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CC May 2016 Microcephaly of infants

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echoecho's version from 2016-07-17 19:22

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Question Answer
How is Microcephaly USUALLY defined?As a head circumference (HC) that is 2 standard deviations BELOW the mean for age and gender
Some prefer to differentiate it further.. What do they define mild or borderline Microcephaly? Severe Microcephaly?1) HCs 2-3 SD below th mean 2) HCs > 3 SD below the mean
List 4 additional classifications?1) timing of onset - (HC is small at birth) vs. secondary or acquired (HC is normal at birth. It then growth slows). 2) relationship to other growth parameters - symmetrical (proportional) or asymmetric (disproportional) e) etiology - genetic vs. environmental. 4) association with other anomalies - syndromic or isolated
When evaluating Microcephaly, what is important to take?An accurate measurement of HC
Describe how to measure HC?Using a tape measure that does not stretch, encircle the head at the most prominent part of the occupation and 1-2 cm ABOVE the glabella anteriorly
Which charts are recommended by the CDC for children up to 2 years? Children older than 2 y.o.?1) WHO 2) CDC
For children with confirmed Microcephaly, it is important to identify what if possible?Etiology
In a recent retrospective study of 680 children with microcephaly (mean age at do of 7-8 months), a cause was found in _____ % of cases?59
List two categories for etiologies of Microcephaly?1) genetic 2) acquired
List two categories under genetic microcephaly?1) isolated. 2) syndromic
List the primary and secondary causes of genetic (ISOLATED type)?1) primary - autosomal dominant and autosomal recessive microcephaly, X-microcephaly. 2) secondary - inborn errors of metabolism (mitochondrial disorders)
List the primary and secondary causes of genetic (SYNDROMIC type)?1) primary - trisomies 13, 18, and 21; Cornelia De Lange syndrome; Smith-Lemli-Opitz syndrome 2) secondary - Rett syndrome , ataxia-telangiectasia
List the primary and secondary causes of acquired (DISRUPTIVE INJURIES type)?1) primary - death of monozygotic twin, ischemic or hemorrhagic stroke. 2) secondary - traumatic brain injury, hypoxia-ischemic encephalopathy, hemorrhagic and ischemic stroke
List the primary and secondary causes of acquired (INFECTIOUS type) of etiologies of microcephaly?1) primary - TORCHES (toxoplasmosis, rubella, cytomegalovirus, herpes simplex, syphillis), HIV, Zika virus (the CDC currently states that there is possible association of Zika virus with microcephaly). 2) secondary - meningitis, encephalitis
List the primary and secondary causes of acquired (TERATOGENS type) of etiologies of microcephaly?1) primary - alcohol, phenytoin, radiation, poorly controlled diabetes mellitus. 2) secondary- lead poisoning, chronic renal failure
List the primary and secondary causes of acquired (DEPRIVATION type) of etiologies of microcephaly?1) primary - maternal (hypothyroidism, malnutrition, folate deficiency, placental insufficiency) 2) secondary - hypothyroidism, anemia, congestive heart failure, malnutrition
Microcephaly is a ______ and not a diagnosis?Sign
*** Initial evaluation for all children includes what? Why?1) a physical exam 2) to identify other possible abnormalities and assessment of the family for any specific diseases or syndromes
*** In infants with proportionate microcephaly, who have no neurological signs or symptoms or family hx of childhood neurologic disease, what is the treatment? What testing should be considered if there is worsening of the microcephaly or development of neurologic signs and symptoms?1) Observation. 2) MRI, metabolic or genetic testing
*** What imaging study should infants with disproportionate microcephaly have? MRI brain
*** If physical findings suggest a certain disease or syndrome, what testing for that condition should be undertaken?Specific testing
When evaluating acquired microcephaly, the presence of what two conditions should warrant an MRI?1) severe microcephaly 2) neurologic signs and symptoms
For all children who have an MRI showing normal or nonspecific findings, what should be considered?Further testing (genetic, metabolic, infectious, endocrine)
*** SUMMARY = List the two categories of microcephaly?1) primary (congenital)2) secondary (acquired)
*** SUMMARY = Severe microcephaly or neurologic signs or symptoms should prompt imaging of what?The brain
*** SUMMARY= List the etiologies of microcephaly?
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