[Infrared spectroscopy of urinary calculi before 1900 in votive offerings of the Bavarian pilgrimage church at Grafrath]. / Infrarotspektroskopie von alten Harnsteinen aus den Votivgaben der Wallfahrtskirche Grafrath.

BACKGROUND: The old urinary calculi of the votive offerings in the pilgrimage church at Grafrath offer the possibility of analysing the components by infrared spectroscopy to give insights into factors that might influence their formation. A total of 166 specimens were taken from 139 objects (134 stones, 5 bones), in some stones from different layers. MATERIAL AND METHODS: Spectral analysis showed typical components for urinary calculi in 127 stones. These were compared with a control group of 98 urinary stones from carriers (77 male, 21 female) during 2007/2008 in Bavaria. RESULTS: The percentage of occurrence of ammonium acid urate (NH(4)U) was high in the old stones (68.0%) versus the 2007/2008 group (1.0%). In uric acid (HS) there was no relevant difference between the two groups, whereas the occurrence of the oxalates whewellite (Whe) and weddellite (Wed) was much less in the old stones (Whe 18.1-69.4%, Wed 7.9-26.5 %). The phosphates differ in the components in favour of brushite in the old stones. The high occurrence of NH(4) in the old stones is comparable with (a) the old pre-1900 collection of Norwich (England), especially with the pre-1800 juvenile bladder stones, and (b) urinary stones in endemic areas of stone disease in children such as in North Thailand. Data about the Grafrath stone carriers (name, age, hometown) are not available but can indirectly be derived from the miracle books (1444-1728) of Grafrath with 12,131 reports; 1,165 had urologic disease of which 70% were children with urinary calculi coming from areas of Upper Bavaria and Swabia. CONCLUSION: The finding of a high NH(4)U content indicates that this area might have been a stone belt for bladder stones in children. Under- or malnutrition with low protein and low fluid intake may be the aetiologic factor.

Laparoscopic resection of a congenital liver cyst and simultaneous closure of a diaphragmatic defect in a 5-month-old infant.

Congenital liver cysts are an unusual finding and present a difficult diagnostic challenge. In a 5-month-old infant, routine echocardiography detected a cystic lesion (3 cm in diameter) just below the diaphragm. All conventional diagnostics, including magnetic resonance imaging (MRI), failed to clarify its etiology definitively. Moreover, a phrenic irregularity was suspected at the site of Morgagni. Finally, laparoscopy (5-mm scope and instruments) confirmed the diagnosis of a solitary liver cyst and a diaphragmatic defect. Using a Harmonic scalpel, the cyst was resected and the diaphragmatic defect was closed with interrupted nonabsorbable sutures. The patient's postoperative course was uneventful. Pathological analysis showed a true liver cyst with mesothelial lining and hepatic residues. Retrospective speculation suggests a common embryologic origin for both malformations. In conclusion, laparoscopy allowed final diagnosis and simultaneous treatment of an infant with the rare combination of a liver cyst and a diaphragmatic defect. To our knowledge, this case represents the first endosurgical experience of such a simultaneous procedure.

Apical hypertrophic cardiomyopathy due to a de novo mutation Arg719Trp of the beta-myosin heavy chain gene and cardiac arrest in childhood. A case report and family study.

