Complete follow-up echocardiograms are needed to detect stenosis of normally connecting pulmonary veins.

Reimbursement for limited echocardiograms focusing on known pathology rather than complete studies has recently received widespread attention. Few data are available to determine if these limited examinations provide enough information to adequately evaluate many forms of congenital heart disease. Stenosis of normally connecting pulmonary veins is a congenital or acquired cardiac anomaly that is difficult to diagnose clinically and may be detectable only by echocardiography. To evaluate the yield of complete versus limited echocardiograms for detecting the presence and development of stenosis in pulmonary veins with anatomically normal connections, the cardiology database was searched for all patients with this diagnosis presenting between June 1990 and January 2000. Charts were reviewed for demographic data, associated defects, surgeries, and outcomes. Angiograms and echocardiograms were reviewed for location and severity of pulmonary vein stenosis. A pulsed-wave Doppler signal of > 1.6 mm/sec with loss of phasic flow was used to define stenosis. Eighteen patients were identified and ranged in age at first evaluation from 1 day to 17 years (median 15 days). All 18 patients had associated cardiac anomalies, and 4 (22%) of 18 had Trisomy 21. Pulmonary vein stenosis was detected on the initial evaluation in 5 patients, detected 8 +/- 5 months after the initial echocardiogram in 11 patients, and missed by echocardiography in 2 patients who were diagnosed by cardiac catheterization. The initial echocardiograms were complete, with pulsed-Doppler sampling of all four pulmonary veins in 17 of 18 patients. Of the 12 patients who had echocardiographic evidence of late stenosis, 10 had 17 limited interim studies prior to eventually having a complete diagnostic follow-up study. Of the two patients in whom the diagnosis was missed by echocardiography, one initial study was technically inadequate (17-year-old) and one had only limited interim studies after the initial echocardiogram. Of the 9 patients in whom repair of the pulmonary vein stenosis was attempted, 3 had no residual obstruction and 6 had progressive stenosis (three deaths). Of the remaining nine patients who had no intervention for their pulmonary venous stenosis, four have died from progressive pulmonary hypertension. Stenosis of normally connecting pulmonary veins is an uncommon lesion that has a significant impact on clinical outcome. The stenoses might be undetectable on limited echocardiograms that focus on evaluating only specified pathology. Complete follow-up examinations might be warranted to diagnose this lesion. This may be an important consideration when formulating reimbursement policies.

Yersinia enterocolitis mimicking Crohn's disease in a toddler.

A 31/2-year-old girl presented with persistent abdominal pain, fever, vomiting, and diarrhea accompanied by rash, oral ulceration, anemia, and an elevated sedimentation rate. Initial evaluation revealed no pathogens and was extended to include abdominal ultrasound and computed tomography showing marked ileocecal edema and mesenteric adenopathy. Colonoscopy revealed focal ulceration from rectum to cecum with histology of severe active colitis with mild chronic changes. Enteroclysis demonstrated a nodular, edematous terminal ileum. Because of the patient's clinical deterioration despite antibiotics, these features were construed consistent with Crohn's disease, and glucocorticoid therapy was begun. By the ninth hospital day, admission cultures grew Yersinia enterocolitica, and trimethoprim/sulfamethoxazole was begun followed by prompt clinical improvement. The delay in diagnosis afforded an unusually comprehensive clinical description of the presentation and diagnosis of Yersinia enterocolitis in childhood.

Hb Hammersmith [beta 42(CD1) Phe-->Ser]: occurrence as a de novo mutation in black monozygotic twins with multiple congenital anomalies.

PURPOSE: To present the occurrence of Hb Hammersmith as a de novo mutation in African-American twins with multiple congenital anomalies. METHODS: Standard hematologic methods were used. The presence of an unstable Hb variant was confirmed by brilliant cresyl blue staining and an isopropanol stability test. Hb Hammersmith was confirmed by the sequencing of polymerase chain reaction-amplified beta-globin gene. RESULTS: The presence of Hb Hammersmith was confirmed in female monozygotic twins of African-American origin with congenital Heinz body hemolytic anemia and multiple congenital anomalies. The variant occurred as a de novo mutation in the twins. CONCLUSION: This report describes the occurrence of Hb Hammersmith [B42(CD1)Phe-->Ser] in African-American twins. As with the other reported cases, both twins were female. In addition to Heinz body hemolytic anemia, a low arterial O2 saturation in the proposita was shown by pulse oximetry. Multiple congenital anomalies involving various systems were also found in both twins.

Internal carotid artery occlusion in a child with sickle cell disease: case report and immunohistochemical study.

PURPOSE: The purpose of this report is to describe the clinical and pathologic features of a patient with acute thrombosis of both internal carotid arteries leading to death. METHODS: This is a case report of special interest because of extensive brain vessel pathologic examination. RESULTS: The analysis of this case showed that the brain had suffered massive infarction and cerebral edema. The internal carotid arteries (ICAs) were occluded by acute thrombus. The arterial wall of the left ICA, studied at its distal segment, showed a small amount of intimal hyperplasia which did not cause encroachment on the lumen. Immunohistochemical stains indicated that this lesion was formed by proliferative vascular smooth muscle rather than incremental thrombus formation. CONCLUSION: Acute thrombus formation can occur in the large cerebral arteries of children with sickle cell disease in the presence of only minimal intimal hyperplasia. The intimal hyperplasia which forms the sickle related vasculopathy seen on angiography or detected by Transcranial Doppler may be more related to stimulation of smooth muscle cells than dysregulation of thromboregulation at the endothelial surface. Implications for preventive treatment are discussed.