Accuracy of ultrasonography in assessing spleen and liver size in patients with Gaucher disease: comparison to computed tomographic measurements.

A comparison was made between volume measurements of spleen and liver by ultrasonography and by computed tomography, the two most common modes of assessment of organ size in patients with Gaucher disease, who require frequent follow-up measurements. The two measurements showed a high degree of correlation within a broad range for both spleen and liver volumes. An algorithm for conversion of one measurement to the other was derived for both spleen and liver.

Exostosis of a rib causing laceration of the diaphragm: diagnosis and management.

A 17-year-old boy presented with spontaneous hemothorax due to a puncture wound of the diaphragm by an inward facing exostosis of the rib. Diagnosis was made by computed tomographic scan, and the patient underwent a video-assisted thoracoscopic procedure to remove the exostosis. This is only the eighth reported case of an exostosis causing hemothorax.

[Pulmonary thrombo-endarterectomy].

Chronic pulmonary thromboembolism is an underdiagnosed condition with major morbidity and mortality. Over the past year and a half, we diagnosed 6 new cases of which 3 underwent successful, pulmonary thrombo-endarterectomy (2 in San Diego, 1 in Jerusalem). All recovered fully and returned to normal, active life. We conclude that pulmonary thrombo-endarterectomy is a viable option for patients with chronic pulmonary thromboembolism.

Chest wall deformity following maximal tissue expansion for breast reconstruction.

Forty-three women, in a series of 150, participated in a prospective study that examined their chest walls for deformities 3 months after maximal tissue expansion for single-breast reconstruction. Computed tomography imaging was used for this purpose. Twenty-one patients underwent immediate breast reconstruction and the other 22 patients underwent delayed reconstruction. Fifty-three percent had some chest wall abnormality. In the delayed group, chest wall deformities were more statistically significant (p < 0.001). Our findings suggest that chest wall deformity is a common occurrence after maximal tissue expansion for breast reconstruction.

Pulmonary function abnormalities in type I Gaucher disease.

The purpose of this study was to determine the prevalence of pulmonary function and radiographic abnormalities among patients with type I Gaucher's disease, and to analyse the relationship between the pulmonary involvement and genotype and clinical severity score. All patients attending the Gaucher clinic at the Shaare Zedek Medical Center, Jerusalem, Israel, during the years 1992-1993 were prospectively evaluated. Each patient had pulmonary function tests, chest radiography, clinical assessment in terms of degree of organ involvement, and genotype analysis. Of the 95 patients included in the study (mean +/- SD age 29 +/- 15 yrs), 68% had some pulmonary function abnormalities, most commonly a reduced FRC and transfer coefficient for carbon monoxide (Kco), found in 45% and in 42% of the patients respectively. Total lung capacity (TLC) was reduced in 22% of the patients and forced expiratory flows in approximately one third of the patients. Signs of airtrapping (elevated residual volume (RV) or RV/TLC) were seen in 18% of the patients. Males had a higher incidence of reduced expiratory flow than females, (forced expiratory volume in one second (FEV1) was reduced in 36% of males vs 5% of females). Chest radiographic abnormalities were found in 17% of the patients, although only 4% had severe changes. Patients with abnormal pulmonary function had a significantly higher severity score index than those with normal pulmonary function tests. There was no association between abnormal pulmonary function and genotype or age. In conclusion, abnormal pulmonary function is common among type I Gaucher patients. Pulmonary function tests show airways obstruction, with reduced expiratory flows, reduction in lung volumes and alveolar-capillary diffusion abnormality. The rate of progression and the clinical significance need to be determined.

Replacement therapy with imiglucerase for type 1 Gaucher's disease.