Hypertrophic cardiomyopathy (HCM) is a myocardial disease with variable phenotpye and genotype. To demonstrate that the mutation Arg719Trp in the cardiac beta-myosin heavy chain (beta MHC) gene is a high risk factor for sudden death and can be associated with an unusual apical non-obstructive HCM, we report the case of a 6 1/2 year old boy, who suffered cardiac arrest. The proband had a de novo mutation of the beta MHC gene (Arg719Trp) on the paternal beta MHC allele and a second maternally transmitted mutation (Met349Thr), as was shown previously (Jeschke et al. 1998 (11)). Here we report the clinical phenotype of the proband and of his relatives in detail. The proband had a marked apical and midventricular hypertrophy of the left and right ventricle without obstruction. There was an abnormal relaxation of both ventricles. Holter monitoring detected no arrhythmia. Ventricular fibrillation was inducible only by aggressive programmed stimulation. The boy died 3 1/2 years later after another cardiac arrest due to arrhythmia. Five carriers of the Met349Thr mutation in the family were asymptomatic and had no echocardiographic changes in the heart, suggesting a neutral inherited polymorphism or a recessive mutation. It is concluded that there is an association of the mutation Arg719Trp in the beta-myosin heavy chain with sudden cardiac death in a young child. Disease history in conjunction with the genetic analysis suggests that the implantation of a defibrillator converter would have been a beneficial and probably life saving measure.

Acute inferior cardiac inflow obstruction resulting from inadvertent surgical closure of a prominent Eustachian valve mistaken for an atrial septal defect.

A 5-month-old boy with a VACTERL syndrome underwent cardiac surgery for correction of a common arterial trunk and closure of an atrial septal defect. A prominent Eustachian valve was mistaken for the atrial septum and surgically closed. Thirty months later, after gradual shrinking of the foramen ovale with associated reduction of the right-to-left shunt, the boy presented with acute symptoms of a lower inflow obstruction, characterized by hepatomegaly and engorged abdominal vein pattern (Medusa's head). The boy was reoperated successfully after the condition had been recognized.

A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes.

Hypertrophic cardiomyopathy (HCM) is a genetically and clinically heterogeneous myocardial disease that is in most cases familial and transmitted in a dominant fashion. The most frequently affected gene codes for the cardiac (ventricular) beta-myosin heavy chain. We have investigated the genetic cause of an isolated case of HCM, which was marked by an extremely severe phenotype and a very early age of onset. HCM is normally not a disease of small children. The proband was a boy who had suffered cardiac arrest at the age of 6.5 years (resuscitation by cardioconversion). Upon screening of the beta-myosin heavy chain gene as a candidate, two missense mutations, one in exon 19 (Arg719Trp) and a second in exon 12 (Met349Thr), were identified. The Arg719Trp mutation was de novo, as it was not found in the parents. In contrast, the Met349Thr mutation was inherited through the maternal grandmother. Six family members were carriers of this mutation but only the proband was clinically affected. Segregation and molecular analysis allowed us to assign the Met349Thr mutation to the maternal and the Arg719Trp de novo mutation to the paternal beta-myosin allele. Thus, the patient has no normal myosin. We interpret these findings in terms of compound heterozygosity of a dominant (Arg719Trp) and a recessive (Met349Thr) mutation. Whereas a single mutated Arg719Trp allele would be sufficient to cause HCM, the concurrent Met349Thr mutation alone does not apparently induce the disease. Nevertheless, it conceivably contributes to the particularly severe phenotype.

Intravascular ultrasonography of an adolescent boy with a coronary artery aneurysm due to Kawasaki disease.

A 14-year-old boy developed coronary aneurysms during the course of Kawasaki disease. The vessel wall morphology of the coronary arteries was assessed by intravascular ultrasound imaging (IVUS). There was intimal thickening proximal to, within, and distal to a large coronary aneurysm in the left anterior descending coronary artery only 18 months after the acute onset of Kawasaki disease. Intimal thickening without calcification is a new IVUS finding within a persistent coronary aneurysm. It may indicate that the healing process, via cell proliferation is continuing, with the risk of causing a stenosis.

Innominate artery enlargement in congenital arteriovenous fistula with subsequent tracheal compression and stridor.

To demonstrate that airway obstruction may be the first manifestation of a congenital fistula, a female newborn is reported who presented with increasing stridor during her first 23 months of life. Magnetic resonance imaging and Doppler echocardiography revealed an enlarged innominate artery with turbulent flow. Angiography demonstrated an arteriovenous fistula between the right subclavian artery and right subclavian vein and an abnormal origin of the right internal thoracic artery. Bronchoscopy showed a pulsating compression of the middle section of the trachea. Closure and division of the fistula and aortotruncopexy were performed. The stridor disappeared, and there was marked relief of the tracheal obstruction, confirmed by bronchoscopy. It is concluded that, a search for enlarged vessels is necessary in cases of airway obstruction.

