Andreas Rett and benign familial neonatal convulsions revisited.

In 1964 Andreas Rett published the first account of a family with benign familial neonatal convulsions (BFNC). The authors retraced Rett's family and report that the clinical and genetic features of this original family fit the currently accepted definitions of BFNC. They also consider the career of Dr. Rett, a researcher and social reformer as well as an advocate for the rights of children with developmental disabilities.

Long-term follow up of a new case of hawkinsinuria.

UNLABELLED: Hawkinsinuria is a rarely diagnosed autosomal dominantly transmitted inborn error of tyrosine metabolism with impaired conversion of 4-hydroxyphenylpyruvate to homogentisate. As a consequence of the defective 4-hydroxyphenylpyruvate dioxigenase activity, large amounts of the unusual, ninhydrin-positive amino acid hawkinsin and later on in life 4-hydroxycyclohexylacetic acid are formed and excreted. Clinically the disease is characterised mainly by chronic metabolic acidosis and severe growth retardation as a result of protein overload. As the ability to form 4-hydroxycyclohexylacetic acid and thereby to cope with the still not very well defined reactive and toxic intermediates increases, clinical symptoms vanish. We report here a new patient with hawkinsinuria having experienced a series of admissions because of unclear hepatopathy, growth retardation, and renal tubular acidosis. CONCLUSION: Prolonged tyrosyluria in the newborn and young baby should cause the clinical chemist not only to exclude tyrosinaemia, galactosaemia, and fructose intolerance but also to look carefully for hawkinsin in the aminoacid chromatogram.

Theophylline for infants with abnormal pneumographic results. A randomized double blind, placebo-controlled trial.

To evaluate the effectiveness of theophylline on density of central apnoeas and on incidence of periodic breathing; to compare the effect with age-related resolution of pneumogram abnormalities. Ninety-six infants (mean age 27.4 days; mean birth weight 2502 gm) with abnormal pneumographic results were randomly allocated to receive theophylline or placebo. The control group consisted of 94 healthy age- and weight-matched infants. After four weeks of treatment infants in the theophylline group had a significantly lower incidence (2.1% vs. 4.3%) and density of apnoeas > or = 15 sec (0.001 vs. 0.003). There were significantly less short apnoeas (> or = 6 sec.) in theophylline treated than in control infants (p < 0.01). The number of periodic breathing episodes showed a significant, presumably age-related reduction in both treatment groups. We conclude that theophylline is an effective agent in reducing the incidence and duration of apnoeas beyond what would be expected from age-related maturation of breathing.

[Atopic dermatitis and food allergy in infancy and childhood]. / Atopische Dermatitis und Nahrungsmittelallergie im Säuglings- und Kindesalter.

Food allergies are causal factors for atopic dermatitis (AD) in 50% in infancy, in 20 to 30% in childhood, and only in 10 to 15% after puberty and in adulthood. Cow's milk, egg, fish, wheat, soy, nuts and citrus-fruits are the most proven allergens. Pseudoallergens, especially food-additiva, have to be regarded too. For the proof of the clinical relevance that food allergy is causing AD a positive result of elimination and provocation has to be required. When by these diagnostic procedure a special food is found as causing the AD it has to be eliminated in the diet of this patient. In severe cases of AD semi-elementary respectively few foods diets may be necessary. However in most cases of AD the "diet of choice" is an age related normal nutrition. To delay respectively to avoid the manifestation of atopy special recommendations for the nutrition of high risk newborns and infants (especially long breast feeding, late solid feeding) should be considered.

[Obstructive apnea in premature and young infants]. / Obstruktive Apnoen bei Frühgeborenen und Säuglingen.

The occurrence of obstructive apneas in premature and young infants is associated with a higher risk for SIDS. In order to assess the incidence of obstructive apnoeas in infants with different risk for SIDS pneumography was performed including the registration of the nasal air flow in 312 children: 69 preterm infants, 42 children after intensive care, one infant that later died of SIDS, 14 children after ALTE, 84 children after apnoeas observed by their parents, 25 siblings of SIDS-victims and 77 controls. Obstructive apnoeas were found in 24.6% of the preterm infants, in 28.5% of the children after intensive care, in 50% of the children after ALTE and in the one infant that later died of SIDS. Obstructive apnoeas however were registered only in 16.7% in the "apnoea-group", in 12% of the SIDS-siblings and in 11.7% of the controls. We therefore conclude that obstructive apnoeas which were observed more frequently in children with a higher risk for SIDS are of predictive value for the SIDS risk. Pneumography should therefore include the measurement of the nasal air flow. Home monitoring should be performed with devices that are able to assess bradycardias as indirect signs of obstructive apnoeas.

