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Presents information on the clinical case of a newborn infant with neonatal thrombocytopenia. Diagnosis of giant platelet syndromes; Basis of diagnosis; Cause of giant and anisocytosis platelets.

Background: Acrodermatitis enteropathica (AE) is an autosomal recessively inherited disease caused by a decreased intestinal zinc resorption and characterized by severe dermatitis (preferably hands, feet, mouth, genital region), chronic diarrhoea, retardation of growth and development, alopecia and increased proneness to infections. In 2002 it was shown that mutations in the zinc transporter gene SLC39A4 is the cause of AE., Case Report: Here we report 4 patients with typical clinical signs since early childhood. Under regular substitution with zinc all patients are more or less free of symptoms. The first patient revealed compound-heterozygous missense/nonsense mutations (P200L/ W401X), the three other patients were homozygous for a mutation in intron 1 (c.192 + 19G > A) of the SLC39A4 gene., Conclusion: The diagnosis of hereditary acrodermatitis enteropathica can now easily be confirmed by mutation analysis of the SLC39A4 gene.

The danger of ergot alkaloids has been well known for centuries. The origin and toxicology of these compounds have been clarified and flour mills assure us that they have mastered the problem technologically. Nevertheless, one can find food products with sometimes relatively high contents of these toxic alkaloids. Here we report on our experiences and results of an LC-MS/MS-method which we have developed to determine ergot alkaloids and which was applied to commercial products during the past two years.

Background: In paediatrics, numerous diseases present with the leading symptom of muscular, articular, or bone-related pain. The pain as such is seldom diagnostic with regard to pain etiology. Regularly, the significance of inflammatory as well as non-inflammatory pain is underestimated., Classification of Musculoskeletal Diseases: We present 4 case reports, illustrating the classification of musculoskeletal diseases into 4 main groups, being the basis for the modelling of disease, and pain treatment., Therapy: Pain therapy is either symptomatic or based on specific pathophysiology. Pain therapy consists of the moduls analgesics, antiphlogistics, physiotherapy, psychosocial support, and complementary therapies. We give advice on differential therapy. A transparent team-oriented concept comprising physicians, physiotherapists, ergotherapists, psychologists, and social workers is the basis for any successful long-term therapy. Regular outpatient visits in consent with the family doctor are mandatory as are education and treatment periods on ward. We encourage our patients to join formal self-supportive patient groups.

PHENOMENON PAIN: While pain is one of the main reasons for an unscheduled visit to the paediatrician, pain due to painful procedures is of major importance in scheduled visits. Actual pain therapy is illustrated in the treatment of burns. Incomplete analgesia may have an unfavourable impact on morbidity and mortality. The pain score does not correlate with the extent of the burned area, and is regularly underestimated. General anaesthesia or analgo-sedation are warranted during the care of the burned patient. INSUFFICIENT ANALGESIA: Consequence of insufficient analgesia during primary care is an increased need of analgesics, and an increased pain treatment failure rate during subsequent procedures. Pain is interfering with anxiety, sleep disturbances and post-traumatic psychologic alterations. All those symptoms must be treated adequately. ACUTE ILLNESS AND INJECTIONS: This article covers pain from otitis media, pharyngitis, Guillain-Barré syndrome, purpura fulminans, Toxic Epidermal Nekrolysis, as well as the usage of local anaesthesia during injections, not to forget the application of non-pharmacologic methods for pain therapy and prophylaxis.

Unlabelled: The necessity of the controversially discussed general steroid prophylaxis in Henoch-Schönlein Purpura (HSP) was analysed based on frequency, risk factors and prognosis of renal involvement. Case histories and follow up of at least 1.5 years were evaluated in all 171 patients (median age 6 years) in our institution suffering from HSP between 1.1.1987 and 30.6.1997. HSP was frequently manifest with an involvement of joints (64%) and gastrointestinal tract (58%). Renal involvement occurred in only 29% of the children. Excepted one girl (age 12 year), all children with renal disease completely recovered. Renal involvement was significantly rarer in young children (16%) and after one week therapy with prednisone (7%). In young children, renal involvement always followed abdominal pain., Conclusion: In our collective, a general preventing of renal disease in HSP was unnecessary. Especially in young children, the most common manifestation age, renal involvement rarely occurred and had always a good prognosis.

Spondylodiscitis is a frequently unrecognized disease in childhood because of unspecific symptoms and late arising or radiological signs. The heterogeneous symptoms, the value of diagnostic procedures and the outcome of 8 patients suffering from spondylodiscitis in the time period of 1989 to 1995 are demonstrated. Guiding symptoms were back pain and refusal to walk or sit. Furthermore, abdominal pain and psoas abscess were the only symptoms in two cases. The pathogenomonical narrowing of the disc space arose in X-ray films earliest 3 weeks after onset of symptoms. The MRI was the best method for early diagnosis and detection of complications. In contrast to persistent radiological changes the clinical outcome was good in most of the patients.

