Septo-optic dysplasia: fitting the pieces together

BMJ Case Rep. 2013 May 24:2013:bcr2013009596. doi: 10.1136/bcr-2013-009596.

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.

Publication types

  • Case Reports

MeSH terms

  • Anticonvulsants / therapeutic use
  • Carbamazepine / therapeutic use
  • Child
  • Electroencephalography
  • Humans
  • Hypoglycemia / complications
  • Hypoglycemia / diagnosis
  • Hypoglycemia / physiopathology
  • Hypopituitarism / complications
  • Hypopituitarism / diagnosis*
  • Hypopituitarism / physiopathology
  • Magnetic Resonance Imaging
  • Male
  • Seizures / drug therapy
  • Seizures / etiology
  • Seizures / physiopathology
  • Septo-Optic Dysplasia / complications
  • Septo-Optic Dysplasia / diagnosis*
  • Septo-Optic Dysplasia / physiopathology

Substances

  • Anticonvulsants
  • Carbamazepine