Subcutaneous fat necrosis of the newborn: hypercalcaemia with hepatic and atrial myocardial calcification.

Subcutaneous fat necrosis of the newborn (SCFN) is a very rare disorder, which can be complicated by hypercalcaemia and thrombocytopenia. The case is presented of an infant with SCFN and symptomatic hypercalcaemia, who developed calcifications in the liver, the inferior vena cava, and the atrial septum of the heart. The hypercalcaemia was treated with hyperhydration, frusemide, glucocorticoids, and a diet low in calcium and vitamin D. Clinical features, diagnosis, complications, and treatment of this rare condition are discussed.

[Good results after closure of a arterial septal defect during heart catheterisation instead of surgery]. / Gunstige resultaten van atriumseptumdefectsluiting tijdens hartkatheterisatie in plaats van operatie.

OBJECTIVE: Evaluation of the first results in the Netherlands of percutaneous and transvenous closure of an ASD II in children with an Amplatzer Septal Occluder (ASO). DESIGN: Prospective. METHOD: Data were collected from children with an ASD II prior to, during and up to 24 months after the insertion of an ASO during heart catheterisation in Leiden University Hospital, the Netherlands. RESULTS: Between 1 January 1998 and 29 February 2000, 28 patients (12 girls, 16 boys; mean age: 74 months (range: 15-198 months)) underwent heart catheterisation to close an ASD II with an ASO. In 26 patients an ASO could be placed without significant complications. The size of the device varied from 9-34 mm (median 16 mm). In one patient ASD closure was not attempted because of multiple ASDs. In another patient the procedure was stopped after air embolism into the coronary arteries had occurred during preparation of ASO implantation. In 23/26 patients with an implanted ASO, no residual shunt was present after 24 hours. One child, in whom the defect was found to be closed after 24 hours and after three weeks, returned abroad and was lost to follow-up. After one year all defects (n = 22) were completely closed. CONCLUSION: Percutaneous transvenous closure of an ASD II with an ASO was possible, was not associated with any significant complications and had a high success rate, even in relatively young children with large defects.

Double outlet right ventricle assessed with magnetic resonance imaging.

In this article the value of magnetic resonance (MR) imaging for the evaluation of double outlet right ventricle (DORV) is reviewed from the literature and illustrated with several cases. MR imaging can be used for the determination of cardiac anatomy at initial diagnosis and may provide functional information during the follow-up of patients after surgical correction.

A new diagnostic approach to vascular rings and pulmonary slings: the role of MRI.

UNLABELLED: The conventional diagnostic work-up of a patient suspected of having a vascular cause for stridor, or dysphagia, includes esophagography and bronchoscopy to delineate the abnormal structure without imaging the structure itself. Cine-angiography is regarded as the golden standard, but is not routinely performed. Magnetic resonance imaging (MRI) is non-invasive and has the important advantage over cine-angiography of depicting all structures in the field of view. Color Doppler echocardiography depicts the great vessels, but not the esophagus and trachea. In 14 patients with obstructive symptoms and in four patients without obstructive symptoms MRI successfully imaged the abnormal structure, as was the case in two symptomatic patients using computer tomography. In this series, the findings were confirmed at surgery or by cine-angiography. CONCLUSION: we suggest that in patients suspected of having a vascular cause for stridor or dysphagia, MRI should be performed. If there is need for a screening procedure, color Doppler echocardiography should be used and if that is equivocal or non-conclusive, esophagography and bronchoscopy should be used. If MRI is difficult to interpret, it should be augmented by magnetic resonance angiography before considering cine-angiography.

The value of MRI in diagnosing vascular abnormalities causing stridor.

UNLABELLED: In a 2 year period seven patients who presented with stridor, without respiratory compromise, and three patients without obstructive symptoms were prospectively selected, and underwent MRI. In eight patients with a vascular ring and a pulmonary sling, MRI delineated the vascular abnormality and normal great vessels were found in two patients. CONCLUSION: MRI successfully delineates the great vessels and demonstrates the presence of a vascular ring and pulmonary sling.

Usefulness of MRI for the pre-operative evaluation of the pulmonary arteries in Tetralogy of Fallot.

Adequate pre-operative evaluation of patients with Tetralogy of Fallot (TF) includes cine-angiography to delineate the pulmonary vasculature and the coronary artery anatomy and to demonstrate the presence of multiple ventricular septal defects (VSDs). All other information is obtained from color-Doppler-echocardiography. Magnetic resonance imaging (MRI), using the spin-echo sequence and cine-angiography was employed on 18 patients with TF, four of whom had aorto-pulmonary shunts. Mean age at MRI was 12.9 m (SD 2.3 m) and 14.3 m (SD 2.8 m) at cine-angiography. To compare MRI and cine-angiography we measured the ascending aorta, the main, the left and right pulmonary arteries and each structure at three levels. Diagnostic agreement between the two imaging methods was found if, for each modality, one of the three measurements in one structure differed by more than 40% from the other two measured in case of a local stenosis, and the diameter of the main pulmonary artery was less than 60% of the aorta to diagnose hypoplasia of the main pulmonary artery. There was close agreement between cine-angiography and MRI. With regard to the intracardiac anatomy, MRI was superior to color-Doppler-echocardiography in the depiction of aortic override and of right ventricular hypertrophy. In three cases local stenoses in the pulmonary arteries were detected by MRI and cine-angiography. Hypoplasia of the main pulmonary artery was detected by MRI in six patients and by cine-angiography in five patients. Cine-angiography missed one case of hypoplasia. In the remaining 11 patients normal findings were found by MRI and cine-angiography. For the demonstration of shunts, gradient-recalled-echo MRI is expected to give better results than the spin-echo sequence which depicted two out of four shunts in this series. Cine-angiography can be substituted by MRI in delineating the pulmonary arteries. New developments in MRI indicate the feasibility of delineating the coronary arteries.

