Israel Medical Association Journal

Background: Sarcoidosis is a multisystemic disorder of unknown cause that primarily affects the lungs. The diagnosis is made by the clinical manifestations, radiological findings and histological examination.

Objectives: To review and illustrate the typical and atypical radiological findings of sarcoidosis in the chest.

Methods: We analyzed the radiographic thoracic findings of all patients who had biopsy-proven sarcoidosis over the last 10 years.

Results: There were 100 consecutive patients (36 men and 64 women, age 20–84 years) with an established diagnosis of sarcoidosis. Thoracic lymphadenopathy was detected in 89 patients (89%). Lung parenchyma involvement was found in 60 patients. These changes were variable and included: ground glass attenuation (n=39), multiple small nodules (n= 44) and irregular thickening of the interlobular septa (n=16). Larger nodules (1–3 cm) were identified in 12 patients and frank consolidations were seen in 12 patients. Pleural thickening with subpleural nodules was identified in 17 patients.

Conclusions: Sarcoidosis has a wide variety of radiological manifestations in the chest. Familiarity with the various radiographic findings is important for diagnosis and management.
 

Background: With regard to ethnic predilections for Gaucher disease, the most common storage disorder, Ashkenazi Jews are at risk for the non-neuronopathic form (type I), Norbottnian Swedes are at risk for the sub-acute neuronopathic form (type III), and perhaps Arabs are at risk for the very rare cardiac variant of the sub-acute neuronopathic form (type IIIc) for which there is a relatively tight genotype-phenotype correlation. Type II, the acute infantile form, being the rarest form, has not been associated with any ethnic predilection.

Objectives: To examine whether Arab ethnicity influences the Gaucher phenotype.

Methods: We reviewed the records of all Arab patients in a referral clinic of 586 patients in Israel.

Results: There were 46 patients (7.8%) of Arab ethnicity: 23 (50%) had type I disease, 16 (34.8%) had type IIIc disease, 4 (8.7%) had type IIIb disease, and 3 (6.5%) had type II disease. Type IIIc disease was characterized by genotype-phenotype correlation with homozygosity for the D409H (1342C) mutation. All five Bedouin patients (10.9%) had the R48W (C259T) mutation on at least one allele.

Conclusions: For all genotypes, disease severity among Arab patients was relatively similar to that reported among other Caucasian patients. Apparently Arab ethnicity does not impact phenotypic expression in Gaucher disease in a unique manner. The predilection for type IIIc may be a result of consanguinity.
 

Objective: To investigate the clinical, laboratory and radiological findings of the disease.

Methods: During the years 1995-88 five patients with primary epiploic appendigitis were diagnosed at our institution. The clinical, laboratory and imaging results were summarized and compared to previously reported series. Emphasis was placed on the computed tomography findings, which are the gold standard for diagnosis.

Results: All our patients (two males and three females, mean age 47 years) presented with left lower quadrant abdominal pain. CT proved to be the imaging modality of choice in all patients by showing a pericolic fatty mass with an increased attenuation as compared to normal abdominal fat. In all cases the mass was surrounded by a high attenuation rim, and focal stranding of the fat was observed. In no case was there thickening of the adjacent bowel wall. This serves as an important, and previously unreported, clue for diagnosis.

Conclusion: Primary epiploic appendagitis is a relatively rare condition that may be clinically misdiagnosed, resulting in unnecessary surgical intervention. Judicious interpretation of CT may lead to early diagnosis and ensure proper conservative treatment.