power point
TRANSCRIPT
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SEPTO-OPTIC DYSPLASIA
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SOD: Definition
• Variable combination of midline forebrain abnormalities, eye abnormalities and pituitary abnormalities
• Rare: reported incidence 1/50000; probably commoner
• 2/3 features to make the diagnosis
• Commoner in younger mothers
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Forebrain abnormalities
• In 75-80% of patients
• Absence of septum pellucidum
• Absence of corpus callosum
• Cerebellar hypoplasia
• Schizencephaly
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Consequences of forebrain anomalies
• Fits
• Behavioural difficulties
• Learning difficulties
• Developmental delay
• Hemiplegia
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Optic nerve hypoplasia
• Unilateral/bilateral
• Bilateral commoner
• Associated with anopthalmia/micropthalmia
• Visual impairment variable - complete to compensated
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Pituitary gland
• Develops from the oral cavity in the embryo and the brain (hypothalamus)
• 5 different cell types in anterior pituitary producing 6 different hormones
• Secretion of hormones regulated by hypothalamus
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Anterior pituitary gland
• Growth hormone: growth and helps maintain normal blood sugar levels in children; increases bone strength, muscle mass and decreases fat mass and heart disease in adults
• ACTH: regulates production of cortisol and androgens from adrenal glands; cortisol essential for normal well-being and to fight stress and infection
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Anterior pituitary gland
• Prolactin: important for lactation, ?immune system
• FSH, LH: important for puberty and fertility; LH important for normal development of males and for descent of testes into scrotum
• TSH: important for regulation of thyroid gland and thyroxine production
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Posterior pituitary gland
• Vasopressin: important for normal fluid balance - retains water by controlling reabsorption of water in kidney tubules
• Oxytocin: important for parturition (birth) and ejection of milk
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Pituitary Hormone Deficiency
• GH: poor growth with eventual short stature, possibly increased incidence of myocardial infarction
• Prolactin: no lactation• ACTH: low cortisol leading to low blood sugar,
lethargy, inability to fight stress and infection, low blood pressure, low sodium level in blood, collapse
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Pituitary Hormone Deficiency
• FSH, LH: inadequate sexual development in males, lack of puberty, lack of fertility
• TSH: lack of thyroxine with slowness, cold intolerance, constipation, growth failure, mental retardation if not picked up early
• Vasopressin: diabetes insipidus with excessive urinary output
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Complexity of hypothalamo-pituitary development
• Early puberty: can be explained on basis of hypothalamic involvement
• Occasionally mixed involvement of hypothalamus and pituitary
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Clinical features of SOD
• Conjugated jaundice• Neurological features• Variable visual loss• Impaired sense of smell• Endocrine features• Behavioural disturbances eg. autism• Sleep disturbance
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MRI SCANS OF SOD PATIENTS
CONTROL SIBLING 2 SIBLING 1
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Management of SOD
• Support from Neurologists and Opthalmologists: treatment of convulsions
• Mainstay of treatment: endocrine
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Endocrine replacement
• Growth hormone: daily subcutaneous injections
• Hydrocortisone: X3 doses daily; adjustment with illness/stress
• DDAVP: nasal/oral
• Thyroxine
• Ethinyloestradiol/testosterone
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Investigations
• MRI scan of brain• Visual evoked responses/electroretinogram• Routine electrolyte measurement• Thyroid function tests• Pituitary function tests:
glucagon/insulin/LHRH/TRH - in tertiary centres ideally
• Fluid balance
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Monitoring
• Evolving - new endocrine features may develop
• Monitoring of growth rate at regular intervals
• Monitoring through puberty
• Regular checks of thyroid function, watch fluid balance
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Long-term outlook
• Short stature
• Developmental/intellectual impairment
• Fits, hemiparesis etc
• Impaired fertility
• Visual impairment
• Sleep/behavioural difficulties
• Obesity
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Why do you get SOD?
• Development of pituitary gland, forebrain, olfactory bulbs and eyes all from the same part of the early embryo. Problems occur at 3-6 weeks of gestation
• Environment and teratogens
• Familial cases: dominant or recessive
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Genetics of SOD
• Mutations in HESX1: Dominant or recessive
• Occasionally, one abnormal copy of gene carried with no phenotype in parent but child affected
• Number of other developmental genes may also be involved: all extrapolated from animal studies
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Research
• New genes involved in SOD: what is their function
• Why the variability in severity
• Sleep/wake cycles in children with SOD and hypothalamic involvement and the use of melatonin (10-18 year olds)