Subclavian artery pseudoaneurysm in type IV Ehlers-Danlos syndrome.

We report case of a subclavian artery pseudoaneurysm in a patient with type IV Ehlers-Danlos Syndrome. A 16-year-old boy underwent successful repair of a subclavian artery pseudoaneurysm that occurred after a cervical hyperextension injury. Subsequent workup included skin biopsy and fibroblast culture, which were consistent with a diagnosis of type IV Ehlers-Danlos Syndrome. This condition is a dominantly inherited connective tissue disorder, which in this patient was found to be caused by a spontaneous point mutation in the COL3A1 gene that encodes the chains of type III procollagen. The clinical, genetic, and molecular characteristics of type IV Ehlers-Danlos Syndrome are briefly reviewed.

Recombinant tissue plasminogen activator restores perfusion in meningococcal purpura fulminans.

OBJECTIVE: To investigate whether an infusion of recombinant tissue plasminogen activator would dissolve microvascular thromboses and improve organ perfusion in a patient with fulminant meningococcemia. DESIGN: Descriptive case report. SETTING: Fifteen-bed pediatric intensive care unit (ICU) in a university hospital. PATIENT: A 4-month-old male with fulminant meningococcemia, refractory shock, and multiple organ failure. INTERVENTIONS: In addition to standard aggressive ICU care, the patient received a recombinant tissue plasminogen activator infusion at a total dose of 1.25 mg/kg over 4 hrs. MEASUREMENTS AND MAIN RESULTS: Heart rate, arterial blood pressure, urine output, and base deficit (as a reflection of severity of metabolic acidosis) were recorded immediately before the recombinant tissue plasminogen activator infusion and 4 hrs later, after completion of the recombinant tissue plasminogen activator infusion. The amount of exogenous vasopressor and inotropic support required to maintain the patient's hemodynamic status before and after recombinant tissue plasminogen activator infusion were also compared. Subjective observations regarding the patient's peripheral perfusion status were also noted. The patient showed a dramatic improvement in hemodynamics, urine output, and metabolic acidosis, as well as a perceived increase in skin perfusion after recombinant tissue plasminogen activator infusion. CONCLUSIONS: In this patient, recombinant tissue plasminogen activator infusion resulted in improved organ perfusion and cardiac performance. Selective use of recombinant tissue plasminogen activator in the treatment of fulminant meningococcemia merits further investigation.

Four sibs with arterial tortuosity: description and review of the literature.

We described four offspring of a consanguineous couple with arterial tortuosity "syndrome" (ATS). The affected children had extensive arterial involvement although the clinical presentations were quite variable. Clinical manifestations included cutis laxa or soft/thin skin, joint laxity or contractures, and arachnodactyly. Aortic tortuosity and pulmonary artery aneurysms with or without peripheral stenoses were demonstrated in all four sibs. All three males had inguinal hernias. Inconsistent facial anomalies were downslanting palpebral tissues, beaked nose, micrognathia, and high-arched palate. Results of collagen type I and type III biosynthesis studies were normal on skin fibroblasts. Histologic findings on autopsy of one affected child showed arterial changes with disruption of elastic fibers of the media and fragmentation of the internal elastic membrane as well as mucosal and transmural necrosis of the stomach, small bowel, colon, and extensive necrosis of the liver. Coronary artery involvement was also seen in this child as well as biventricular hypertrophy. We conclude that ATS is an autosomal recessive connective tissue condition associated with diffuse arterial changes and involvement of the skin, joints, and other organs.

Complications of care in a pediatric intensive care unit: a prospective study.

OBJECTIVES: (a) To examine the frequency, type, and severity of complications occurring in a pediatric intensive care unit; (b) to identify populations at risk; and (c) to study the impact of complications on morbidity and mortality. DESIGN: Prospective survey. SETTING: Pediatric intensive care unit (PICU) of a university-affiliated hospital. PATIENTS: 1035 consecutive admissions over an 18-month period. RESULTS: 115 complications occurred during 83 (8.0%) admissions, for 2.7 complications per 100 PICU-days; 48 (42%) complications were major, 45 (39%) moderate, and 22 (19%) minor. Sixty complications (52%) were ventilator-related, 14 were drug-related, 13 procedure-related, 24 infectious, and 22 involved invasive devices (18 vascular catheters). Human error was involved in 41 (36%) cases, 21 of which were major (18%). Treatments included reintubation < 24 h (28), intravenous antimicrobials (24), and invasive bedside procedures (14). Cardiopulmonary resuscitation was required in 6 patients. Thirteen patients with complications died (15.7%); 2 deaths were directly due to complications. Patients with complications were younger, had longer lengths of stay, and had a higher mortality. Length of stay was a positive risk factor for complication risk (odds ratio = 1.09, 95% confidence interval: 1.05 to 1.13; p = 0.0001); other patient characteristics had no predictive effect. Kaplan-Meier estimates showed that the most severe complications occurred early in the PICU stay. The best indicators of patient mortality were number of complications (odds ratio = 2.96, 95% confidence interval 1.72 to 5.08; p = 0.0001), and mortality risk derived from the Pediatric Risk of Mortality Score (odds ratio = 1.08, 95% confidence interval 1.06 to 1.10; p = 0.0001). Mortality was correlated with increasing severity of complications. CONCLUSION: Complications have a significant impact on patient care. Patients may be at increased risk earlier in their PICU course, when the number of interventions may be greatest. Complications may increase patient mortality and predict patient death better than other patient variables.

