Neurocutaneous Disorders
People who have this neurocutaneous disorder are at higher risk of developing an acoustic neuroma.
Neurofibromatosis type 2
What is the most common cause of intellectual disability in the United States? (may be specific, or unknown)
Unknown, or idiopathic
When Dr. McCarthy started her psychiatry residency, how many co-residents of the same year did she have?
None
People who have this neurocutaneous disorder are at higher risk of developing cafe au lait spots and optic gliomas
Neurofibromatosis type I
Which chromosome is affected in VCF? (Velocardiofacial Syndrome)
22, microdeletion
What is the most common pathology among premature infants who develop Cerebral Palsy?
Periventricular Leukomalacia (destruction of white matter surrounding lateral ventricles)
"Ash Leaf" (Hypopigmented Macules) spots, Intractible Epilepsy, and "Shagreen Patches" (oval, orange-peel nevoids usually on trunk) are characteristics of this neurocutaneous disorder..
Tuberous Sclerosis
You see an 8 year old boy who seems to be behind on his intellectual milestones. He has obesity and has been ravenously insatiable. His parents have had to lock the fridge. You notice strabismus and poor muscle tone. What is the most likely congenital condition described?
Prader Willi
Who was the first program director for Millcreek Community Hospital's Psychiatry Program?
Dr. Dennis Borczon
You are passing by the OB unit and see that a baby has facial angioma in a trigeminal pattern. Which potential neurocutaneous disorder are you concerned about?
Sturge Weber Syndrome (or KT, PWS)
In a patient with a facial port wine birthmark, the overall risk of having SWS is only about 8% to 15%.
The risk of having SWS increases to 25% when half of the face, including the ophthalmic division of the trigeminal nerve is involved and rises to 33% when both sides of the face, including the ophthalmic division of the trigeminal nerve are involved.
You assess an unusually tall 5 year old male. He has pectus excavatum, elongated arms and legs, and his mother reports his ocular lens is discolated. Which is the most likely genetic cause of his intellectual disability?
Homocystinuria
Pathognomic: Ocular Lens Dislocation
Which pair of genetic disorders associated with intellectual delay is the result of genomic imprinting?
Prader Willi and Angelman Syndrome