Mulibrey nanism.

Investigation of a 4-year-old boy with 'Russell-Silver-phenotype' led to the relatively rare diagnosis of Mulibrey nanism. Subsequently cardiac investigation confirmed a constrictive pericarditis which is characteristic of this syndrome, although not included in the acronym (muscle, liver, brain, eye). Identification of this syndrome is important for genetic counselling of the parents (25% recurrence risk, McKusick No. 253250).

Pulmonary sling: morphological findings. Pre- and postoperative course.

Pulmonary sling (PS) is a congenital condition in which the left pulmonary artery (LPA) arises from the right pulmonary artery (RPA), forming a sling around the trachea causing tracheal compression. The incidence is not so rare as initially thought. Symptoms of severe airway obstruction often begin in the newborn or young infant. Echo-colour-Doppler may reveal the PS but emphysema can mask the typical findings. Deviation of fluid-filled lungs may be detected prenatally. Chest radiographs show unusual air distribution, deviation of heart and mediastinum and altered tracheobronchial angles. Bronchography and bronchoscopy demonstrate the high incidence of associated tracheal anomalies such as cartilagenous rings and long tracheal stenosis. Anterior oesophageal indentation is not always seen in the oesophogram. Magnetic resonance imaging (MRI) and computed tomography (CT) reveal the PS, but cautious interpretation is necessary because of different levels of the anomalous LPA. PS and associated cardiovascular malformations can be clearly detected by angiography. Associated extrathoracic anomalies are common. Early diagnosis and therapy of PS is mandatory and consists of reimplantation of the LPA into the pulmonary trunk and division of the ligamentum arteriosum. The postoperative course may be cumbersome necessitating bronchological interventions. Tracheal resection may be necessary but restenosis is frequent. A one-stage repair has been proposed in such cases and was successfully done in a few reported cases. Relief of respiratory obstruction is often complete when there are no associated tracheobronchial anomalies. Late postoperative course is favourable but respiratory obstructive attacks may occur with decreasing incidence over time and tracheal growth.

MRI in pre- and postoperative assessment of tracheal stenosis due to pulmonary artery sling.

OBJECTIVE: To evaluate the potential of MRI in the assessment of tracheal stenosis due to tracheal or vascular malformations, 45 children with severe respiratory distress were examined prospectively during a period of 1 year. Five of these children had tracheal stenosis due to a sling left pulmonary artery (SLPA). MATERIALS AND METHODS: Magnetic resonance examinations of the anesthetized children were performed with a 1.5 T Siemens MR imager using electrocardiographically gated T1-weighted SE sequences in transverse and sagittal slice orientations. Slice thickness was 3 mm and each sequence was repeated after shifting the slice position by 1 mm. Monitoring during the examinations included ECG, oscillatory blood pressure, respiratory rate, and oxygen concentration. Magnetic resonance findings were compared with esophagography, selective pulmonary angiography, bronchoscopy, Doppler sonography, and surgery. All examinations were repeated after surgical therapy to assess the improvement in tracheal stenoses and the patency of the ligated and reimplanted left pulmonary arteries. RESULTS: Magnetic resonance imaging clearly revealed the course of the SLPA and its topographic relationship to the trachea as well as the coexistence of cardiovascular and tracheobronchial or esophageal malformations. The degree and length of tracheal stenoses, which were measured in the pre- and postoperative axial slices and graphically displayed, as well as the angles of the right and left main stem bronchi, could be accurately determined. CONCLUSION: Magnetic resonance imaging in combination with bronchoscopy yielded the necessary and sufficient information for diagnosis and aided the surgeon in planning operative strategy and in postoperative follow-up.