Cardiac tamponade in an adolescent female: an unusual manifestation of systemic lupus erythematosus.

Systemic lupus erythematosus (SLE) affects approximately 0.6 children per 100,000. The disease is extremely rare in children under 5 years of age and is diagnosed predominantly in adolescent females. Children tend to present with more severe multisystem involvement than adults. Pericarditis occurs in approximately 25% of patients with SLE in all age groups. Progression to tamponade is extremely uncommon in the pediatric population. In the current report, an adolescent girl is diagnosed with SLE after presenting with signs and symptoms consistent with cardiac tamponade. A review of other pediatric patients with a similar presentation is also included.

Correlation between clinical diagnoses and autopsy findings in critically ill children.

STUDY OBJECTIVE: To examine the correlation between clinical diagnoses and autopsy findings in children who die in the pediatric intensive care unit (PICU). DESIGN: Retrospective chart review. SETTING: PICU of a university-affiliated hospital. PATIENTS: A consecutive sample of patients who died in the PICU and had autopsies performed. MEASUREMENTS AND MAIN RESULTS: Of 193 patients who died during the 7 1/2-year study period, 50 (26%) had autopsies performed. The mean age was 34.7 months (range 15 hours to 17 years), and the mean length of stay in the PICU was 12.2 days (range 2 hours to 60 days). Major admitting diagnoses included postoperative cardiac surgery (19), nonoperative cardiac disease (7), hematologic/malignant disorder (5), and acquired immunodeficiency syndrome (5). There were 5 cases (10%) where autopsy revealed a major finding that, if known prior to death, would have altered clinical management and might have resulted in cure or prolonged survival. In another 9 patients (18%) the autopsy revealed major findings that, if known prior to death, would not have altered management. Eight of these findings related to the cause of death and 2 of them involved the basic disease. There was no correlation between new findings and either patient age or length of stay in the PICU. CONCLUSIONS: Despite modern diagnostic techniques, the autopsy continues to reveal valuable and unsuspected information.

Life-threatening organophosphate-induced delayed polyneuropathy in a child after accidental chlorpyrifos ingestion.

Life-threatening organophosphate-induced delayed polyneuropathy with transient bilateral vocal cord paralysis occurred in a 3-year-old child. Recovery was slow after prolonged ventilatory support. Patients who recover from serious organophosphate intoxications should be closely monitored for the development of organophosphate-induced delayed polyneuropathy.

Marfan syndrome in adolescents and young adults: psychosocial functioning and knowledge.

Twenty-two subjects with Marfan syndrome (age range 11-24 years, mean 15.7 years) were studied to evaluate the impact of Marfan syndrome on their lives, level of psychosocial adaptation, concerns about their disorder, compliance with medical regimens, and knowledge of Marfan syndrome. Subjects were interviewed and then completed the Offer Self-Image Questionnaire and two questionnaires designed for the study. Parents also were interviewed. Subjects demonstrated normal psychosocial adaptation on the Offer Self-Image Questionnaire. Nevertheless, the subjects perceived that their lives would be significantly better without Marfan syndrome, especially in the areas of physical activities and self-image. They expressed concerns about their illness most often to their parents, less frequently to their doctors. Their compliance with medical regimens were suboptimal and similar to the published description of compliance among teenagers with other chronic illnesses. Their knowledge base was weakest in the areas pertaining to future childbearing. Thus, although these subjects showed normal psychosocial adaptation, doctors caring for them may foster better coping with Marfan syndrome by discussing self-image issues and Marfan syndrome-related concerns, and by encouraging compliance and imparting knowledge.

EKG screening program for school athletes.

