CLINICAL NEUROLOGY - Genetic Disorders

Question 1

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)

Answer 1

Attention-Deficit/Hyperactivity

Disorder

Question 2

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)

Answer 2

DiGeorge syndrome

Question 3

Which developmental disorders are
associated with same locus of
chromosome 15, but with different
phenotype expression? (2x)

Answer 3

Prader-Willi and Angelman

Question 4

Genetic abnormality of velocardiofacial

syndrome? (2x)

Answer 4

Gene deletion

Question 5

Child w/tumors in brain, heart, and
kidneys, seizures, intellectual disability.
Likely presents with sx of? (2x)

Answer 5

Autism

Question 6

Psychotic adolescent with self-injurious
behavior and chorea with elevated LFTs.
Diagnosis? (2x)

Answer 6

Wilson Disease

Question 7

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?

Answer 7

24-hour urine copper test

Question 8

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?

Answer 8

Wilson disease

Question 9

Highly comorbid with Fragile X?

Answer 9

ADHD

Question 10

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?

Answer 10

Cafe Au Lait spots

Question 11

How can you determine carrier status for
Fragile X syndrome for pre-pregnancy
planning?

Answer 11

Southern blot

Question 12

What is comorbid with syndrome of
hypotonia, obesity, small hands, short
stature, micro-orchidism, and paternal
deletion of 15q11-15q13?

Answer 12

Compulsions

Question 13

Child with hyperphagia, obesity, intellectual disability, aggressive behavior, and
obsessive-compulsive tendencies. Result of what genetic error?

Answer 13

Deletion

Question 14

15 yo male with intellectual disability,
short, hypogonadism, low muscle tone.
What other symptom may be present?

Answer 14

Hyperphagia

Question 15

What intellectual disability is most

commonly associated with OCD?

Answer 15

Prader-Willi

Question 16

MRI shows symmetric basal ganglia lesions, child gets up from floor by pushing up with hands, grows progressively weaker.
Diagnosis?

Answer 16

Mitochondrial disorder

Question 17

How do you rule out a particular condition associated with Down’s syndrome?

Answer 17

Echocardiogram

Question 18

What has contributed to the improved
ability to identify the ideology for
intellectual disability?

Answer 18

Genetic factors

Question 19

Young child with seizures, ID, port wine

stain on half of face. Diagnosis?

Answer 19

Sturge-weber syndrome

Question 20

17 yo patient with malar distribution rash,
macules on arms, bright lesions in cortex on MRI indicating tubers. What is the
associated psych diagnosis?

Answer 20

Autism spectrum disorder

Question 21

Psychiatric disorders most frequently

concurrent with Neurofibromatosis I?

Answer 21

Autism, Depression, ADHD

Question 22

Child with ADHD having more difficulty
getting up from floor to chair over past 6
months. Diagnosis?

Answer 22

Duchenne muscular dystrophy

Question 23

Child who repeatedly trips and sprains
ankles, climbs up his legs using hands in
order to stand. Diagnosis?

Answer 23

Duchenne muscular dystrophy

Question 24

Four year old with limited social skills,
facial angiomas, hypopigmented spot,
absence seizures?

Answer 24

Tuberous sclerosis

Question 25

To reduce intellectual disability in patients with homocystinuria, give which vitamin?

Answer 25

Vitamin B6

Question 26

Karyotyping is still the preferred test in?

Answer 26

Prenatal trisomies

Question 27

Fragile X syndrome genetic abnormality

Answer 27

Trinucleotide expansion

Question 28

Genetic syndrome caused by

microdeletion?

Answer 28

Williams syndrome

Question 29

In Rett and Fragile X syndromes, what is the function of Mecp2 (methyl-CpG-binding protein)?

Answer 29

Transcription

Question 30

8 yo child with learning problems, scoliosis, various light brown spots on skin, now with increasing visual complaints. What would
also be found on exam?

Answer 30

Axillary freckling

Question 31

Adopted 3 yo with no newborn screening, epilepsy, ID, microcephaly, fair skin, blonde, blue eyes. What is the inborn error of
metabolism?

Answer 31

Phenylketonuria