Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen.

Autosomal recessive polycystic kidney disease (ARPKD) is one of the major hereditary nephropathies in children predominantly presenting in early childhood. The clinical picture is variable but there is a fatal outcome in many cases. We have performed linkage analysis in 16 ARPKD families and localized the ARPKD gene to chromosomal region 6p21-cen with no evidence for genetic heterogeneity among different clinical phenotypes. Linkage was confirmed using six adjacent microsatellite markers and the highest lod score of 7.42 was obtained with D6S272 at theta = 0.00. Our findings should lead to more accurate forms of prenatal diagnosis than those currently available using ultrasound.

Pediatric environmental medicine in Eastern Central Europe.

Pediatric environmental medicine in Central Eastern Europe needs support and development on national, institutional and individual basis. This situation is quantitatively, but not fundamentally different from what is to be found in Central Europe.

Acne of the fulminans type following testosterone therapy in three excessively tall boys.

Ulcerative acne was observed in three boys who underwent long-term treatment with high doses of testosterone for excessively tall stature. Even after withdrawal of testosterone therapy, this devastating type of acne still persisted for several months. After starting isotretinoin treatment, two cases progressed to full-blown acne fulminans with systemic manifestations. In these two cases, oral isotretinoin therapy induced multiple lesions of hyperproliferative granulation tissue resembling pyogenic granuloma. Topical steroid treatment proved to be beneficial for this adverse effect. Systemic corticosteroid treatment was administered in one case. High testosterone levels during puberty may be an important trigger mechanism of acne fulminans and may explain why this disease almost exclusively affects male adolescents.

[Meningitis following lumbar puncture]. / Meningitis nach Lumbalpunktion.

Two young children underwent lumbar puncture because of fever and convulsions. After CSF examination had initially yielded no pathological findings, both children developed purulent meningitis. Second puncture and start of antibiotic therapy had been delayed, since CSF re-examination had only been performed two days after the first puncture. The literature reports on 23 similar cases in children. Whenever the clinical course suggests meningitis, one should therefore not hesitate to carry out a second lumbar puncture, even if CSF examination had yielded no pathological findings a short time ago.

[The toxicity of mercury in amalgam dental fillings]. / Toxizität von Quecksilber in Amalgam-Zahnfüllungen.

1. A survey on the literature concerning the toxicity of amalgam is presented. 2. Opinions from various sources are discussed. It is found that there are no conclusive experimental results of clinical importance. Existing results on adults cannot be applied to children, who are more sensitive to amalgam. 3. Research into the toxicity of amalgam in children has begun. Results are expected later in 1992.

[Feer's disease]. / Die Feersche Krankheit.

Two sisters and their brother who had been exposed to mercury vapours from a broken fever thermometer were treated for acrodynia. Their urinary Hg concentrations, as well as the relatively few data that can be found in previous publications, show that the brain of children below the age of 5 years is much more sensitive to chronic mercury intoxication than the cerebrum of adults. Hg concentrations of well below 50 micrograms/l in the urine can be associated with severe symptoms. One of our patients had a mercury concentration of 6.3 micrograms/l. In adults with occupational exposure, urinary mercury concentrations of up to 200 micrograms/l are tolerated and permitted. Acrodynia possibly is not always diagnosed when it is occurring. Normal values for urinary Hg excretion in children under basal conditions and after administration of a chelating agent should be established.

[On the pharmacological treatment of acute spasmodic laryngitis (Pseudo-Croup) (author's transl)]. / Zur medikamentösen Behandlung des Pseudo-Croups.

Three aspects of the pharmacological treatment of pseudo-croup are discussed in this article. Sedatives should be given only when close clinical supervision is guaranteed. Otherwise the apparent drowsiness observed in patients passing from stage III to stage IV of the disease may be masked or misinterpreted due to these sedatives. Emetics used occasionally in the USA, and also frequently administered in Europe to the turn of the present century, are no longer used for treatment in Germany. There are no controlled studies showing their effectiveness. In contrast to the common practice in Germany, glucocorticosteroids are less frequently used in the USA. Theoretical considerations suggest their usefulness, but to data there is still no convincing proof of their clinical effectiveness.

[Side effects and complications of measles-mumps vaccination]. / Nebenwirkungen und Komplikationen der Masern-Mumps-Impfung.