[Guidelines for tuberculin diagnosis. Consensus paper of the Austrian Society of Lung Diseases and Tuberculosis]. / Richtlinien zur Tuberkulindiagnostik.Konsensuspapier der Osterreichischen Gesellschaft für Lungenkrankheiten und Tuberkulose.

Three facts made new guidelines for tuberkulin skin-testing in Austria necessary: the low incidence of tuberculosis, the stop of routinously performed BCG-vaccination in neonates and the increasing importance of infections with atypical mycobacterials. According to analogous guidelines in Germany, Switzerland, the USA, and other countries and related to the Austrian specifities in tuberculosis situation the authors present guidelines thought as a consensus-paper of the Austrian Societies for Lung Diseases and Tuberculosis and for Pediatrics. The most essential guideline include that tuberkulin skin testing as a screening method with multiple puncture tests cannot further be recommended, and that the Mendel-Mantoux-test is the gold standard test. Only this test is sensitive and specific enough for case-finding and for giving indication to start a preventive or curative chemotherapy. The cut-off size of reactive areas for positive Mendel-Mantoux tuberculin-reaction are presented in this paper and also the consequences what is to decide in relationship to the test result.

[Extrapulmonary tuberculosis in childhood. Case reports from a pediatric specialty hospital]. / Extrapulmonale Tuberkulose im Kindesalter. Fallberichte aus einem pädiatrischen Schwerpunktkrankenhaus.

The immigration of people from countries with high incidence of tuberculosis has led to an increased number of cases of tuberculosis in Austria. The number of cases of extrapulmonary tuberculosis has increased too. The variability of the clinical presentation of extrapulmonary tuberculosis which can affect almost every organ system makes it essential to include it in the differential diagnosis of any infectious disease. Early identification and rapid onset of therapy are most important for recovering without complications and avoidance of longterm sequelae. 9 cases of extrapulmonary tuberculosis in the Gottfried von Preyer Children's hospital from 1989 to 1992 show the different clinical features of this disease. 3 cases of tuberculous lymphadenitis, 1 case of tuberculosis of the adenoids, 1 case of tuberclulous pleurits, 3 cases of gastrointestinal tuberculosis and 1 case of a tuberculous meningitis and osteomyelitis are described. All 9 children recovered with antituberculous treatment without complications or sequelae.

[Recommendations for treatment of acne vulgaris]. / Empfehlungen zur Behandlung der Akne vulgaris.

Acne vulgaris is by far the most prevalent of adolescent skin disease, involving 60-80% of the teenage population. By androgen-stimulation the production of sebum is increased and by hyperkeratinisation the canal of the pilosebaceous follicle will be closed, thereby causing formation of comedones. These will get infected with Propionibacterium acnes. The treatment of acne vulgaris therefore consists in 4 steps: sebosuppression (with Benzoylperoxid), keratolysis (with Vitamin A-acid and Azelainacid), bakteriostasis and stopping inflammation (with antibiotics). A mild cure of the affected skin is necessary too.

[Guidelines for completing a medical certificate for obtaining a higher rate of family assistance in atopic dermatitis]. / Richtlinien zur Ausstellung einer ärztlichen Bestätigung zum Bezug einer erhöhten Familienbeihilfe bei atopischer Dermatitis.

This paper gives guidelines for medical doctors in which cases of atopic dermatitis an attestation--according to austrian law--can be given to get an elevated family subvention. Following points have to be taken into consideration: correct diagnosis of atopic dermatitis, severity of disease (more than 10% of body surface), duration of disease (more than 6 months), correct treatment with acknowledged methods, necessity of diet and psychotherapy, combination with other atopic diseases. In the rule only in infancy and for preschool aged children the attestation can be given.

[BCG vaccination]. / Die BCG-Impfung.

In the last two decades the incidence of tuberculosis in Austria has lowered very dramatically. So the danger of routineously made BCG-vaccinations in newborns got higher than the risk of Tbc-infections. The complications of BCG-vaccinations are: 1. severe local reactions (esp. purulent BCG-lymphadenitis), 2. BCG-osteomyelitis and 3. BCG-sepsis. The quantity of purulent lymphadenitis is dependent from the vaccine-type; "normal" vaccines cause 0.3%, the BCG-Pasteur Intradermal P-Vaccine caused 7.5%! Therefore the further use of this vaccine was forbidden. In Austria with January 1st 1990 the routineously vaccinations of the newborns was stopped, and since this date only special indications for BCG-vaccination are recommended (high risk of Tbc-infection).

