Haemorrhagic shock and encephalopathy

Two infants are described with a fulminant disorder characterised by profound circulatory collaps and shock, generalised convulsions and unremitting coma, bleeding due to severe DIC, fever, diarrhoea, metabolic acidosis and renal and hepatic failure. Both infants died shortly after onset of the symptoms. Autopsy mainly revealed haemorrhages in different organs, anoxaemic lesions in the brain and a normal structure of liver and pancreas. No causative agent could be demonstrated.We believe that both patients suffered from haemorrhagic shock and encephalopathy, a mostly fatal disorder which has recently been described. Although the clinical and biochemical features are very distinctive, this syndrome is probably heterogeneous and its differentiation from some other dis-orders may be difficult. Its pathogenesis is unknown but there are some indications that intravascular activity of trypsin may play a role. During a study of the two families we obtained abnormal results of immunologic tests in most members: the interpretation of this finding remains conjectural.Haemorhagic shock and encephalopathy may occur more frequently than the restricted literature on this subject suggests. Future studies will have to deal with the question of identity and pathogenesis.Abbreviation HSE haemorrhagic shock and encephalopathy     

Hemolytic uremic syndrome: A case presenting with acute colitis

A case of hemolytic uremic syndrome (HUS) in a 3 year old boy, who presented with diffuse rectal bleeding is discussed. On barium enema, there was evidence of acute colitis with submucosal hemorrhage. The probable relationship of these findings to the pathogenetic intravascular coagulopathy and the prodromal stage of HUS is discussed.     

Acute promyelocytic leukemia presenting as a pelvic mass

The case history of a child with acute promyelocytic leukemia (APL) is reported to illustrate both an unusual presentation of APL as a pelvic mass and to review the pathophysiology and treatment of the disease. Therapy of APL consists of chemotherapy, namely adriamycin/daunomycin for remission induction, and of control of disseminated intravascular coagulation. A chloroma, if present, may require local irradiation in addition to chemotherapy. With aggressive management, the number of prolonged remissions may be greater for APL than for any other form of acute myelogenous leukemia (AML), with significant numbers of patients achieving five-year survival.     

Low antithrombin III: accurate predictor of idiopathic respiratory distress syndrome in premature neonates

A prospective study was performed in premature neonates to determine the predictive values of antithrombin III (AT III) deficiency immediately after birth, for the subsequent development of idiopathic respiratory distress syndrome (IRDS), intraventricular haemorrhage (IVH) and death. Of the 81 premature infants studied, 24 developed IRDS (30%). Of these 24 premature infants, 8 also developed IVH and 9 infants died within the follow-up period of 7 days. The mean plasma AT III level was significantly lower in the infants developing IRDS (0.23 U/ml vs 0.35 U/ml,P<0.0005). Within this study group 33 neonates of less than 30 weeks' gestation showed a prevalence for IRDS of 48%. In this group, AT III activity levels below 0.30 U/ml were 8.5 times as likely to result from infants with IRDS than from infants without IRDS. The diagnostic accuracy indices of criteria for the development of IRDS were: a sensitivity of 100%, a specificity of 88%, a positive predictive value of 89% and a negative predictive value of 100%. The predictive values for the development of IVH and occurrence of death were insignificant. Therefore, in premature neonates the combination of less than 30 weeks' gestation and an AT III below 0.30 U/ml is highly suggestive of IRDS and may facilitate the evaluation of early treatment.Abbreviations AT III antithrombin III - DIC disseminated intravascular coagulation - IRDS idiopathic respiratory distress syndrome - IVH intraventricular haemorrhage - NPV negative predictive value - PPV positive predictive value     

Hypercalcaemia-induced acute renal failure as a presenting feature of T-cell leukaemia

A 14-year-old patient presented with hypercalcaemia-induced acute renal failure. Investigation yielded a diagnosis of T-cell leukaemia. Chemotherapy resulted in complete remission, a return of serum calcium levels to normal and consequent improvement of renal function.Abbreviations ARF acute renal failure - PTH parathormone     

Echovirus Hepatic Failure in Infancy: Report of Four Cases with Speculation on the Pathogenesis

Disseminated echovirus infection with fulminant hepatic failure occurs almost exclusively in newborns. Although a relatively uncommon condition, it is on occasion associated with neonatal death accompanied by diffuse and extensive hemorrhagic necrosis of the liver and adrenals as the defining finding. We report four cases of severe systemic neonatal echovirus infection and present histologic and clinical evidence to demonstrate the two histologic patterns of liver involvement; intravascular coagulation in the early clinical course and a veno-occlusive component in later stages of the disease. Viral damage to vascular endothelium and hepatic venous endothelium by a “hit-and-run” process in the early viremic phase rather than direct hepatocyte injury is postulated to be a mechanism. Received June 26, 2000; accepted February 22, 2001.     

