agent immunosuppressive chemotherapy, with central nervous system prophylaxis is given over 2–3 years. Acute myeloid leukaemia is five times less common than acute lymphoblastic leukaemia and is treated intensively for 4–5 months and cure rates have remained at 60–70% for two to three decades. Survival has improved due to better supportive care. Chronic myeloid leukaemia is rare and treated with tyrosine kinase inhibitors and as in preleukemic conditions (myelodyplasia) may require allogenic bone marrow transplant.     

百草枯中毒

百草枯（paraquat,PQ）属联吡啶类除草剂,口服中毒是中毒的主要途径,PQ中毒病死率极高.目前PQ中毒机制尚不完全清楚,多认为PQ吸收后,产生大量的氧自由基引起组织器官细胞膜脂质过氧化,造成多器官功能障碍,其中以肺损伤最常见且最严重,常导致肺水肿及肺纤维化.PQ中毒尚无特效解毒剂,治疗包括尽早洗胃、导泻、血液净化、免疫抑制及抗氧化等综合治疗.     

百草枯中毒

百草枯(paraquat,PQ)属联吡啶类除草剂,口服中毒是中毒的主要途径,PQ中毒病死率极高.目前PQ中毒机制尚不完全清楚,多认为PQ吸收后,产生大量的氧自由基引起组织器官细胞膜脂质过氧化,造成多器官功能障碍,其中以肺损伤最常见且最严重,常导致肺水肿及肺纤维化.PQ中毒尚无特效解毒剂,治疗包括尽早洗胃、导泻、血液净化、免疫抑制及抗氧化等综合治疗.     

Kongenitaler Hyperinsulinismus

Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in infancy and childhood. This heterogeneous disease is caused by different genetic defects in the regulation of insulin secretion. Of clinical importance is to differentiate between focal and diffuse pancreatic disease. Focal disease can be treated by operative enucleation of the lesion. In diffuse disease conservative dietary and drug treatment is favored to establish euglycemia. While diazoxide is administered orally, the long-acting somatostatin analog octreotide is given subcutaneously. Diazoxide is the treatment of choice if this results in stable euglycemia. The response to diazoxide depends on the underlying genetic defect. The main aim of treatment is to prevent recurrent episodes of severe hypoglycemia.