[Initial experiences with substitution treatment of hypoparathyroidism with synthetic human parathyroid hormone]. / Erste Erfahrungen in der Substitutionsbehandlung des Hypoparathyreoidismus mit synthetischem humanen Parathormon.

In two patients suffering from hypoparathyroidism (HP) whose serum calcium and -phosphate could not be normalized with Vitamin D3-resp. Calcitriol and who continued to have tetanic convulsions, synthetic 1-38 human parathyroid hormone (1-38 hPTH) was used for treatment. In both patients the intravenous administration of 1-38 hPTH provoked a rapid increase of phosphaturia and cAMP-excretion and an increase of the serum calcium level into the normal range. The same effects, only slightly delayed, could be achieved with subcutaneous injections which the patients had learned to do themselves. In case 1, a boy aged 14 years with autoimmune-HP, the daily administration of 8.5 U/kg BW caused hypercalcemia on the 6th day of treatment; therefore the dosis was reduced to alternate day administration. In case 2, a girl aged 17 1/2 years with idiopathic HP, treatment was started with alternate day administration (7.7 U/kg BW/day of injection); serum calcium increased to levels of about 2.2 mmol/1. Side effects could not be seen. Case 1, however, developed resistance to 1-38 hPTH after 10 weeks of therapy. 1-38 hPTH can be classified as an effective substance in the treatment of HP. Optimal dose and frequency of administration cannot yet be pointed out.

[Pathogenesis and clinical aspects of atopic dermatitis]. / Pathogenese und Klinik der atopischen Dermatitis.

Atopic dermatitis (a. D.) is a chronically relapsing inflammatory disease of the skin caused by a genetically transmitted hypersensitivity to environmental substances. Its pathogenesis is complex and multifactorial: heredity of atopic constitution, disturbances of humoral (hyperimmunoglobulinemia-E) and cellular (defect of suppressor-T-cells) immunity, abnormal vascular reactions and abnormal skin functions. A. D. shows different forms in different age groups: Eczema infantum in infancy, Eczema flexurarum in childhood and Neurodermatitis disseminata and pruriginosa while and after puberty. Typically for all forms is a pruritus and the status neurodermiticus. The healing of a. D. is spontaneously possible at any time, but not predictable for a special case.

[Recommendations and guidelines for the treatment of atopic dermatitis]. / Empfehlungen und Richtlinien zur Behandlung der atopischen Dermatitis.

Till now no causal and healing treatment of atopic dermatitis (a. D.) is known. About this fact and about the relapsing course of a. D. the parents of the atopic children have to be informed before starting treatment. The principles of treatment are avoiding of pruritus and scratching, keeping the skin cool and humid, and avoiding of bacterial superinfections. Topic steroid-treatment is very effective, dose and application however have to be strongly controlled. The nutrition of children with a. D. should be as normal as possible, extreme regimes of diet have to be avoided. Very essential is a consequent cure of the skin, especially in the symptom-free intervals, keeping the skin cool and humid and avoiding all mechanical and chemical irritants.

[Treatment of hypophyseal dwarfism with biosynthetic growth hormone]. / Therapie des hypophysären Minderwuchses mit biosynthetischem Wachstumshormon.

17 prepubertal children (12 male, 5 female) with growth hormone deficiency (GHD) were treated with a total of 12 IU/m2/week biosynthetic human growth hormone for at least three years. Growth hormone was administered daily by the subcutaneous route. Growth velocity (GV) increased from -2.75 SDS +/- 1.06 (3.58 cm +/- 0.87) to +2.91 SDS +/- 1.73 (8.6 +/- 1.3 cm) after one year of treatment. GV decreased subsequently, but remained above the pretherapeutic values. Height for chronological age increased from -2.68 SDS +/- 0.44 (pretreatment value) to -2.22 SDS +/- 0.49 SDS after one year and to -1.67 +/- 0.6 SDS after 3 years of GH therapy. Analysis of the height of each individual patient after each of the three years of treatment shows a positive correlation to the pretreatment height. Our data stress the need for early diagnosis and treatment of GHD patients because GV remains elevated for three years under therapy with 12 IU GH/m2/week in this group of GHD patients. This results in a height gain in the second and third year of treatment after catch up growth in the first year of therapy. Nevertheless, pretreatment height seems to be an important factor influencing the therapeutic results of GH administration in the individual GHD patient, stressing the need for improving the treatment schedule in patients with the most severe growth retardation.