Skeletal Manifestations of Gaucher's Disease: A Case Report and Literature Review.

Gaucher's disease (GD) is a lysosomal storage disorder characterized by the storage of glucosylceramide in macrophages ("Gaucher cells"), mainly in the reticuloendothelial system. GD type 1 (GD1) is the most common phenotype that usually manifests with hepatosplenomegaly, cytopenias, and bone involvement. Skeletal manifestations are the most debilitating characteristic and result in significant morbidities. We describe a case of GD1, first presented by a nontraumatic bone fracture. The case presentation highlights the importance of considering GD among the differential diagnosis of nontraumatic fractures, avascular necrosis, and infarcts of the bones. Early diagnosis and treatment improve the course of disease and avoid irreversible sequelae.

Value of ultrasound assessment for traumatic nerve injury of the upper limb.

AIM OF WORK: The type of traumatic peripheral nerve injury is a key factor for determining optimal treatment. Proper assessment of peripheral nerve injury facilitates appropriate treatment, significantly affects prognosis, and reduces disabilities. This study evaluated ultrasonography (US) to assess upper limb traumatic nerve injuries and compared the US with electrodiagnostic studies as the gold standard. MATERIALS AND METHODS: Participants were 69 adults (57 [83%] men, 12 [17%] women; mean age 36.3 ± 13.5 years) with a total of 96 peripheral nerve injuries (duration of 1 month-3 years). High-frequency US examinations and electro-physiologic studies confirmed upper limb peripheral nerve injury. RESULTS: Nerve discontinuation was diagnosed in 15 (15.6%) nerves; the cross-sectional area was increased in 33 (34.4%) nerves. Of 96 injuries, 54 (56.3%) were median, 24 (25%) were ulnar, and 18 (18.8%) were radial nerves. No statistically significant difference was found between US and electro-physiologic studies for nerve injury diagnosis (p = 0.054). CONCLUSION: No significant differences were found between US and electro-physiologic studies for diagnosis of nerve injuries; however, US was valuable to assess surrounding tissue and supplied muscles. The capabilities to detect nerve injury and associated distal muscular, vascular, and other regional structures position the US as a complementary diagnostic tool.