360 Neuro-crine Flashcards
Achondroplasia features
extremely short extremities; prominent foreheads; short, stubby fingers; and marked lumbar lordosis
complication: hydrocephalus secondary to bony overgrowth at the foramen magnum
Achondroplasia is inherited in an______________
manner
autosomal dominant
~most cases represent spontaneous mutations in unaffected parents.
Albright hereditary osteodystrophy
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
Risk of child with immobilization
hypercalcemia
measure serial Ca vs creatinine
Salt-losing congenital adrenal hyperplasia lab findings
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.
Adrenal hyperplasia 21-hydroxylase deficiency
Most common
Presents in infancy (salt wasting) or childhood
(precocious puberty) XX: virilization
↑ Sex hormone, K
↓ Mineralocorticoids, BP
urine turns dark brown or black on exposure to
air
alkaptonuria- deficiency of homogentisic acid oxidase
Dubin-Johnson syndrome
inherited as an autosomal recessive condition with patients being unable to excrete conjugated bilirubin.
Intestinal absorption of ___________ is diminished in vitamin D deficiency.
calcium and phosphorus
Hypothyroidism on the growth chart
nrml growth followed by abrupt falling off the chart
What is the most common cause of congenital hypothyroidism
Thyroid dysgenesis
Febrile sz vs age
Febrile seizures rare beyond 5 years of age.
autoimmune-demyelinating disease seen in children less than 10 years
Acute disseminated encephalomyelitis (ADEM) similar to multiple sclerosis
may follow viral infection
rx: high-dose corticosteroids
Homocystinuria
poor growth, arachnodactyly, osteoporosis, dislocated lenses, and mental retardation
deficiencies of cystathionine β-synthase
abnormality of the metabolism of leucine
maple syrup urine disease
s/s: seizures and rapid deterioration of the CNS in newborn infants
Childhood stroke can result from
trauma infection hypercoagulable state arteritis congenital structural metabolic disorders
absence of β-hexosaminidase A activity in WBCs
Tay-Sachs disease
Niemann-Pick disease deficiency
sphingomyelinase
galactocerebroside β-galactosidase deficiency
Krabbe disease
irritability, seizures, hypertonia, and optic atrophy, with severe delay and death usually in the first 3 years of life
Tay-Sachs disease deficiency
absence of β-hexosaminidase A activity in WBCs
sphingomyelinase deficiency
Niemann-Pick disease
normal-appearing child at birth who then develops
hepatosplenomegaly, lymphadenopathy, and psychomotor retardation in the first 6 months
β-galactosidase deficiency
Fabry disease
childhood with angiokeratomas in the “bathing trunk
area,” ultimately resulting in severe pain episodes.
Krabbe disease deficiency
galactocerebroside β-galactosidase deficiency
Fabry disease deficiency
β-galactosidase
myotonic muscular dystrophy
Ptosis baldness hypogonadism facial immobility distal muscle wasting (older) neonatal respiratory distress elevated creatine kinase
After _________-of age, supratentorial tumors (eg, diffuse astrocytoma) are again more common
10 years and up
one year and younger
Charcot-Marie-Tooth disease has a clinical onset including
peroneal and intrinsic foot muscle atrophy
atrophy extending to the intrinsic hand muscles and proximal legs.
In infants, _________________ are characteristic of tuberous sclerosis
achromic skin patches aka “ash-leaf” lesions, especially in association with infantile spasms
spinal muscular atrophy (SMA) type I
aka Werdnig-Hoffman
anterior horn degeneration
Absence of __________ is seen in muscular dystrophy
dystrophin
