Septo Optic Dysplasia - Revision history

JenniferH: /* Resources/References */

2020-11-20T15:42:59Z

Resources/References

← Older revision		Revision as of 15:42, 20 November 2020
Line 28:		Line 28:
	*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]]

JenniferH at 05:48, 18 November 2020

2020-11-18T05:48:48Z

← Older revision		Revision as of 05:48, 18 November 2020
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	*abnormal midline brain structure formation (corpus callosum) = intellectual disability, other neurologic problems including seizures		*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)		*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		*Occasionally can have seizures, [[Specific Types of Appointments and Procedural Processes#Developmental Delay\|developmental delay]], abnormal movements
	'''Diagnosis:'''		'''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		*Brain and pituitary MRI - thinning of optic nerves & chiasm, absence of septum pellucidum, Agenesis of the corpus callosum, Pituitary hypoplasia or posterior pituitary ectopia

JenniferH at 22:01, 19 October 2020

2020-10-19T22:01:56Z

← Older revision		Revision as of 22:01, 19 October 2020
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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]]

JenniferH: Created page with "''(Adapted from Pocket Guide to Alaska Native Pediatric Diagnoses)''
'''Pathophysiology:''' Disorder o..."

2020-09-24T10:24:38Z

Created page with "''(Adapted from Pocket Guide to Alaska Native Pediatric Diagnoses)'' <br/>'''Pathophysiology:''' Disorder o..."

New page

''(Adapted from [[media:Pocket-Guide-to-Alaska-Native-Pediatric-Diagnoses web.pdf|Pocket Guide to Alaska Native Pediatric Diagnoses]])''
<br/>'''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.
<br/>'''Inheritance:''' Usually sporadic; occasionally autosomal recessive
<br/>'''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:'''
*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

[[Practicing Medicine in Bush Alaska—Some ABCs|Common/Unique Medical Diagnoses]]

Septo Optic Dysplasia - Revision history

JenniferH: /* Resources/References */

JenniferH at 05:48, 18 November 2020

JenniferH at 22:01, 19 October 2020

JenniferH: Created page with "''(Adapted from Pocket Guide to Alaska Native Pediatric Diagnoses)'' '''Pathophysiology:''' Disorder o..."

JenniferH: Created page with "''(Adapted from Pocket Guide to Alaska Native Pediatric Diagnoses)''
'''Pathophysiology:''' Disorder o..."