Cholelithiasis associated with haemolytic-uraemic syndrome

Cholelithiasis occurs infrequently in the paediatric age group. Hereditary spherocytosis, sickle cell anaemia and thalassemia are the haemolytic disorders most commonly associated with development of gall stones in paediatric age group. The question is whether an isolated episode of haemolysis can cause gallstones.     

Cholestatic jaundice in the haemolytic-uraemic syndrome: a case report.

The haemolytic-uraemic syndrome is the term used to describe the symptom complex of acute oliguric renal failure, haemolysis, and thrombocytopaenia. The pathogenesis of the syndrome is unknown though several factors have been postulated as important. Gastrointestinal disease is now recognised as a regular feature of the syndrome but hepatic involvement is uncommon and limited to occasional jaundice, hepatosplenomegaly and rises in serum transaminase values. A patient is described in whom cholestatic jaundice occurred during the prodromal illness. Its presence is unexplained but might indicate infection with an unrecognised hepatotropic agent or else lack of enteral nutrition during the prodromal phase.     

Insulin-dependent diabetes mellitus as long term complication of haemolytic-uraemic syndrome

Haemolytic-uraemic syndrome (HUS) is a rare cause of insulin-dependent diabetes mellitus during the acute stage. We previously reported the case of a 3-year-old girl having presented with typical HUS with diarrhea, microangiopathic anaemia, thrombocytopenia and acute renal failure (17 days of anuria). Transient hyperglycaemia (highest level: 513 mg/dl) was observed, requiring continuous intravenous insulin infusion for 9 days. Subcutaneous insulin injections were stopped after 24 days. Oral glucose tolerance test performed 4 months after normalization of blood glucose was normal. HLA DQ genotype (DQA1-DQB1.AZH/DQA3-DQB3.1) was not at risk for type 1 diabetes and there were no auto-antibodies (ICA and IAA). The 3-years follow-up was marked by persistent arterial hypertension, proteinuria and slight renal insufficiency despite angiotensin-converting enzyme inhibitor treatment. Ten years after HUS occurred (the patient had been lost to follow-up for 7 years), she came back with complaints of headache but neither polyurodipsia nor weight loss. She was found to have arterial hypertension. Chronic renal impairment had moderately progressed with decreased glomerular filtration rate (63 ml/min/1.73 m2) and proteinuria (2 g/24 hours). Fasting blood glucose was 189 mg/dl and reached 315 mg/dl during an oral glucose tolerance test. HbA1c level was 8.2% (N<6.2%) and diabetes mellitus was diagnosed without any signs of autoimmunity (IAA, ICA, GADA and IA2B were negative). Good glycaemic control was obtained with 0.5 U/kg/day of insulin. In conclusion, transient beta-cell dysfunction complicating HUS acute stage may evolve to overt non-autoimmune diabetes mellitus (microangiopathic process?), even after a long free interval. This case emphasizes the need for a long-term follow-up of patients with HUS.     

The stagnant loop syndrome in childhood

Four children presenting with a range of signs and symptoms were found to have chronic intestinal obstruction. Presentations included massive uppergastrointestinal bleeding, chronic weight loss simulating neoplasm, and profound megaloblastic anemia. The pathophysiology involved and a brief review of stagnant loop syndrome in childhood are discussed.     

Cogan's syndrome in childhood

We present a case of Cogan's syndrome in childhood presenting with arthralgia, myalgia, anorexia, uveitis, aortic regurgitation, and intermittent fever and who responded well to corticosteroid therapy and successful valvular replacement. The extensive diagnostic methods and a review of the literature are covered and intended to familiarize pediatricians with this rare but treatable disorder.     

Nephrotic syndrome in childhood

Childhood nephrotic syndromes are most commonly caused by one of two idiopathic diseases: minimal-change nephrotic syndrome (MCNS) and focal segmental glomerulosclerosis (FSGS). A third distinct type, membranous nephropathy, is rare in children. Other causes of isolated nephrotic syndrome can be subdivided into two major categories: rare genetic disorders, and secondary diseases associated with drugs, infections, or neoplasia. The cause of idiopathic nephrotic syndrome remains unknown, but evidence suggests it may be a primary T-cell disorder that leads to glomerular podocyte dysfunction. Genetic studies in children with familial nephrotic syndrome have identified mutations in genes that encode important podocyte proteins. Patients with idiopathic nephrotic syndrome are initially treated with corticosteroids. Steroid-responsiveness is of greater prognostic use than renal histology. Several second-line drugs, including alkylating agents, ciclosporin, and levamisole, may be effective for complicated and steroid-unresponsive MCNS and FSGS patients. Nephrotic syndrome is associated with several medical complications, the most severe and potentially fatal being bacterial infections and thromboembolism. Idiopathic nephrotic syndrome is a chronic relapsing disease for most steroid-responsive patients, whereas most children with refractory FSGS ultimately develop end-stage renal disease. Research is being done to further elucidate the disorder's molecular pathogenesis, identify new prognostic indicators, and to develop better approaches to treatment.     

Turner syndrome in childhood and adolescence

Turner syndrome (TS) is the most common chromosomal disorder causing short stature in females. The short stature is caused at least in part by haploinsufficiency of the short stature homeobox (SHOX) gene. Complete spontaneous puberty may occur in approximately 16% of patients, with spontaneous pregnancy in up to 4%. The final height of untreated TS girls is 86-88% of the mean adult female height. Growth hormone (GH) given alone or with oxandrolone improves final height. The major factors determining the outcome of GH therapy are the dose of GH used and the number of years of GH therapy prior to oestrogenization. Pubertal induction in TS should be individualized bearing in mind growth optimization and psychological issues. Adolescents and adults with TS may face a range of medical, fertility and psychosocial issues. Psychological support for TS individuals and families is important throughout life and should ideally be provided by both health professionals and TS support groups.     

Beh?et syndrome in childhood

Beh?et's syndrome represents a multisystemic disease with vasculitic changes. It manifests mainly with oral and genital ulceration, ocular involvement mostly uveitis and typical skin lesions. Further symptoms can develop: arthritis, gastrointestinal signs, thrombophlebitis and neurologic disturbances. The disease can start already in childhood and follows a chronic recurrent course. Diagnosis is often delayed by a long interval between manifestation of each of the several symptoms. In this regard diagnostic criteria which consider clinical findings have proved helpful. Courses of Beh?et's syndrome in three juvenile patients whose disease started in childhood are demonstrated and discussed together with experience from the literature.     

Sick sinus syndrome in childhood.

The clinical and electrocardiographic findings in five children with the sick sinus syndrome and an otherwise normal heart are described. There were three boys and two girls. Their age at onset of either bradycardia or symptoms ranged from 1 day to 7 years. In one patient, the youngest ever reported with this syndrome, bradycardia was noted before birth. Four children presented with neurological symptoms--attacks of dizziness, fainting spells, or syncope. One boy, treated for epilepsy before the underlying arrhythmia ws diagnosed, died suddenly while playing. One child had near-fatal syncope caused by ventricular tachycardia. Continuous 24-hour electrocardiographic monitoring is the best method of assessing the severity of the condition. Sinus bradycardia, sinuatrial block, and periods of sinus arrest up to 4.8 seconds were recorded. Two patients had associated atrioventricular block and were therefore presumed to have binodal disease. Atrial fibrillation or flutter occurred in three patients. Isolated sick sinus syndrome may be a life-threatening condition in childhood for which, in selected cases, the insertion of a permanent pacemaker is indicated.