SEPTO-OPTIC DYSPLASIA

Description

It  is a disorder of early brain development

Symptoms

  • Visual impairment
  • Movement and co-ordination difficulties
  • Pupil dilation in response to light
  • Short stature
  • Hypoglycaemia
  • Hypernatraemia
  • Hypotonia
  • Late puberty
  • Growth hormone deficiency
  • Developmental delay
  • Sleep disturbances
  • Autistic behaviours
  • Weight gain

Causes

  • Mutation or change in gene
  • Environmental factors

Risk Factors

  • Maternal diabetes
  • Medications
  • Quinidine ingestion
  • Antiepileptics
  • Drug and alcohol abuse
  • Cytomegalovirus infection

Diagnostic Tests

  • Prenatal ultrasound scanning
  • Blood tests
  • Vision test
  • MRI of Brain
  • Development assessments

Treatment

  • Multidisciplinary approach involving different specialists
  • Hormone replacement therapy
  • Physiotherapy
  • Occupational therapy
  • Speech therapy

Lifestyle Management

  • Support for visual impairment
  • Neurodevelopmental services