Sedation for children undergoing magnetic resonance imaging: efficacy and safety of rectal thiopental.

UNLABELLED: The need to reappraise sedation policy is dictated by newer noninvasive imaging modalities. In this study we evaluate the safety and efficacy of rectally-administered thiopental in children undergoing MRI. Eighty-three consecutive patients with congenital heart disease (mean age 2.9 years, SD 2.5) undergoing MRI evaluation of the heart were given thiopental (25-50 mg/kg, 700 mg max) per rectum. In order to prevent leakage, a female urinary catheter was used. In 79 patients (95.2%) successful sedation was achieved and adequate MR imaging could be obtained. In 4 patients (4.8%) the sedation was inadequate. Respiratory depression was not encountered in any of the patients. The presence of cyanotic congenital heart disease in 26 patients had no influence on the safety and efficacy of thiopental. All successfully sedated children were asleep within 30 min and adequate sedation was maintained for at least 45 min. All patients could be aroused within 90 min, and sent home thereafter. Minor side-effects occurred in two patients. CONCLUSION: Rectally-administered thiopental is a safe and effective sedative drug with a duration of action tailored to performing MRI.

MRI appearance of a double inlet and double outlet right ventricle with supero-inferior ventricular relationship.

This patient was diagnosed with a double inlet and double outlet RV with supero-inferior ventricular relationship, ventricular inversion was diagnosed on the basis of left-handed topology of the RV, and the straddling of the right-sided mitral valve over an anterior VSD, with its tension apparatus extending into the outflow tract of the RV. MRI was found to be superior to color Doppler echocardiography and contrast ventriculography in the segmental analysis leading to a full understanding of this complex case.

Evolving usage of pediatric cardiac catheterization.

The use of catheterization for the diagnosis of congenital heart disease has decreased dramatically in the last decade. The development of two-dimensional Doppler echocardiography has changed the practice of pediatric cardiology, combining exquisite imaging with Doppler-derived hemodynamic information. Angiographic cardiac imaging is required for those areas inaccessible to ultrasonography, such as the distal great arteries and abnormal venous connections, and also in complex postoperative conditions. To further decrease the need for angiography, transesophageal echocardiography, magnetic resonance imaging, radionuclide angiography, and spiral computed tomography have been employed as noninvasive substitutes in those areas. Of these modalities, magnetic resonance imaging appears to be the most promising. Currently, angiography is used almost exclusively for interventional purposes. The increased imaging versatility afforded by these new modalities has important financial consequences, and requires a responsible economic approach. This article compares the role and requirements of invasive cardiac imaging in the catheterization laboratory with those of these newly developed techniques.

Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency.

A female patient with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency developed normally until 13 months of age after which she showed a gradual developmental delay, followed by progressive dementia, and a decrease in head circumference growth culminating in the diagnosis of Rett syndrome at 3.5 years.

MRI of the pulmonary artery after arterial switch operation for transposition of the great arteries.

Twenty-six children who underwent an arterial switch operation for transposition of the great arteries were examined with MRI and Doppler ultrasound (US). The aim was to determine the capability of MRI for detecting a possible stenosis of the pulmonary arteries. In 10 children angiocardiography (ACG) was done after the MRI examination. Using ACG as the gold standard, MRI was sensitive in the detection of pulmonary artery stenosis. MRI was more precise in the localization of a stenosis than was Doppler US. Right ventricular hypertrophy was a sensitive indicator of pulmonary artery stenosis. These results suggest that MRI could serve as a screening examination for pulmonary artery stenosis after an arterial switch operation.

[A child with cutaneous polyarteritis]. / Een kind met cutane polyarteriitis.

A 14 year-old boy became seriously ill, following an upper respiratory tract infection, with high fever, arthralgia and arthritis, and a complete paralysis of the left median nerve. There was inadequate response to NSAIDS, but improvement with prednisone. During reduction of prednisone the boy developed painful erythematous swelling of the feet, subcutaneous nodules and afterwards livedo reticularis. Skinbiopsy confirmed the diagnosis of cutaneous polyarteritis. Different aspects of the disease are discussed.

Systemic carnitine deficiency: benefit of oral carnitine supplements vs. persisting biochemical abnormalities.

A patient is described who was admitted with a condition similar to the Reye syndrome at the age of 9 months. Hypoglycemia, hyperammonemia, hepatomegaly, and lethargy were present. The plasma concentrations of free and acylcarnitine were extremely low and the urine contained excessive amounts of dicarboxylic acids. Extensive biochemical and histological investigations of biopsied liver and muscle led to the diagnosis of systemic carnitine deficiency. The patient was put on oral carnitine treatment, upon which he remained clinically well. A prolonged fasting test during this treatment gave abnormal results: there was no ketonemia, but an increase of omega-oxidation of fatty acids. In spite of the treatment the liver and muscle carnitine content remained below normal.