Gaucher's disease, the most common sphingolipidosis, is caused by deficiency of the lysosomal enzyme glucocerebrosidase. Therapy with alglucerase (the placental enzyme) is safe and effective at various dosing regimens. We report the use of low-dose imiglucerase (the recombinant enzyme) at two dosing schedules: 15 u/kg once fortnightly or 2.5 u/kg thrice weekly. Mean reductions in spleen and liver volumes achieved (in all ten patients) by imiglucerase at 12 months were 36.4% and 14.5%, respectively; mean increase in haemoglobin and platelet counts were 13.4% and 25.7%. There were no serious side-effects. No significant differences were observed between the two schedules. Low-dose low-frequency imiglucerase may be an alternative cost-effective approach with satisfactory clinical response and uncompromised quality of life.

Epidemiology, etiology, and clinical features of septic arthritis in children younger than 24 months.

OBJECTIVE: To examine the incidence, etiology, and clinical features of septic arthritis in patients younger than 24 months. DESIGN: Retrospective, 1988 through 1993 period, chart review-based survey. PATIENTS: All children with bacteriologically proved septic arthritis that was diagnosed at a medical center serving southern Israel (population 320,000). Septic arthritis was defined by clinical evidence of joint inflammation and a positive synovial fluid or blood culture, antigen detection test, or a standard tube agglutination titer of 160 or greater for Brucella species. INTERVENTIONS: None. RESULTS: During the 6-year period, 40 children had septic arthritis diagnosed. Twenty-six (65%) were male. The annual incidence of septic arthritis was 37.1 per 100,000. The two most common organisms isolated were Kingella kingae in 19 (48%) and Haemophilus influenzae type b in eight (20%). The clinical presentation was frequently mild: a body temperature of less than 38.3 degrees C was recorded in 14 (35%) of 40 children, leukocyte count of less than 15 x 10(9)/L in 13 (34%) of 38, and erythrocyte sedimentation rate of less than 30 mm per hour in four (11%) of 35. In eight (36%) of 22 patients, less than 50 x 10(9)/L leukocytes were counted in the synovial fluid. CONCLUSIONS: The diagnosis of septic arthritis in young children requires a high index of suspicion, and the disease cannot be excluded on the basis of lack of fever or normal results of laboratory tests. Kingella kingae appears to be the most common cause of septic arthritis in patients younger than 24 months, although confirmatory studies from other geographic areas are still needed.

Dissecting aortic aneurysm in systemic lupus erythematosus.

Many cardiovascular manifestations have been described in systemic lupus erythematosus (SLE). Aortic involvement, however, is very rare. We describe a 30-year-old woman with SLE who presented with extensive aortic dissection, and review the few reported cases. We discuss possible pathogenic mechanisms for aortic involvement in lupus and the appropriate diagnostic work-up.

Abdominal wall hernias. The value of computed tomography diagnosis in the obese patient.

The abdominal wall is a common and often overlooked source of pain. Three obese patients with pain that proved to come from an abdominal wall hernia are described. The hernias were not found on physical examination, and extensive workup of the digestive tract did not disclose the diagnosis. Computed tomography directed at the abdominal wall demonstrated the hernias. We review the literature on the use of computed tomography in the diagnosis of abdominal wall lesions.

Bacteremic necrotizing pneumococcal pneumonia in children.

Necrotizing pneumonia, massive necrosis of lung tissue, is a serious, often fatal, complication of lobar pneumonia. Four children 1.3 to 7.5 yr of age were hospitalized with bacteremic pneumococcal pneumonia. All of them were acutely ill on presentation with arterial desaturation, and they developed anemia and thrombocytosis. Two patients had pleural effusion requiring drainage. A chest CT scan revealed segmental or lobar pulmonary liquification, which led to the diagnosis of necrotizing pneumonia. This finding could be demonstrated early in the course of the disease. Subsequently, all of the patients developed cavitating lesions. With adequate antipneumococcal therapy and/or chest tube drainage, all of the patients recovered completely; however, clinical improvement was prolonged: fever lasted 9 to 20 days, and length of hospitalization was 12 to 26 days. Contrary to that in adults, complete recovery is anticipated in children with bacteremic necrotizing pneumococcal pneumonia, and no invasive investigations are required.