Within three years we have observed three patients with parotitis after measles-mumps-vaccination, one child with idiopathic thrombocytopenic purpura, one with meningitis, and one patient with a preexisting severe cerebral damage died of central vasomotor and breath regulation dysfunction 20 days after the vaccination. Their case histories are described here, and the literature dealing with this question is reviewed. The following incidences of side effects may have to be accepted: "vaccination measles" (fever, rash, conjunctivitis, coughing) 5%, parotid swelling 1%. Furthermore, there are reports and observations on 38 patients who have developed ITP after vaccination, and on 8 other children who developed meningitis. From their lumbar liquor, mumps- or vaccine mumps viruses have been cultured. There are, as yet, no markers that would permit a typing of these viruses. Parents will have to be informed of these possible side effects and observations. In addition to that further information is not necessary on other very rare observations with as yet not established causal relationship with the vaccination. The measles-mumps-vaccination correctly is regarded as to be of low risk. Its usefulness is apparent when the frequency of side effects discussed here is compared to the incidence of grave complications of wild measles and mumps infections.

[Pelvic and femoral vein thrombosis in childhood]. / Becken- und Femoralvenenthrombosen im Kindesalter.

Deep venous thromboses in the lower extremities were observed in three boys aged 8, 10, and 12 years. In one case, it must have originated from circulatory depression during diabetic ketoacidosis. In two children, osteomyelitis was detected in the proximity; they developed septic pulmonary embolism. Osteomyelitis and septic arthritis as possible cause or consequence should be actively looked for in septic thromboembolism.

[Toxic shock syndrome in 2 girls with pharyngeal infection and wound infection]. / Syndrom des toxischen Schocks bei zwei Mädchen mit Racheninfekt und Wundinfektion.

In 1981, a 13 year old girl died of her shock lung. She had been admitted with the classical toxic shock syndrome then still unknown to us. Staphylococcus aureus had been cultured from a pharyngeal swab. But even in 1987, it took us 48 hours to correctly diagnose the toxic shock syndrome in a 17 year old girl. The diagnosis became evident when she was found to have a staphylococcus aureus wound infection after a surgical procedure. For pediatricians, it is crucial to know this syndrome well. Not only menstruating girls using tampons, but also quite young children can acquire this disease. Quick diagnosis and prompt institution of the correct therapy can be life saving.

Perforating gastric ulceration during tolazoline therapy for persistent foetal circulation.

Gastric ulcerations were observed in an infant with persistent foetal circulation treated with tolazoline. The first symptoms were noted 14 hours after institution of therapy, and free air in the abdomen was visualised 34 hours later. It is suggested that the ulcerations may have been a side effect of tolazoline. The concomitant use of cimetidine may prevent this complication.

[Infantile scurvy]. / Süglingsskorbut.

Infantile scurvy, today a rare disease, can be diagnosed either by recognition of a characteristic constellation of clinical features, or on the correct interpretation of nearly pathognomonic radiological signs. Dystrophy, recurrent infections, fever, anemia, hemorrhagic effusions, hematuria, tenderness of the legs, pseudo-paralysis and "frog position" and costochondral swelling or angulation are frequent signs. Radiologically, thickening of the epiphyseal plate ("scurvy line") and subepiphyseal rarefication , general osteoporosis and subperiostal hemorrhage are important diagnostic clues.

Long-term course of neonatal diabetes.

BACKGROUND: Neonatal diabetes mellitus--defined here as hyperglycemia occurring within the first month of life that lasts for at least two weeks and requires insulin therapy--is a very rare form of the disease. Little is known about it, particularly with respect to its long-term course. METHODS: We studied two brothers who had neonatal diabetes and obtained follow-up information on 34 patients described in the literature as well as information on 21 additional patients. Forty-seven of the patients had neonatal diabetes, as defined above, and in 10 others the onset was between the first and third month of life. RESULTS: Twenty-six of the 57 infants had permanent diabetes, 18 had transient diabetes, and 13 had transient diabetes that recurred when they were 7 to 20 years old. Neonatal diabetes was associated with the Wolcott-Rallison syndrome in six infants, hyperuricemia due to phosphoribosyl-ATP pyrophosphatase hyperactivity in two, and celiac disease in two. Forty-one of 45 neonates in whom the duration of gestation and birth weight were known were small for their gestational ages. There were two pairs of affected twins and four other families with two or more infants with neonatal diabetes, but only three parents had diabetes. The incidence of neonatal diabetes mellitus in Germany has been estimated to be 1 in 500,000 neonates. CONCLUSIONS: Neonatal diabetes differs from insulin-dependent diabetes in that its course is highly variable. Some patients have permanent diabetes, but others have transient or lasting remissions.

