360 Neuro-crine

Question 1

Achondroplasia features

Answer 1

extremely short extremities; prominent foreheads; short, stubby fingers; and marked lumbar lordosis

complication: hydrocephalus secondary to bony overgrowth at the foramen magnum

Question 2

Achondroplasia is inherited in an______________

manner

Answer 2

autosomal dominant

~most cases represent spontaneous mutations in unaffected parents.

Question 3

Albright hereditary osteodystrophy

Answer 3

shortness of stature with delayed bone age
mental
retardation
increased bone density
brachydactyly (4th and 5th digits)
obesity with round facies and short neck
cataracts
cutaneous and subcutaneous calcifications
perivascular calcifications of the basal ganglia

Question 4

Risk of child with immobilization

Answer 4

hypercalcemia

measure serial Ca vs creatinine

Question 5

Salt-losing congenital adrenal hyperplasia lab findings

Answer 5

manifests during the first 5 to 15 days of life as anorexia, NVD, and dehydration.

Hyponatremia, hyperkalemia, and urinary sodium wasting are the usual laboratory findings.

Question 6

Adrenal hyperplasia 21-hydroxylase deficiency

Answer 6

Most common
Presents in infancy (salt wasting) or childhood
(precocious puberty) XX: virilization

↑ Sex hormone, K
↓ Mineralocorticoids, BP

Question 7

urine turns dark brown or black on exposure to

air

Answer 7

alkaptonuria- deficiency of homogentisic acid oxidase

Question 8

Dubin-Johnson syndrome

Answer 8

inherited as an autosomal recessive condition with patients being unable to excrete conjugated bilirubin.

Question 9

Intestinal absorption of ___________ is diminished in vitamin D deficiency.

Answer 9

calcium and phosphorus

Question 10

Hypothyroidism on the growth chart

Answer 10

nrml growth followed by abrupt falling off the chart

Question 11

What is the most common cause of congenital hypothyroidism

Answer 11

Thyroid dysgenesis

Question 12

Febrile sz vs age

Answer 12

Febrile seizures rare beyond 5 years of age.

Question 13

autoimmune-demyelinating disease seen in children less than 10 years

Answer 13

Acute disseminated encephalomyelitis (ADEM) similar to multiple sclerosis

may follow viral infection

rx: high-dose corticosteroids

Question 14

Homocystinuria

Answer 14

poor growth, arachnodactyly, osteoporosis, dislocated lenses, and mental retardation

deficiencies of cystathionine β-synthase

Question 15

abnormality of the metabolism of leucine

Answer 15

maple syrup urine disease

s/s: seizures and rapid deterioration of the CNS in newborn infants

Question 16

Childhood stroke can result from

Answer 16

trauma
infection
hypercoagulable state
arteritis
congenital structural
metabolic disorders

Question 17

absence of β-hexosaminidase A activity in WBCs

Answer 17

Tay-Sachs disease

Question 18

Niemann-Pick disease deficiency

Answer 18

sphingomyelinase

Question 19

galactocerebroside β-galactosidase deficiency

Answer 19

Krabbe disease

irritability, seizures, hypertonia, and optic atrophy, with severe delay and death usually in the first 3 years of life

Question 20

Tay-Sachs disease deficiency

Answer 20

absence of β-hexosaminidase A activity in WBCs

Question 21

sphingomyelinase deficiency

Answer 21

Niemann-Pick disease

normal-appearing child at birth who then develops
hepatosplenomegaly, lymphadenopathy, and psychomotor retardation in the first 6 months

Question 22

β-galactosidase deficiency

Answer 22

Fabry disease

childhood with angiokeratomas in the “bathing trunk
area,” ultimately resulting in severe pain episodes.

Question 23

Krabbe disease deficiency

Answer 23

galactocerebroside β-galactosidase deficiency

Question 24

Fabry disease deficiency

Answer 24

β-galactosidase

Question 25

myotonic muscular dystrophy

Answer 25

Ptosis
 baldness
 hypogonadism
facial immobility 
distal muscle wasting (older)
neonatal respiratory distress 
elevated creatine kinase

Question 26

After _________-of age, supratentorial tumors (eg, diffuse astrocytoma) are again more common

Answer 26

10 years and up

one year and younger

Question 27

Charcot-Marie-Tooth disease has a clinical onset including

Answer 27

peroneal and intrinsic foot muscle atrophy

atrophy extending to the intrinsic hand muscles and proximal legs.

Question 28

In infants, _________________ are characteristic of tuberous sclerosis

Answer 28

achromic skin patches aka “ash-leaf” lesions, especially in association with infantile spasms

Question 29

spinal muscular atrophy (SMA) type I

Answer 29

aka Werdnig-Hoffman

anterior horn degeneration

Question 30

Absence of __________ is seen in muscular dystrophy

Answer 30

dystrophin