CLINICAL NEUROLOGY - Genetic Disorders Flashcards
Child has multiple hyperpigmented, ovoid, and smooth macules on the arms, chest, and back with freckling in both axillae. Mother also has macules, freckling in axilla, and optic tumor. What psychiatric symptoms does the child likely have? (2x)
Attention-Deficit/Hyperactivity
Disorder
16 yo adolescent with newly diagnosed Schizophrenia has history of language delay. Pt has long narrow face, small mouth, hypernasal speech with history of cleft palate and ventricular septal defect. Syndrome? (2x)
DiGeorge syndrome
Which developmental disorders are
associated with same locus of
chromosome 15, but with different
phenotype expression? (2x)
Prader-Willi and Angelman
Genetic abnormality of velocardiofacial
syndrome? (2x)
Gene deletion
Child w/tumors in brain, heart, and
kidneys, seizures, intellectual disability.
Likely presents with sx of? (2x)
Autism
Psychotic adolescent with self-injurious
behavior and chorea with elevated LFTs.
Diagnosis? (2x)
Wilson Disease
16 yo male with persistent irritability,
depression, and impulsivity despite many
medications and therapy. On exam, pt has tremor, drooling, speech problems, and
brownish tinge of cornea. Screening tool?
24-hour urine copper test
Diagnosis for a 14 year old adolescent with defiant behavior at home and school who presents with generalized dystonia, wing beating action tremor in the arms and forced grin?
Wilson disease
Highly comorbid with Fragile X?
ADHD
Common finding in 7 yo with worsening
vision in left eye, headaches, skin changes, father also had same skin changes, edema of optic disc seen on exam?
Cafe Au Lait spots
How can you determine carrier status for
Fragile X syndrome for pre-pregnancy
planning?
Southern blot
What is comorbid with syndrome of
hypotonia, obesity, small hands, short
stature, micro-orchidism, and paternal
deletion of 15q11-15q13?
Compulsions
Child with hyperphagia, obesity, intellectual disability, aggressive behavior, and
obsessive-compulsive tendencies. Result of what genetic error?
Deletion
15 yo male with intellectual disability,
short, hypogonadism, low muscle tone.
What other symptom may be present?
Hyperphagia
What intellectual disability is most
commonly associated with OCD?
Prader-Willi
MRI shows symmetric basal ganglia lesions, child gets up from floor by pushing up with hands, grows progressively weaker.
Diagnosis?
Mitochondrial disorder
How do you rule out a particular condition associated with Down’s syndrome?
Echocardiogram
What has contributed to the improved
ability to identify the ideology for
intellectual disability?
Genetic factors
Young child with seizures, ID, port wine
stain on half of face. Diagnosis?
Sturge-weber syndrome
17 yo patient with malar distribution rash,
macules on arms, bright lesions in cortex on MRI indicating tubers. What is the
associated psych diagnosis?
Autism spectrum disorder
Psychiatric disorders most frequently
concurrent with Neurofibromatosis I?
Autism, Depression, ADHD
Child with ADHD having more difficulty
getting up from floor to chair over past 6
months. Diagnosis?
Duchenne muscular dystrophy
Child who repeatedly trips and sprains
ankles, climbs up his legs using hands in
order to stand. Diagnosis?
Duchenne muscular dystrophy
Four year old with limited social skills,
facial angiomas, hypopigmented spot,
absence seizures?
Tuberous sclerosis
