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Letter
Multiple cerebral aneurysms and the Diamond-Blackfan syndrome
  1. R A Trivedi1,
  2. C Watts1,
  3. P J Kirkpatrick1,
  4. J H Gillard2
  1. 1University Department of Neurosurgery, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK
  2. 2University Department of Radiology, Addenbrooke's Hospital
  1. Correspondence to:
 Mr Kirkpatrick; 
 pjk21{at}medscl.cam.ac.uk


https://doi.org/10.1136/jnnp.72.5.678

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    A 17 month old girl presented with pallor, lethargy, and tiredness. She had an uncomplicated birth and no delays in attaining her developmental milestones. There was no family history of either neurological, haematological, or connective tissue disorders. There was no preterm exposure to noxious substances. On examination physical features were within normal limits. She was noted to have a squint in the left eye but no other craniofacial or musculoskeletal abnormalities. Investigations revealed a macrocytic anaemia (Hb 3.9 g/dl, MCV 105 fl) and on haemoglobin electrophoresis there was a raised level of HbF. Bone marrow examination showed erythroblast hypoplasia only. Erythrocyte adenosine deaminase (ADA) levels were moderately raised and a diagnosis of Diamond-Blackfan anaemia was made.

    Three months after presentation there was no change in red cell indices, and treatment with high dose prednisolone (2 mg/kg) was begun. There was marked symptomatic improvement within four weeks, without the need for blood transfusion. Maintenance prednisolone (1 mg/kg) was discontinued at the age of four years, by which stage her Hb had normalised while the MCV remained raised (100 fl). There were no relapses following cessation of steroids.

    At the age of nine years, she suffered recurrent small pneumothoraces. By the age of 16 she had become a heavy smoker and presented with a sudden onset of frontal headache …

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