Difference between revisions of "Septo Optic Dysplasia"

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(Created page with "''(Adapted from Pocket Guide to Alaska Native Pediatric Diagnoses)'' <br/>'''Pathophysiology:''' Disorder o...")
 
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*vary depending on individual
 
*vary depending on individual
 
*If hypopituitarism, times of stress (fasting, illness, surgery, trauma) are high risk as well as newborn period due to:  ACTH/Cortisol deficiency => adrenal crisis in the first week of life (similar to CAH; does not show up on newborn screen); Thyroid deficiency (can show up on newborn screens as low T4); GH deficiency and ACTH deficiency => hypoglycemia
 
*If hypopituitarism, times of stress (fasting, illness, surgery, trauma) are high risk as well as newborn period due to:  ACTH/Cortisol deficiency => adrenal crisis in the first week of life (similar to CAH; does not show up on newborn screen); Thyroid deficiency (can show up on newborn screens as low T4); GH deficiency and ACTH deficiency => hypoglycemia
'''Resources:'''
+
===Resources/References===
 
*National Library of Medicine Genetics Home Reference: http://ghr.nlm.nih.gov/condition/septo-optic-dysplasia
 
*National Library of Medicine Genetics Home Reference: http://ghr.nlm.nih.gov/condition/septo-optic-dysplasia
 
*[[media:septo-optic dysplasia.pdf|What is Septo-Optic Dysplasia? / What is Hypopituitarism?]] PDF link to Patient hand-outs
 
*[[media:septo-optic dysplasia.pdf|What is Septo-Optic Dysplasia? / What is Hypopituitarism?]] PDF link to Patient hand-outs
  
 
[[Practicing Medicine in Bush Alaska—Some ABCs|Common/Unique Medical Diagnoses]]
 
[[Practicing Medicine in Bush Alaska—Some ABCs|Common/Unique Medical Diagnoses]]

Revision as of 22:01, 19 October 2020

(Adapted from Pocket Guide to Alaska Native Pediatric Diagnoses)
Pathophysiology: Disorder of early brain development resulting in wide variation of findings including hypopplasia of optic nerve, agenesis of corpus callosum and septum pellucidum, and/or pituitary hypoplasia.
Inheritance: Usually sporadic; occasionally autosomal recessive
Demographics:

  • 1:10,000 live births
  • unknown, but anecdotally higher incidence for Alaska Native populations

Signs/Symptoms:

  • Hypoplasia of optic nerve = impaired vision (one or both eyes), nystagmus
  • abnormal midline brain structure formation (corpus callosum) = intellectual disability, other neurologic problems including seizures
  • Pituitary anomalies (hypoplasia, ectopia, etc.) = growth hormone deficiency (most common), pan-hypopituitarism (also possible, at risk for adrenal crisis, hypothyroidism, micropenis)
  • Occasionally can have seizures, developmental delay, abnormal movements

Diagnosis:

  • Brain and pituitary MRI - thinning of optic nerves & chiasm, absence of septum pellucidum, Agenesis of the corpus callosum, Pituitary hypoplasia or posterior pituitary ectopia
  • Ophthalmology exam
  • Endocrinology evaluation
  • can be suspected initially based on prenatal ultrasound

Management:

  • varies depending on individual
  • consult YKHC Peds on call and assign CPP status
  • refer to Pediatric Endocrinology for regular endocrine evaluations
  • refer to Ophthalmology
  • refer to Family Infant Toddler (FIT)
  • refer to Pediatric Neurology in setting of seizures and neurologic deficits

Critical Times for Affected Patients:

  • vary depending on individual
  • If hypopituitarism, times of stress (fasting, illness, surgery, trauma) are high risk as well as newborn period due to: ACTH/Cortisol deficiency => adrenal crisis in the first week of life (similar to CAH; does not show up on newborn screen); Thyroid deficiency (can show up on newborn screens as low T4); GH deficiency and ACTH deficiency => hypoglycemia

Resources/References

Common/Unique Medical Diagnoses