Septo Optic Dysplasia: Difference between revisions
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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/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
- National Library of Medicine Genetics Home Reference: http://ghr.nlm.nih.gov/condition/septo-optic-dysplasia
- What is Septo-Optic Dysplasia? / What is Hypopituitarism? PDF link to Patient hand-outs