{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T09:01:47Z","timestamp":1762506107689,"version":"3.40.4"},"reference-count":30,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>A 7-year-old boy was admitted for a general tonic-clonic seizure with severe hypoglycaemia (1.39\u2005mmol\/l). His medical history was remarkable for a congenital left eye strabismus, unilateral cryptorchidism and three previous episodes of hypoglycaemic seizures with inconclusive metabolical and neurological investigations. Physical examination revealed a hoarse tone voice, dry skin, cold extremities and height in the third percentile (target height between 50th and 85th percentile). Left wrist radiography revealed a bone age of 4.5\u2005years \u00b16\u2005months Laboratory studies confirmed growth hormone deficiency and central hypothyroidism. The brain MRI showed an ectopic neurohypophysis. Neuroophthalmology investigation revealed left optic nerve hypoplasia and septo-optic dysplasia was then diagnosed. Thyroid and recombinant growth hormone replacement were started showing clinical improvement. A detailed clinical history and a careful physical examination in children presenting with multiple clinical signs of hypopituitarism may lead to a timely diagnosis, avoiding clinical morbidity associated to untreated hormonal abnormalities.<\/jats:p>","DOI":"10.1136\/bcr-2013-009596","type":"journal-article","created":{"date-parts":[[2013,5,25]],"date-time":"2013-05-25T06:03:44Z","timestamp":1369461824000},"page":"bcr2013009596","source":"Crossref","is-referenced-by-count":9,"title":["Septo-optic dysplasia: fitting the pieces together"],"prefix":"10.1136","volume":"2013","author":[{"given":"N\u00e9lia","family":"Ferraria","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sofia","family":"Castro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Amaral","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lurdes","family":"Lopes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,5,24]]},"reference":[{"key":"2025042708054369000_2013.may24_1.bcr2013009596.1","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1038\/ejhg.2009.125","article-title":"Septo-optic dysplasia","volume":"2013","author":"Webb","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"2025042708054369000_2013.may24_1.bcr2013009596.2","first-page":"267","article-title":"\u00c9tudes sur les dysraphies cranio-encephaliques: III. 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