Gaucher’s Disease
Key Facts • Gaucher’s disease is an autosomal recessive condition. • Deficiency of beta glucosidase leads to accumulation of glucosylceramide in lysosomes of monocyte/macrophage lineage. • Hepatosplenomegaly and replacement of…
Key Facts • Gaucher’s disease is an autosomal recessive condition. • Deficiency of beta glucosidase leads to accumulation of glucosylceramide in lysosomes of monocyte/macrophage lineage. • Hepatosplenomegaly and replacement of…
Key Facts • Infections of the bones and joints result from one of three mechanisms of spread: (1) hematogenous, (2) contiguous, or (3) direct implantation. • Radiographic hallmarks of osteomyelitis…
Key Facts • Cysts and ganglia demonstrate similar imaging characteristics but may be distinguished in some instances by their location. • Cysts and ganglia may cause nerve compression. This occurs…
Key Facts • Fanconi syndrome and renal tubular acidosis are infrequent causes of osteomalacia and rickets. • Imaging manifestations include nephrocalcinosis. FANCONI SYNDROME Fanconi syndrome includes a heterogeneous group of…
Key Facts • Hypophosphatasia is an autosomal recessive disorder. • Radiographic findings of osteomalacia or rickets are present without abnormalities of vitamin D metabolism. • High levels of phosphoethanolamine are…
Key Facts • DiGeorge’s syndrome, type I autoimmune polyglandular syndrome, X-linked or autosomally inherited hypoparathyroidism, and PTH gene mutations are the most frequent causes of congenital hypoparathyroidism. • Pseudohypoparathyroidism (PHP)…
Key Facts • MRI has superior contrast resolution to CT. • CT, unlike MRI, can directly image trabecular and cortical bone. • Computed tomography (CT) has greater spatial resolution than…
Key Facts • Pedal complications are very common in the diabetic population due to neurologic and vascular disease and cause significant morbidity. • Neuropathic arthropathy results from a combination of…
Key Facts • Muscle is a dynamic tissue that can be subject to direct and indirect traumatic injuries. • Type 1 muscle fibers contain more numerous mitochondria, enabling longer, sustained…
Key Facts • Peripheral nerves are vulnerable to compression at sites of fibrous and fibroosseous tunnels. • Early diagnosis is important because early nerve injuries may be reversible, whereas late…