62 Hereditary Splenic Hypoplasia

Splenic Involvement in Hereditary Hemorrhagic Telangiectasia

A 33-year-old man who presented with prolonged epigastric pain was referred to our hospital. He had experienced recurrent epistaxis and had a family history of hereditary hemorrhagic telangiectasia. Computed tomography and magnetic resonance imaging revealed splenomegaly and a 9 cm hypervascular mass in his spleen. Computed tomography also showed a pulmonary arteriovenous malformation and heter...

Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs

BACKGROUND Lissencephaly is a rare developmental brain disorder in veterinary and human medicine associated with defects in neuronal migration leading to a characteristic marked reduction or absence of the convolutional pattern of the cerebral hemispheres. In many human cases the disease has a genetic basis. In sheep, brain malformations, mainly cerebellar hypoplasia and forms of hydrocephalus,...

Congenital hereditary endothelial dystrophy associated with nail hypoplasia.

Spontaneous and Traumatic Splenic Rupture: Retrospective Clinical, B-Mode and CEUS Analysis in 62 Patients

Introduction Both B-mode ultrasound and contrast-enhanced ultrasound (CEUS) are well established procedures when diagnosing traumatic splenic ruptures (TSR). To date, there are no data about CEUS patterns in spontaneous splenic ruptures (SSR). It remains unknown whether TSR and SSR differ with respect to clinical characteristics, B-mode and CEUS characteristics. Patients and Methods Between 1...

Recurrent meningitis in a child with combined IgA deficiency and splenic hypoplasia.

The sampling tube, an open-ended polyethylene feeding catheter sterilised by the manufacturer, is filled with sterile distilled water. A 2.0% suspension of agar in distilled water is prepared and enough cochineal to colour the solution is added. This is autoclaved at 44N/10 min to dissolve and sterilise the agar. When the solution has cooled to 60°C an 8 cm length of the coloured agar solution ...