Aminoglycosides typically create hearing loss in high or low frequency?
High frequency (8000 Hz). Only severe cases affect low frequency. Both hearing tests are better at detecting high frequency hearing loss but ABR are slightly better
Does furosemide cause reversible or irreversible hearing loss?
reversible sensorineural hearing loss
ptosis, anteverted nostils, micrognathia, toe syndactyly, hypospadias, cryptorchidism
smith lemli opitz
chromosome 11
cholesterol issues
Long term sequelae of PVL
spastic diplegia (legs>arms)
cognitive deficits
visual deficits
Sequelae of cerebellar hemorrhage
risk for cognitive, behavior, motor deficits just like PVL
reduced growth of the uninjured contralateral cerebral cortex
Where in the brain does hypoglycemic neuropathology occur? What makes it occur?
-b/l posterior occipital cortex but can also including middle cerebral infarction and basal ganglia/thalamic/movement
-risk related to duration of hypoglycemia
What is the pathogenesis (not genetics) of myotonic dystrophy?
altered protein (small and round with large nuclei and sparse myofibrils that don’t work well) leading to dysfunctional Na and K channels
Symptoms in fetus and with pregnancy in myotonic dystrophy
maternal symptoms?
polyhydramnios with disordered swallowing, uterine dysfunction and prolonged labor
inability to open eyes completely after tightly shutting and delayed release of hand grip
postnatal symptoms of myotonic dystrophy?
first hours or days after birth
facial diplegia: tent shaped mouth , poor oral motor function, resp failure, hypotonia and weakness, arthrygryposis, areflexia or hyporeflexia, muscle atrophy, mental deficiency
testing results of cpk, emg, ncs, biopsy of myotonic dystrophy?
-CPK normal
-EMG myotonic changes including dive bomber sound
-biopsy small and round muscle fibers with large nuclei and sparse myofibrils
-nerve conduction studies normal
What associated abnormalities form during primary (3-4 weeks)/secondary (4-7w) neurulation?
anencephaly
encephalocele
myelomenigocele
arnold-chiari malformation
What associated abnormalities form during prosencephalic development (2-3 mo)?
aprosencephaly
holoprosencephaly
agenesis of corpus callosum, agenesis/absence of septum pellucidum, septo optic dysplasia
What associated abnormalities form during neural and glial proliferation (3-5 mo)?
microencephaly
macrencephaly
What associated abnormalities form during neuronal migration (3-5 mo)?
schizencephaly - abnormal clefts of the brain
lissencephaly
pachygyria
polymicrogyria
What associated abnormalities form during neuronal organization (3months to birth)?
mental deficiency
trisomy 21
fragile X
autism
angelman syndrome
prematurity
What associated abnormalities form during myelination? Birth to years… adulthood
cerebral white matter hypoplasia
prematurity
malnutrition
corticospinal tract - 38 weeks to 2 years
Where is the tube closure in anencephaly? AFP low or high?
anterior
AFP elevated
Where is the tube closure in an encephalocele? AFP low or high?
Rostral neural tube resulting in herniation of meninges and brain tissue through skull defect
normal AFP (covered by skin)
cranial meningocele
encephalocele with no CNS tissue - just CSF
Pathophysiology of myelomeningocele
AFP high or low?
Difference between that and spinal meningocele?
failure of posterior neural tube closure. IF not covered by skin will have increased AFP
spinal meningocele? (one m) only meninges but not spine herniates through
what is the syndrome of encephalocele, polydactyly, polycystic kidneys, liver fibrosis?
Meckel-Gruber syndrome
autosomal recessive
disorder of cilia
Agenesis or hypolasia of cerebellar vermis, cystic dilation of 4th ventricle, enlargement of posterior fossa. MRI looks like posterior is replaced by fluid
Dandy Walker
mnemonic - johnny walker is a fluid (MRI looks like posterior is replaced by fluid)
disorder during porencephalic stage where there is defect in cleavage
holoprosencephaly. increased risk in diabetic mothers. autosomal recessive
half have chromosomal abnormality - esp trisomy 13
broad thumbs and big toes, SYNDACTYLY, craniosynostosis (usually coronal - think this specific gene), hypertelorism, midface hypoplasia, proptosis
CHD, pulm stenosis, override aorta
What gene affected?
Apert syndrome
autosomal dominant FGFR2 gene *** high yield
Crouzon doesn’t have syndactyly