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.     

Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology

A study of 11 autopsied cases of the cerebro-hepato-renal syndrome of Zellweger (ZS) is reported. All cases had severe, peristent congenital hypotonia, hepatic lobular disarray, renal cortical cysts and pulmonary hypoplasia. Many had cardiovascular malformations, hepatomegaly, cerebral cortical gyral maldevelopment and pancreatic islet hyperplasia. Additional, less frequent findings are delineated. Results of iron content studies of hepatic and renal tissues are related to age of survival and possible development of fibrosis.Supported in part by American Cancer Society Junior Faculty Clinical Fellowship 237A and USPH/NIH Grants GM 20130, GM 15422 and 5 K04 HD 18982. Submitted in part as Paper No. 1881 from the University of Wisconsin Genetics Laboratory.     

Hashimoto thyroiditis,distal renal tubular acidosis,pernicious anaemia and encephalopathy: A rare combination of auto-immune disorders in a 12-year-old girl

A case of a 12-year-old girl with a multiple auto-immune disorder is reported. She showed Hashimoto thyroiditis which subsequently developed to hashitoxicosis and distal renal tubular acidosis at 5 years of age, pernicious anaemia at the age of 9 and severe encephalopathy at the age of 12. Laboratory studies revealed very high titres of anti-microsomal and anti-thyroglobulin antibodies and positive gastric parietal cell antibody. As to the encephalopathy, positive oligoclonal IgG bands and high values of IgG index and IgG synthesis ratio in CSF were observed with aggravation of her neurological symptoms. High-dose steroid therapy was effective toward the encephalopathy. Paediatricians should pay careful attention to patients with Hashimoto thyroiditis for association with other auto-immune disorders.     

Renal Granulomatous sarcoidosis in childhood: a report of 11 cases and a review of the literature

We analysed retrospectively 11 children with renal granulomatous sarcoidosis confirmed by renal histology in order to describe the course and prognosis of the disease. Symptomatic sarcoidosis was diagnosed at a mean age of 10.1 years. Nine children had renal involvement at the time of diagnosis. In the course of the disease, nine patients developed renal failure and mild proteinuria, seven had transient sterile leucocyturia, four showed microscopic haematuria, seven had a urinary concentrating defect, and enlarged kidneys were seen in three patients. One child had hypercalcaemia and hypercalciuria, none had hypertension. Light microscopy of the kidney showed interstitial infiltration by mononuclear cells in all children, interstitial fibrosis in nine patients, epithelioid granulomas in seven, tubular involvement in eight, and mild glomerular involvement in seven patients. Renal immunofluorescence was negative. Ten children received prednisone for 1–11 years. After a mean follow up of 5.5 years, three patients had entered end-stage renal failure and one had chronic insufficiency after interruption of medical supervision and prednisone therapy. Conclusion Renal failure, proteinuria, leucocyturia, haematuria, and concentration defect are the prominent features of renal granulomatous sarcoidosis in children. Steroid therapy, adjusted according to disease activity, may prevent end-stage renal failure. Received: 4 December 1997 / Accepted in revised form: 22 June 1998     

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.     

Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia

Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by bone marrow dysfunction, exocrine pancreatic insufficiency, failure to thrive, and skeletal abnormalities. It is most commonly diagnosed in early childhood after the development of hematologic abnormalities. We report a premature infant born at 33 weeks gestation who was small for gestational age and displayed persistent cytopenias requiring transfusion. Genetic testing confirmed a diagnosis of Shwachman-Diamond syndrome (SDS).     

Hurler syndrome. Early diagnosis and successful enzyme replacement therapy: a new therapeutic approach. Case report]

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder due to alpha-L-iduronidase deficiency. Its severe prognosis has been significantly improved by enzyme replacement therapy using recombinant human alpha-L-iduronidase (laronidase). We report the case of a boy who was diagnosed at 19 months of age with Hurler's disease, the most severe form of MPS I, and received thereafter a treatment by laronidase, resulting in clinical and biological improvement. The aim of this case report is to draw physicians' attention on the presenting signs of Hurler's disease, in order to enable an earlier diagnosis, increasing the treatment's benefits.     

