title: Septo-optic dysplasia: fitting the pieces together.
abstract: A 7-year-old boy was admitted for a general tonic-clonic seizure with severe hypoglycaemia (1.39 mmol/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 years ±6 months 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.
authors.affiliation: Department of Pediatrics, Hospital Nossa Senhora do Rosário, Centro Hospitalar Barreiro-Montijo, Barreiro, Portugal. neliaferraria@gmail.com
authors.forename: Nélia
authors.initials: N
authors.lastname: Ferraria
authors.forename: Sofia
authors.initials: S
authors.lastname: Castro
authors.forename: Daniela
authors.initials: D
authors.lastname: Amaral
authors.forename: Lurdes
authors.initials: L
authors.lastname: Lopes
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D002220:Carbamazepine / Q000627:therapeutic use; D002648:Child; D004569:Electroencephalography; D006801:Humans; D007003:Hypoglycemia / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology; D007018:Hypopituitarism / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D012640:Seizures / Q000188:drug therapy / Q000209:etiology / Q000503:physiopathology; D025962:Septo-Optic Dysplasia / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology
chemical_list: D000927:Anticonvulsants; D002220:Carbamazepine