Between 1991 and 1996 three cases of MCAD-deficiency (medium-chain-acyl-Co-A dehydrogenase deficiency) were diagnosed in the Vestische Kinderklinik. All patients showed hypoketotic hypoglycaemia with hyperuricaemia. In the group of hypoketotic hypoglycaemia without lactat acidosis MCAD-deficiency is the only metabolic disease presenting regularly with hyperuricaemia. Thus, hyperuricaemia in a patient with hypoketotic hypoglycaemia is a strong indicator for MCAD-deficiency. Measurement of uric acid is easily available before sophisticated metabolic analysis are completed.

A twelve year old boy presented with a sudden onset of recurrent nausea and vomiting. During the past six weeks he had a weight loss of 13 kg. While he was in the hospital, persistent tachycardia and a slightly elevated blood pressure were noted. The gastroenterologic, cardiologic and neuropediatric examinations were normal. To exclude the differential diagnosis of hyperthyroidism, thyroid hormones were checked. They showed clearly elevated levels of tri-iodothyronine and thyroxine, while thyrotropin was suppressed. The boy did not have a goiter. Under thyrostatic therapy his clinical condition improved quickly. Among our 20 patients with hyperthyroidism he was the only one whose main symptom was severe vomiting.

This study represents a multicenter survey on the management of patients with Crigler-Najjar syndrome (CNS) type 1. The aim of the survey was to find guiding principles for physicians in the care of these patients. Fifty-seven patients were included. At the time of inclusion, 21 patients had received a liver transplant (37%). The average age at transplantation was 9.1 +/- 6.9 years (range, 1-23 years); the age of the patients who had not been transplanted at the time of inclusion was 6.9 +/- 6.0 years (range, 0-23 years). Brain damage had developed in 15 patients (26%). Five patients died, and 10 are alive with some degree of mental or physical handicap. In 2 patients, ages 22 and 23 years, early signs of bilirubin encephalopathy could be reversed, in 1 by prompt medical intervention followed by liver transplantation and in the other by prompt liver transplantation. Seven patients underwent transplantation with some degree of brain damage at the time of the surgery; 1 of these died after retransplantation, 2 improved neurologically, and 4 remained neurologically impaired. The age of 8 patients with and 13 without brain damage at or before transplantation was 14.3 +/- 5.9 and 5.9 +/- 5.4 years (P < .01), respectively. Therapy of CNS type 1 consists of phototherapy (12 h/d), followed by liver transplantation. Phototherapy, although initially very effective, is socially inconvenient and becomes less efficient in the older age group, thus also decreasing compliance. Currently, liver transplantation is the only effective therapy. This survey shows that, in a significant number of patients, liver transplantation is performed after some form of brain damage has already occurred. From this, one must conclude that liver transplantation should be performed at a young age, particularly in situations in which reliable administration of phototherapy cannot be guaranteed.

This is a report on diagnostic and therapeutic experience in 6 patients aged 3 weeks to 6.3 years suffering from herpes simplex encephalitis. In 2 patients, a 3-week-old newborn and a 1.3-year-old boy, acyclovir-therapy started at days 8 and 17 respectively, following the demonstration of hemorrhagic necrosis in the brain by cranial CT-scan and IgM-specific HSV-antibodies in the blood. A 6.3-year-old girl was treated with acyclovir at day 10 of her illness, when cCT showed hemorrhagic necrosis in the brain. It was not before the 21st day, that diagnosis of HSE could be confirmed serologically. She suffered a relapse of encephalitis 5 weeks later. In a 3-month-old boy, treated with acyclovir at day 4 of his illness, IgM-specific HSV-antibodies were found already at day 4. His clinical course was complicated by subdural effusion. These 4 children survived with severe neurologic sequelae. Another 2 patients, a 5- and 7.5-month-old boy respectively, survived without apparent defect. In both cases vesicles upon the tongue appeared in the beginning of illness. Acyclovir-therapy started at day 7, diagnosis being confirmed serologically later. In our experience HSE should be suspected in children suffering from fever, drowsiness and focal or secondarily generalizing seizures. In these cases antiviral therapy should not depend on serologic findings.

Chest roentgenograms made within 24 hours of death were compared to the autopsy findings. Out of 150 unselected autopsy records of the years 1973/74 and 1976/77 50 and 91 cases respectively were suitable for evaluation. Since 1973/74 the radiographic technique has been considerably changed by the introduction of powerful condenser discharge equipment and the use of highly intensifying screens. Daily discussions with the physicians in charge of the intensive care unit and routine comparison of the pathological and radiological findings were also introduced. The success of these measures is reflected in the greater diagnostic accuracy in respect of the case material for the 1976/77 period. Comparison of the findings in cases of pulmonary embolism exposed the limitation of diagnostic radiology.