Lysinuric protein intolerance with chronic interstitial lung disease and pulmonary cholesterol granulomas at onset.

Hyperammonemia and encephalopathy developed in an 11-year-old girl with chronic interstitial lung disease and cholesterol casts in her lung biopsy specimen. She had decreased plasma levels of ornithine, lysine, and arginine and excessive urinary excretion of lysine and arginine, consistent with the diagnosis of lysinuric protein intolerance. Analysis of plasma and urinary amino acids should be considered in the diagnostic evaluation of patients with interstitial lung disease of uncertain origin.

Weissenbacher-Zweymüller syndrome: a distinct autosomal recessive skeletal dysplasia.

The Weissenbacher-Zweymüller syndrome (WZS) is defined as congenital neonatal rhizomelic dwarfism with metaphyseal widening of the long bones and vertebral coronal clefts. Catch-up growth after 2-3 years is one of the striking manifestations. It is generally thought that WZS is a neonatal expression of the Stickler syndrome, even though in the latter, myopia, retinal detachment and a progressive metaphyseal dysplasia are characteristics that are not found in WZS. A critical analysis of all published patients with WZS in addition to 5 patients in 3 new families, shows that the WZS is a distinct syndrome of delayed skeletal maturation, different from the Stickler syndrome, and inherited as an autosomal recessive trait. The recognition of its unique characteristics has important implications in genetic counseling.

Congenital nasal stenosis in newborn infants.

Five newborn infants with evidence of nasal obstruction were shown to have congenital nasal stenosis. Conservative treatment, including temporary nasopharyngeal intubation in three, eventually resulted in symptomatic relief, so that surgery could be avoided.

Mucolipidosis III and Bardet-Biedl syndrome in the same family: diagnostic pitfalls.

Two brothers, offspring of an Arab inbred family suffered from both mucolipidosis III (ML-III) and Bardet-Biedl syndrome (BBS). Other members of this family were affected either with ML-III, or with BBS. It seems that this unique combination is probably coincidental.

The ambivalent effects of early and late administration of mannitol in cold-induced brain oedema.

This study was undertaken in order to determine whether early administration of mannitol is different from late administration in its effect on brain oedema. Cold-induced brain oedema, which was confirmed by high resolution CT scan, was produced in 2 groups of cats. In group one mannitol was given early (90 minutes after injury); in group two 3-4 hours after the injury (late). Repeated CT scans following mannitol administration showed that the early group exhibited significantly greater dehydration (p less than 0.0001) while the late group showed significant hydration, in the lesioned hemisphere. The contralateral control hemisphere responded to mannitol with similar dehydration effect in both groups.

[Calcific retropharyngeal tendinitis].

Calcific retropharyngeal tendinitis is a rare clinical entity of which we found only 31 published cases. We present a 45-year-old woman who suffered from severe pain and difficulty in swallowing. The course was benign and recovery was spontaneous. The main problem is the differential diagnosis between benign and malignant diseases that occur in the retropharyngeal area and in the intraspinal space.

Kikuchi's necrotizing lymphadenitis: a cause of fever of unknown origin and splenomegaly.

Kikuchi's disease is characterized by lymphadenopathy in young patients and may be mistaken for malignant disease both clinically and histologically. We report the case of a 26-year-old man with persistent fever for 3 weeks and splenomegaly, in whom pancytopenia developed afterwards. A bone marrow aspiration was normal. Blood, urine, throat, stool and bone marrow cultures were negative as were serological tests for lues, Toxoplasma, Epstein-Barr virus and Widal's test. An abdominal CT scan showed enlarged retroperitoneal lymph nodes and an exploratory laparotomy was performed. Two lymph nodes were excised and a wedge biopsy of the liver was performed. The histological findings in the lymph nodes were compatible with the diagnosis of Kikuchi's disease. The patient became afebrile on the 2nd postoperative day without any treatment. He has been well for 4 months after discharge.