[Functional separation of the lungs. Ventilation strategy for unilateral blunt force thoracic trauma]. / Funktionelle Trennung der Lungen. Beatmungsstrategie bei einseitigem stumpfem Thoraxtrauma.

Independent lung ventilation was performed in a patient with severe hypoxemia (oxygenation ratio p(a)O2/F(I)O2 61 mmHg) due to unilateral blunt chest trauma and consecutive consolidation of the injured lung. Recruitment and immobilization of the consolidated lung was achieved by functional separation of both lungs with application of a mean airway pressure (p(mean)) of 28 mbar in combination with low frequency ventilation (4/min) of the injured lung. Adequate ventilation was maintained via the normal lung (p(mean) 14 mbar). This ventilation strategy stabilized oxygenation and ventilation by preventing overinflation and ventilator-induced lung injury.

Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.

Cutis laxa is characterised by redundant, inelastic skin with deep wrinkling and additional variable systemic involvement. Mutations in fibulin-4 (EFEMP2) and fibulin-5 (FBLN5) were described to be causative for autosomal recessive cutis laxa type 1 in a few families each. The female patient was born to healthy consanguineous parents. Pregnancy was remarkable for fetal overgrowth and oligohydramnios. The newborn girl showed extreme bradycardia and died perinatally. Apart from overgrowth, cutis laxa, arachnodactyly of hands and feet with contractures of the third to fifth finger, medial rotation of feet, spina bifida of the os sacrum, microcephaly and facial dysmorphism were noted. Autopsy showed collapsed lungs with hypoplastic diaphragm and signs of cervical soft tissue bleedings due to fragility of vessels. Histologic examination showed fragmentation of elastic fibres with formation of cystic cavities in the medial layer of the aorta and central lung vessels. Sequencing of the elastin, fibulin-4 and fibulin-5 genes revealed a homozygous missense mutation (p.Cys267Tyr) in the fibulin-4 gene in the patient. Our observation increases the number of cases with fibulin-4 mutations to three and extends the phenotypic spectrum of fibulin-4 mutations by microcephaly, overgrowth and arachnodactyly.

Fetal adrenal haemorrhage--two-dimensional and three-dimensional imaging.

A case of prenatal adrenal haemorrhage first detected by 2-dimensional and 3-dimensional sonography at 27 weeks' gestation is reported. Ultrasound examination showed a large cystic mass (32 x 27 x 27 mm) in the right suprarenal region of the fetus. Two weeks later, the mass had slightly increased in size demonstrating hyperechoic areas within the cyst. Further serial ultrasound examinations revealed a progressive organisation of the cystic mass associated with a moderate reduction in size. The diagnosis of adrenal haemorrhage was confirmed by postnatal follow-up sonograms as the mass decreased in size from 28 x 21 x 21 mm on day 1 to 23 x 18 x 17 mm on day 42. Course and sonographic signs were typical for adrenal haemorrhage and the neonate was therefore managed without surgical exploration. The child is developing normally at 6 months of age.

The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.

OBJECTIVES: To further define the clinical spectrum of the disease for pediatric and metabolic specialists, and to suggest that the general pediatrician and pediatric neurologist consider succinic semialdehyde dehydrogenase (SSADH) deficiency in the differential diagnosis of patients with (idiopathic) mental retardation and emphasize the need for accurate, quantitative organic acid analysis in such patients. PATIENTS: The clinical features of 23 patients (20 families) with SSADH deficiency (4-hydroxybutyric acid-uria) are presented. The age at diagnosis ranged from 3 months to 25 years in the 11 male and 12 female patients; consanguinity was noted in 39% of families. OUTCOME MEASUREMENTS: The following abnormalities were observed (frequency in 23 patients): motor delay, including fine-motor skills, 78%; language delay, 78%; hypotonia, 74%; mental delay, 74%; seizures, 48%; decreased or absent reflexes, 39%; ataxia, 30%; behavioral problems, 30%; hyperkinesis, 30%; neonatal problems, 26%; and electroencephalographic abnormalities, 26%. Associated findings included psychoses, cranial magnetic resonance or computed tomographic abnormalities, and ocular problems in 22% or less of patients. Therapy with vigabatrin proved beneficial to varying degrees in 35% of the patients. Normal early development was noted in 30% of patients. CONCLUSIONS: Our data imply that two groups of patients with SSADH deficiency exist, differentiated by the course of early development. Our recommendation would be that accurate, quantitative organic acid analysis in an appropriate specialist laboratory be requested for any patients presenting with two or more features of mental, motor, or language delay and hypotonia of unknown cause. Such analyses are the only definitive way to diagnose SSADH deficiency; the diagnosis can be confirmed by determination of enzyme activity in white cells from whole blood. We think that increased use of organic acid determination will lead to increased diagnosis of SSADH deficiency and a more accurate representation of disease frequency. As additional patients are identified, we should have a better understanding of both the metabolic and clinical profiles of SSADH deficiency.

Overwhelming postsplenectomy infection with vaccine-type Streptococcus pneumoniae in a 12-year-old girl despite vaccination and antibiotic prophylaxis.