Sexual precocity in Klinefelter syndrome: report on two new cases with idiopathic central precocious puberty.

Precocious puberty apparently occurs more often in boys with Klinefelter syndrome than could be expected by chance. So far, reports exist on nine such patients, to which two more cases are added here. Whereas most of the previously described boys had endocrinologically active tumours, these two patients had sexual precocity of the idiopathic type.

Growth hormone and cortisol in neonates during phototherapy.

In 22 neonates plasma growth hormone (GH) and cortisol concentrations were measured during phototherapy which was administered because of hyperbilrubinemia. These values were compared to the hormone levels before and after therapy and to control values taken from healthy nursery infants. Phototherapy significantly increased GH concentrations to 195% plus or minus 108 (SD)(healthy control group = 100%). Cortisol was not found to be augmented. There was no correlation between GH and cortisol, nor between bilirubin and GH or cortisol. The mechanisms by which phototherapy induces GH increase are not evident. However, this may be due to constant covering of the eyes, deprivation of the day-night rhythm, or other environmental alterations that are brought about by incubator care.

[The EEC-syndrome. Case report and some suggestions about its pathogenesis (author's transl)]. / Das EEC-Syndrom. Fallbericht und Uberlegungen zur Pathogenese.

The clinical data of a boy with ectrodactyly, ectodermal dysplasia, and cleft lip and palate (EEC-syndrome) are presented. Until now about 80 case histories with this syndrome have been published, 30 of them having all 3 symptoms. The combination of defects in rather different organs of ectodermal as well as mesodermal origin is difficult to understand. Changes in ectodermal tissues may well be the key factor in explaining the pathogenesis of this syndrome. This is supported by evidence gained by ontogenetical research with animals.

[Steroid therapy in caustic lesions of the oesophagus]. / Zur Corticoidtherapie bei Speiseröhrenverätzungen.

Since controlled clinical studies on the value of steroid therapy do not exist, the discussion on its effect is still controversial. Several well documented studies on animals have been done since 1952. Based on these findings we can expect an inhibition of stricture formation in cases of moderate acid burns where the muscular layer is not or only slightly damaged.

[Medium-chain acyl-CoA dehydrogenase defect. Acute cerebral episodes and nonketotic hypoglycemia in children]. / Medium-Chain-Acyl-CoA-Dehydrogenase(MCAD)-Defekt. Akute zerebrale Episoden und nicht-ketotische Hypoglykämien bei Kindern.

A four-year-old and a three-year-old boy with somnolence, coma and hypoglycaemia were found to have a defect in the beta-oxidation of medium-chain fatty acids (medium-chain acyl CoA dehydrogenase [MCAD] defect). The brother of one of them had died aged 16 months of an acute disease resembling Reye's syndrome (coma, fatty liver, cerebral oedema). The other two boys have no symptoms now under daily treatment with 100 mg/kg carnitine and frequent carbohydrate-high, fat-poor meals. The MCAD defect is inherited as an autosomal recessive trait and should be considered in the differential diagnosis of unexplained loss of consciousness in children with non-ketotic hypoglycaemia or with Reye's syndrome, as well as in families with sudden infant death.

Empty sella syndrome in a boy with mucopolysaccharidosis type VI (Maroteaux-Lamy).

An 11-year-old boy with mucopolysaccharidosis type VI is presented. Because of optic atrophy, a pneumencephalogram was performed which revealed a relatively large hydrocephalus internus and a very wide, empty sella that filled with air. A Spitz-Holter valve was inserted into a lateral ventricle. STH, TSH, and cortisol response to stress, and thyroid function were normal. LH and prolactin were measurable but close to the lower normal limit. Prolactin did not rise during surgical stress. Those analyses, together with the clinical aspect, rule out severe pituitary malfunction.