Rhizomelic chondrodysplasia punctata is an autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones. Most fetuses with the disorder die in utero or shortly thereafter, and the few that survive suffer severe debility and profound mental retardation. Death ensues in the first decade of life. Relatively few reports discuss antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. We describe the prospective antenatal diagnosis of rhizomelic chondrodysplasia punctata in a fetus with no family history of the disorder, based on the sonographic findings of severe rhizomelic limb shortening in combination with premature ossification and stippling of multiple epiphyses. The ultrasonographic features and differential diagnosis of rhizomelic chondrodysplasia punctata are elaborated.
A 59-year-old woman with epilepsy was admitted to hospital with a 6-year history of fever of unknown origin (FUO). Computed tomography (CT) showed extensive low-attenuation mesenteric and retroperitoneal lymphadenopathy. Investigations for malignancy and infection were negative, including two separate excisional biopsies of lymph nodes. An ascending aortic aneurysm was seen on CT, and a diagnosis of large vessel vasculitis (LVV) was considered. A trial of prednisone for presumed LVV was initiated and then discontinued when positron emission tomography (PET) failed to show vasculitis. Repeat core biopsy of a mesenteric lymph node revealed non-necrotizing granulomatous inflammation and histiocytes with periodic acid–Schiff (PAS)-positive intracellular material. Electron microscopy and polymerase chain reaction (PCR) of the tissue confirmed Tropheryma whipplei. She was treated with ceftriaxone for 2 weeks, followed by long-term combination doxycycline and hydroxychloroquine. The patient's seizure control improved on therapy, raising the suspicion that the seizure disorder was due to Whipple's disease.
Intrahepatic splenosis results from autotransplantation of splenic tissue within the liver, usually after splenic trauma or splenectomy. We present a case of a 43-year-old male patient with an incidental liver lesion discovered on abdominal ultrasound. The diagnosis of intrahepatic splenosis was considered after CT and MRI before being definitively made with Tc-labeled heat-damaged RBC scintigraphy. The case report illustrates the imaging characteristics of this rare location of abdominal splenosis.
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