Hypertrophic cardiomyopathy is the most common cardiovascular cause of sudden death in adolescent athletes. The electrocardiogram is abnormal in more than 90% of these individuals. An EKG screening program was developed in order to ascertain the role of the electrocardiogram in identifying athletes at risk for sudden death. A training program was created to instruct school nurses on how to perform electrocardiograms. A questionnaire/consent form was sent to the parents of the athletes. This form asked basic questions concerning the child's past medical history and family history. The electrocardiograms were interpreted by staff pediatric cardiologists. A total of 1,424 students, ages 13 to 18, had 12-lead electrocardiograms performed. In 88.8% the electrocardiogram was normal and the health screening questionnaire revealed no abnormalities in family or personal medical history. In 6.5% of the students, the family history or screening blood pressure recording justified further evaluation. In 72 students abnormalities on the electrocardiogram were noted (5.1%). There were 87 abnormalities noted in the 72 students. Conduction disturbances and arrhythmias were the most common abnormalities noted. In 12 students evidence of ventricular hypertrophy was found. Echocardiograms and stress tests were normal in these individuals. No student was found to have hypertrophic myopathy and no student was restricted from participating in competitive athletic activities. Despite the apparent negative results of this program there were benefits of the screening project. The program resulted in a closer working relationship between school health officials and a major health care facility.(ABSTRACT TRUNCATED AT 250 WORDS)

Noninvasive diagnosis of congenital left coronary artery to right ventricle fistula by nuclear magnetic resonance imaging.

In two children with left coronary artery to right ventricle fistula, nuclear magnetic resonance imaging provided high-quality images of the course of the dilated coronary artery and its termination in the right ventricular apex. The advantages of this noninvasive multiplanar imaging technique for visualization of coronary fistulae and dilated coronary arteries are described. This report represents the first description of coronary artery fistula by nuclear magnetic resonance imaging.

Noninvasive pulse oximetry in children with cyanotic congenital heart disease.

Arterial oxygen saturation, determined noninvasively by pulse oximetry in 32 pediatric patients with cyanotic congenital heart disease (CHD), was compared with oxygen saturation measured by a cooximeter in simultaneously obtained arterial blood samples. The patients were studied in the cardiac catheterization laboratory, operating room, and ICU. Excellent correlation by linear regression (n = 108, r = .95) was observed between the two methods at oxygen saturations ranging from 35% to 95%. These observations show that in infants and children with cyanotic CHD, arterial oxygen saturations can be determined accurately and reliably by pulse oximetry at rest and during changing circulatory states.

Congenital intracardiac rhabdomyoma: prenatal detection by echocardiography, perinatal management, and surgical treatment.

A case of a newborn infant with an intracardiac tumor, detected in utero by fetal echocardiography at 30 weeks gestation, is presented. The prenatal evaluation by serial fetal echocardiograms and nonstress tests is described. In the perinatal period, ventricular tachycardia occurred and was successfully managed with antiarrhythmic medications. At 20 months of age, a right ventricular rhabdomyoma was removed at open heart surgery. The patient represents the earliest in utero detection of a fetal intracardiac tumor with successful postnatal outcome.

Cardiac MR imaging in Pompe disease.

The magnetic resonance (MR) imaging findings in a 5-month-old infant with glycogen storage disease of the heart revealed hypertrophy of the right and left ventricles and the interventricular septum with an irregular inhomogeneous appearance of the myocardium. The descriptive features of the MR study are correlated with cardiac angiography and echocardiography in Pompe disease.

Cardiac magnetic resonance imaging in children with congenital heart disease.

Electrocardiogram-gated magnetic resonance imaging (MRI) was used to evaluate 36 children, ages 2 to 17 years, with congenital heart disease. With the use of multiple imaging planes, including transverse, sagittal, coronal, and 60-degree left anterior oblique views, high contrast images with excellent spatial resolution were produced. In 34 of the 36 patients the anatomic detail provided by MRI was sufficient to make the cardiac diagnosis. Electrocardiogram-gated MRI is an important new imaging technique for use in children with cardiovascular disease.

Nuclear magnetic resonance imaging in evaluation and follow-up of children treated for coarctation of the aorta.

Electrocardiographic-gated nuclear magnetic resonance imaging was used to evaluate 10 patients, aged 2.5 to 18 years, with coarctation of the aorta. Six patients had balloon dilation angioplasty, one had surgical repair and three are awaiting treatment. Imaging studies were performed before and after therapy in three patients. In all pretreatment studies, the sagittal and 60 degrees left anterior oblique imaging planes adequately revealed the anatomy of the coarctation. Post-treatment imaging studies demonstrated effective relief of the coarctation in all cases. In three of the six patients who had balloon angioplasty, there was a variable degree of dilation of the aorta at the site of the previous coarctation. Nuclear magnetic resonance imaging is an effective noninvasive imaging method for visualizing coarctation of the aorta and for follow-up after treatment.