Catherine Raynaud-Ravni

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Thyroid transcription factor 1 (NKX2-1/TITF1) mutations cause brain-lung-thyroid syndrome, characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC). The objectives of the present study were (i) detection of NKX2-1 mutations in patients with CH associated with pneumopathy and/or BHC, (ii)(More)
Acute liver failure is unusual unusual in sickle cell anaemia. We describe a child with homozygous sickle cell anaemia who developed acute liver disease of abrupt onset during an episode of limb pain. She presented with sudden onset of persistent vomiting, headache, lethargy, epistaxis, and painful liver enlargement. Laboratory investigations were(More)
BACKGROUND Somatotropinoma, a pituitary adenoma characterised by excessive production of growth hormone (GH), is extremely rare in childhood. A genetic defect is evident in some cases; known genetic changes include: multiple endocrine neoplasia type 1 (MEN1); Carney complex; McCune-Albright syndrome; and, more recently identified, aryl hydrocarbon(More)
BACKGROUND The syndrome of generalized resistance to thyroid hormones is more frequent than was thought. CASE REPORTS A 13-year old girl was examined for her short stature. Evaluation of her thyroid function showed increased levels of IT3 and IT4 and normal value of TSH; she also had mosaic Turner's syndrome. Her cousin was rapidly diagnosed as suffering(More)
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