Neuro/Developmental (6%) Flashcards
What congenital heart disease may be present in a patient with Down Syndrome?
Atrioventricular septal defect
ventricular septal defect, atrial septal defect, tetralogy of Fallot, patent ductus arteriosus
Tx for absence sz?
Tx for Grand mal sz?
Tx for status epilepticus?
Tx for febrile myoclonus?
Tx for absence sz: Ethosuximide
Tx for Grand mal sz: Valproic acid, phenytoin, carbamazepine, lamotrigine
Tx for status epilepticus: Lorazepam or Diazepam, then phenytoin, then phenobarbital
Tx for febrile myoclonus: Phenobarbital
What will provide a definitive dx of Turner’s syndrome?
Karyotyping
45, XO, mosaicism, or X chromosome abnormalities
High serum FSH & LH levels
What does the term “mosaicism” mean in reference to Turner’s syndrome?
Some cells have a combination of X monosomy (45,XO - missing X chromosome), some cells that are normal (46,XX), cells with partial monosomies (X/abnormal X), or cells that have a Y chromosome (46,XY).
What is the recommended management of Turner’s Syndrome?
GH (may increase final height)
Estrogen/progesterone replacement to cause pubertal development
What is the Simian crease? With what d/o is it associated with?
Palmar crease seen in pts with Down Syndrome
What are the two types of meningitis?
Bacterial meningitis: bacterial infection of the meninges
Aseptic meningitis: NOT caused by pyogenic bacteria, includes viral fungal and TB (viral is often referred to as aseptic)
What are the two types of partial sz?
The four different types of generalized sz?
What is the condition called when a pt suffers from repeated generalized sz w/o recovery >30 minutes?
Partial: Simple Partial, Complex partial (temporal lobe)
Generalized (both hemispheres involved): Absence (petit mal), Tonic Clonic (grand mal), Myoclonus, Atonic
Status Epilepticus
What are some PE findings one might expect to see in a pt with Turner’s syndrome?
short stature, webbed neck, prominent ears, low posterior hairline, broad chest with hypoplastic widely-spaced nipples, (congenital lymphedema seen in neonates), short 4th metacarpals, high-arched palate, nail dysplasia. May have hearing loss
Tx for viral meningitis?
Supportive care (antipyretics, IV fluids, antiemetics)
What cardiac conditions might one expect to find in a pt with Turner’s Syndrome?
coarctation of the aorta (30%), mitral valve prolapse, bicuspid aortic valves, aortic dissection, HTN
What are the most common pathogens and their respective abx txs? for acute bacterial meningitis in the following age groups?
<1 month
1 month-18 y/o
18 y/o-50 y/o
>50 y/o
<em>See image below</em>
What shape of kidney might a pt with Turner’s Syndrome have?
Horseshoe kidney
What are some examples of meningeal sx?
headache/nuchal rigidity (stiff neck), photosensitivity, nausea/vomiting
What is a (+) Kernig’s sign?
(+) Brudzinski’s?
(+) Kernig’s: Inability to straighten knee with hip flexion
(+) Brudzinski’s: Neck flexion produces hip/knee flexion
What is the recommended abx for post exposure prophylaxis against acute bacterial meningitis?
Ciprofloxacin 500mg PO x1 dose
LP performed on a pt with viral meningitis will show what two findings?
Lymphocytosis and normal glucose
Down Syndrome is otherwise referred to as Trisomy ____
Trisomy 21
as there are three copies of chromosome 21, or three copies of a region of the long arm of chromosome 21
What viral family is the most common cause of viral meningitis?
Viral meningitis is commonly associated with (abnormal/normal) cerebral function
Enterovirus family (i.e. Coxsackie, Echovirus)
Normal cerebral fxn
Teething usually begins around what age?
When is the normal range for teeth to start coming in?
By the time a child is _____, he/she will have all 20 primary teeth
What teeth usually come in first?
Around 6 months of age
It is normal for teething to start at any time between 3-12 months
~ 3 y/o
Lower front teeth usually come in first
What are the hallmarks of Turner’s syndrome?
Hypogonadism: primary amenorrhea or early ovarian failure, failure to develop secondary sex characteristics (absence of breasts)
Short stature: with normal GH levels
Webbed neck, edema, low hairline, low set ears, widely spaced nipples
What are febrile sz?
In what age group are they seen most commonly?
How long do they last for?
Febrile seizures are convulsions that can happen during a fever
They affect kids 3 months to 6 years old, and are most common in toddlers 12–18 months old
The sz usually last for a few minutes and are accompanied by a fever above 100.4°F (38°C)
In neonates with Down Syndrome, which reflex is observed to be “poor”?
Moro reflex