Paediatric acute liver failure: a practical approach

Acute liver failure (ALF) in the paediatric patient is a multisystem complex disorder, which occurs in the absence of chronic liver disease. Globally, viruses remain a common cause but drugs, metabolic and autoimmune conditions are important triggers. In up to half of cases no specific cause is identified. The definition entails a coagulopathy with a Prothrombin time (PT) ≥ 15seconds or International Normalized Ratio (INR) ≥ 1.5 not corrected by vitamin K in the presence of hepatic encephalopathy (HE) or a PT ≥ 20 or INR ≥2 or above regardless of HE. HE can be difficult to recognize in children and is defined differently than HE in adults. Timely recognition of ALF improves outcomes and allows time to undertake investigations, provide supportive therapy and arrange transfer to a specialist paediatric liver centre with transplant capacity. The purpose of this article is to review the aetiologies of ALF in children and outline an approach to investigation, management and treatment.     

Arc syndrome without arthrogryposis,with hip dislocation and renal glomerulocystic appearance: a case report

Introduction  Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder first described in 1979 and recently ascribed to mutation in VPS33B whose product acts in intracellular trafficking. It exhibits wide clinical variability. Arthrogryposis, spillage of various substances in the urine, and conjugated hyperbilirubinemia define an ARC core phenotype, in some patients associated with ichthyosis, central nervous system malformation, deafness, and platelet abnormalities. Many patients with different associations of cholestasis, renal tubular acidosis, and dysmorphic morphology may be underdiagnosed. Case report  We report the third patient of ARC syndrome from Turkey with an incomplete form with renal tubular dysfunction and cholestasis in the absence of arthrogryposis but exhibiting other rare features. Conclusion  Our case highlights that the variability of involvement of different systems in ARC syndrome is well described; however, the renal glomerulocystic appearance has not been reported previously. Knowledge of this rare condition can benefit the practitioner as well as the patient.     

Essential oil poisoning: N-acetylcysteine for eugenol-induced hepatic failure and analysis of a national database

We present a 15-month-old boy who developed fulminant hepatic failure after ingesting 10 ml of clove oil. After 24 h, the ALT level was in excess of 13,000 U/l, with blood urea and creatinine of 11.8 mmol and 134 µmol/l respectively. The hepatic impairment resolved after intravenous administration of N-acetylcysteine so that 6 h later, the ALT level was approximately 10,000 U/l. His liver synthetic function and clinical status improved over the next 4 days. This is the first such case report of its kind in Europe. Analysis of a national database revealed a 14-fold increase in home accidents related to aromatherapy from 1994–1999. Clove oil has important hepatotoxic effects. Conclusion:Recent growth in aromatherapy sales has been accompanied by an unfortunate increase in accidental poisoning from these products. Clove oil warrants special attention. Ingesting as little as 10 ml causes hepatotoxicity which can be treated with N-acetylcysteine.     

Chlorambucil central nervous toxicity: a significant side effect of chlorambucil therapy in childhood nephrotic syndrome

Chlorambucil (CHL) was used in combination with prednisolone in the treatment of nine children with frequently relapsing nephrotic syndrome. Serial electroencephalograms were obtained to evaluated CHL central nervous toxicity, before, during and after treatment with this agent. EEG abnormalities were observed in two of the nine children during chlorambucil therapy. EEG changes were diffuse spike and wave complexes and disappeared after discontinuation of therapy. There were no other neurological abnormalities and more particularly, no seizures or myocloni were observed. According to the literature, chlorambucil central nervous toxicity is found almost exclusively in childhood nephrotic syndrome. Strict neurological supervision of patients treated with chlorambucil is recomended.Abbreviations NS nephrotic syndrome - CHL chlorambucil     

Branchio-Oto-Renal (BOR) syndrome: variable expressivity in a five-generation pedigree

A five-generation family with the branchio-oto-renal (BOR) syndrome is reported demonstrating the great variability of this syndrome. Symptoms of the branchio-oto, branchio-oto-ureteral, and BOR syndromes are seen in different members of this family, suggesting that these are not real entities, but variants of the BOR syndrome.     

Retroperitoneal arteriovenous malformation,a rare cause of heart failure in infancy: Consideration of therapeutic approaches

Summary We report an infant presenting with congestive heart failure secondary to a large retroperitoneal arteriovenous (AV) malformation. The heart failure was treated by catheter embolization of the feeding arterial vessels with Ivalon particles. Following resolution of the heart failure, a residual avascular mass remained. A biopsy revealed the diagnosis of an undifferentiated sarcoma that was successfully treated with chemotherapy and surgery.