“ This is a rare, autosomal recessive disorder characterised by telangiectasia, cerebellar ataxia and immunodeficiency due to a lack of lymp...
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This is a rare, autosomal recessive disorder characterised by telangiectasia, cerebellar ataxia and immunodeficiency due to a lack of lymphoid tissue (spleen, thymus and lymph nodes). It gives rise to recurrent sinusitis, pneumonia and an increased risk of malignancy (10% develop lymphoma and leukaemia).
ULTRASOUND (US)
• Check for congenital asplenia.
CT
• Check for pulmonary vascular malformations.
• Ruptured teleangiectatic intracerebral vessels may cause intracerebral haemorrhage.
MRI
• Check for high signal on diffusion-weighted imaging (DWI) in keeping with infarcts (emboli shunted through pulmonary arteriovenous malformations [AVMs]).
• Expect a small cerebellum with atrophy of the anterior vermis and compensatory enlargement of the fourth ventricle.
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