Neurology: Peds I & II Flashcards
What is the APGAR score?
Appearance Pulse Grimace Activity Respirations
Taken at 1 minute and 5 minutes after delivery to generally assess baby’s health
When taking a history on a pediatric patient in neurology, what is an important component that must be obtained in addition to the general history?
Birth History
What is the Gower Sign?
Characteristic method of rising from a seated to a standing position. Indicative of lower extremity weakness and mainly associated with muscular dystrophies.
What type of muscle tone is predominant in infants?
Flexor tone
What can a frog leg position indicate in infants?
Hypotonia
What are the developmental milestones for: 2 months 4 months 5 months 6 months 12 months
2: social smile, recognizes parents
4: rolls front to back
5: rolls back to front
6: sits unsupported; likes crapping in diaper; recognizes strangers
12: walks alone, uses 2 words other than mama/dada
What can a lack of habituation (diminished response to continuous stimuli) or lack of consolability indicate in infants?
Can indicate higher cortical dysfunction
What is considered a premature birth?
<25 weeks is extreme prematurity)
What is neonatal encephalopathy?
General term meaning a CNS dysfunction in the newborn period.
(asphyxia, hypoxia, perinatal stroke, hemorrhage, infection, maternal toxins etc.)
What is the only neuroprotective therapy for Neonatal Encephalopathy?
Therapeutic Hypothermia
What is the major cause of Perinatal asphyxia?
Umbilical cord problems during delivery
What is the best indicator for the site of Neonatal Intracranial Hemorrhage and which sites are most common?
Gestational Age is best indicator:
full term or large baby - subdural hematoma
full term - subarachnoid hemorrhage
<32 weeks - parenchymal or intraventricular
What are the 4 classifications of an Intraventricular Hemorrhage (IVH)?
Type I: confined to the matrix (source of neurons and glial cells during development)
Type II: extends to lateral ventricle
Type III: enlarges ventricles
Type IV: in brain parenchyma
What are symptoms of each type of IVH?
- asymptomatic
- irritability, lethargy
3&4. apnea, bradycardia, opisthotonus, etc.
What is the best way to diagnose IVH?
Ultrasound
-routinely used in premature infants
What are the major characteristics of neonatal seizures?
Unifocal or multifocal jerking, rhythmic eye deviation, tonic posturing
(difficult to localize even though they are not generalized, which is due to the immature neurons not firing in coordination yet)
What is the treatment for Neonatal Seizures?
Often they have some underlying cause which, if treated, can be resolved.
Drugs: phenobarbital, phenytoin, pyridoxine
What are the 3 major conditions that can lead to Floppy Infant Syndrome?
- Hypoxia-ischemia of brain or spinal cord
- Spinal Muscular Atrophy
- Dysgenetic Syndromes
What are the two types of spinal muscular atrophy and what gene is mutated that can lead to these disorders?
- Werdnig Hoffman Disease
- Kugelberg Welander Disease
Survivor motor neuron gene mutation
Name and describe the pathology associated with Cerebral palsy caused by premature birth.
Periventricular Leukomalacia
- necrosis of white matter near the lateral ventricles of the brain
- individuals often develop motor and developmental delays often leading to cerebral palsy
What treatment can reduce chances of cerebral palsy in women with preterm labor?
Magnesium Sulfate
What is the definition of Sudden Infant Death Syndrome?
Sudden death of an infant younger than 1 year, which remains unexplained after a thorough investigation.
What has been the major cause in the reduction of cases of SIDS?
The “Back” to sleep program which encourages infants to sleep supine rather than prone.
What is Aicardi Syndrome?
Agenesis of the corpus callosum:
- results in mental retardation, infantile spasms, chorioretinopathy
- more common in females
What are craniosynostoses?
Which condition is most common?
Premature fusions of the sutures in the skull of children.
Scaphocephaly is most common: fusion of sagittal suture early
What is the most severe craniosynostosis?
Kleeblattschadel (cloverleaf): multiple sutures fuse leading to hydrocephalus and mental retardation
What is the leading hypothesis for the pathogenesis of ADHD?
Imbalance in catecholamine metabolism due to genetics, environment, or prenatal exposure to tobacco.
What are some requirements for the diagnosis of ADHD?
- present in more than one setting (ex. school and home)
- persist for 6 months and be detected before age 7
- not be caused by other mental disorders
Name two medications used to treat ADHD and the mechanism of action of each.
Both are NE re-uptake inhibitors
- Methylphenidate (Ritalin)
- Atomoxetine (if there is substance abuse in the history)
What 3 domains are impaired in children with autism?
- Socialization
- Communication
- Behavior
What are two major signs that might cause concern for parents indicating autism?
- Infrequent cry
2. child doesn’t seek to be held
What is Asperger Syndrome?
Similar to autism, though patients have better verbal expression and higher levels of cognitive function.
What is Pervasive Developmental Disorder NOS?
NOS = not otherwise specified
just refers to a group of disorders including autism but individuals with non-specified characteristics of the disorders in this group are just considered NOS.
What is the pathogenesis of Rett Syndrome?
Mutation in MECP 2 gene on X chromosome.
Abnormal methylcytosine binding protein leads to deceleration of head growth (opposite of autism w/ head growth), hand movements and dementia
What IQ is considered a mild intellectual disability (MR)?
50-70.
this is the majority of people with this condition
What two components are crucial to assess when examining a child suspected of having an ID?
Vision and hearing
What is the genetic cause and differentiating characteristic of Fragile X syndrome?
Trinucleotide expansion
Macroorchidism in males
On which chromosomes are the two NF genes that can lead to neurofibromatosis if mutated?
NF-1: chromosome 17
NF-2: chromosome 22
What condition is associated with Neurofibromatosis type 2?
Bilateral Acoustic neuromas
What is Sturge Weber syndrome?
A trigeminocranial angiomatosis with cerebral calcification.
- facial nicholas flammel (nevus flammeus)
- pts. experience seizures, mental retardation, contralateral hemiparesis and glaucoma
What is the triad associated with Tuberous Sclerosis?
- ID
- Epilepsy
- Skin Lesions
(hamartin and tuberin gene mutation)
Enzyme deficient in Phenylketonuria.
Phenylalanine hydroxylase
Treatment for PKU.
Dietary restriction of Phe.
Deficiency and treatment in Maple Syrup Urine Disease.
Can’t metabolize branched chain amino acids (Val, Leu, Ile)
Treat with restriction of BCAA in diet
Enzyme deficient in Homocystinuria and two conditions associated with this disease.
Def. in cystathionine synthase
Risk of:
- ectopia lentis (displaced lens)
- Stroke due to increased risk of multiple thrombotic events
Enzyme deficient in Lesch-Nyhan Syndrome.
Hypoxanthine-guanine phosphoribosyltransferase (HPRT)
Clinical presentation of Lesch-Nyhan
Hyperuricemia, mental retardation, spasticity, self-mutilation, eventual death by chronic renal failure
Enzyme deficient and major clinical characteristic of Tay Sachs disease.
Hexosaminidase A def.
Cherry Red Macula
Enzyme deficient and clinical manifestation of Neimann-Pick Disease
Sphingomyelinase def.
Hepatosplenomegaly, developmental regression, dementia, hypotonia
Mineral that accumulates in Wilson Disease
Copper
4 major clinical features of Wilson Disease.
- Liver cirrhosis, basal nuclei degeneration
- Jaundice
- Wing-beating tremor
- Kayser-Fleischer Ring in eye
Treatment for Wilson Disease.
- remove copper and prevent accumulation
- oral zinc: induces formation of intestinal metallothionein which binds copper and prevents its absorption into the blood