This report describes a 12-year-old girl who developed vaccine-type pneumococcal septicemia (type 4, Danish nomenclature) 2 years after splenectomy for recurrent idiopathic thrombocytopenia despite vaccination with the 23-valent vaccine 4 weeks before surgery and antibiotic prophylaxis with penicillin V. The disease presented as high fever with shivering and vomiting followed by disseminated petechiae and a deteriorated general condition. Initial laboratory studies showed severe sepsis with leucocytopenia and thrombocytopenia, a markedly elevated CRP, and disseminated intravascular coagulation. Despite antibiotic treatment, which was initiated with clindamycin, cefotaxime and trimethoprim/sulfamethoxazole and was switched to cefotaxime and penicillin after the result of the blood culture had been obtained, the patient had to be ventilated, and hemofiltration became necessary because of acute renal insufficiency. Furthermore, she required amputation of all her toes because of severe necrosis. No type-specific pneumococcal antibody titers were detected during and after infection. It remains unclear whether the susceptibility to Streptococcus pneumoniae was due to primary failure of antibody production or a decline in antibody levels after vaccination. Patients and/or their relatives should be informed that neither vaccination nor continuous antibiotic prophylaxis can guarantee full protection against infection with S. pneumoniae in patients after splenectomy.

[Echocardiographic diagnosis of congenital diverticuli of the right and left ventricle]. / Echokardiographische Diagnose von kongenitalen Divertikeln des rechten und des linken Ventrikels.

A congenital diverticulum of the ventricle is a very rare cardiac lesion which is almost always associated with additional cardiovascular anomalies. In the majority of cases a diverticulum of the heart has been diagnosed during cardiac catheterization for evaluation of additional cardiovascular anomalies. We report noninvasive echocardiographic diagnosis of a congenital cardiac diverticulum in two patients. Noninvasive imaging of the diverticulum facilities planning of cardiac catheterization, angiographic imaging and surgical treatment of this rare anomaly.

[Technique for intraventricular application of antibiotics in bacterial meningitis of the newborn (author's transl)]. / Technik der intraventrikulären Antibiotika-Applikation bei bakterieller Neugeborenen-Meningitis.

A new technique for intraventricular application of antibiotics by means of an indwelling catheter is described for the treatment of bacterial meningitis in the newborn. In cases of neonatal gram-negative meningitis with proven ventriculitis resistant to systemic therapy alone, a ventricular tap is performed. Through the needle an indwelling catheter is inserted into the right lateral ventricle. After removal of the needle the remaining catheter is used for obtaining ventricular fluid for diagnostic purposes as well as for direct intraventricular injection of antibiotics. This catheter can easily be inserted while the child is in the incubator in a neonatal intensive care unit, avoiding neurosurgery. Our present treatment procedure for neonatal meningitis is described.

Oculo-neural involvement in an enzymatically proven case of Niemann-Pick disease type B.

Niemann-Pick disease type B was diagnosed clinically and enzymatically in a 4 years old girl presenting with hepatosplenomegaly, diffuse interstitial infiltrations of both lungs on chest roentgenograms, and foam cells in the bone marrow aspirate. Intelligence and neurological examinations were normal. Spingomyelinase activity was almost totally deficient in leukocytes and cultured skin fibroblasts. Unexpectedly, fundoscopy revealed oculo-neural involvement with a reddish-brown spot of the macula comparable to but differing in some respects from the classic cherry-red spot found in neurolipidoses. By definition patients with type B Niemann-Pick disease should have no cerebral or oculo-neural involvement. Two comparable cases have been described in the literature. The prognosis of this special type is not yet known. For classification--and especially for genetic counselling--it seems important to include the possibility of oculo-neural involvement in the diagnosis of Niemann-Pick disease type B.

Maple syrup urine disease: treatment of the acutely ill newborn.

Three patients with maple syrup urine disease were treated during the acute neonatal stage. Multiple exchange transfusions proved to be a satisfactory means of achieving rapid clinical and biochemical improvement during this phase. On the other hand, evidence is provided suggesting that in addition to exchange transfusions, a high calorie intake above 150 Cal/kg body weight/day is necessary to lower the plasma concentration of the branched chain amino acids to near-normal levels. As long as this calorie intake was not provided, further exchange transfusions failed to lower the plasma leucine concentration to below 17 mg/100 ml in one patient. It is assumed that this high calorie intake is necessary to prevent the breakdown of endogenous protein. Treatment of acute episodes in maple syrup urine disease should therefore not only eliminate the elevated alpha-keto acids and branched chain amino acids quickly (i.e. by multiple exchange transfusions or peritoneal dialysis), but in addition should provide a high calorie intake.

[The significance of factor VII-deficiency in infancy and childhood (author's transl)]. / Zur Bedeutung des Faktor VII-Mangels im Kindesalter.

Prolonged thromboplastin time but normal partial thromboplastin time in coagulation analysis lead to the diagnosis of factor VII-deficiency. The different forms of congenital and acquired factor VII-deficiency and the appropriate therapies are discussed, especially with regard to the recently available factor VII preparation.

Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies.

The most common abnormality detected by the screening of newborn infants for galactosemia is a deficiency of galactose-1-phosphate uridyl transferase due to the presence in one individual of allelic genes for the Duarte variant and for galactosemia. Clinical studies of ten untreated individuals with this genetic compound, including three adults, failed to reveal evidence of cataracts, liver disease, or mental subnormality, the major clinical complications associated with galactosemia. Galactose-1-phosphate was not detectable in umbilical cord blood from one infant. Galactose was not detectable in random blood specimens from any of the individuals and was present in only small amounts following ingestion of milk in one infant and a child. It would appear that this common gentic variation is usually, if not always, benign.

Group B streptococci: a new threat to the newborn.

8 newborns with early onset group B streptococcal infection and two patients with late onset meningitis were observed during a period of three years. Respiratory distress, early onset of apnoic spells, and roentgenographic signs of hyaline membrane disease or perinatal pneumonia may lead to early diagnosis, especially if shock develops. The fatal course can only be prevented by prompt antibiotic treatment.