microcephaly
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Introduction
abnormally small head; skull with capacity below 1350 mL.
Etiology
Epidemiology
- 1761 case in newborns including 19 fatalities in Brazil 2015[4]
- mosquito-borne Zika virus is being investigated[4]
Pathology
- brain weight is markedly diminished
- cerebral cortex is disproportionately small
- gyral pattern is relatively well preserved
- no major abnormality in cortical architecture
Genetics
- associated with defect in ASPM (autosomal recessive)
- associated with defects in MCPH1 gene
- type 4 associated with defects in CEP152[2]
- type 4 associated with defects in CENPJ[3]
- type 12 associated with defects in CDK6
Clinical manifestations
- head circumference measured 1-7 days after birth > 2 standard deviations below the mean is microcephaly; > 3 standard deviations below the mean is severe microcephaly
- primary microcephaly is characterized by the absence of other syndromic features or neurological deficits
Radiology
- neuroimaging, cranial ultrasound if severe microcephaly[5]
- intracranial calcifications in Zika-affected infants
More general terms
More specific terms
References
- ↑ Stedman's Medical Dictionary, 26th ed. Williams & Wilkins.
- ↑ 2.0 2.1 OMIM https://mirror.omim.org/entry/604321
- ↑ 3.0 3.1 OMIM https://mirror.omim.org/entry/608393
- ↑ 4.0 4.1 4.2 World Health Organization (WHO) Disease Outbreak News. Dec 14, 2015 Microcephaly - Brazil http://www.who.int/csr/don/15-december-2015-microcephaly-brazil/en/
- ↑ 5.0 5.1 World Health Organization (WHO). Interim guidance. Feb.25 2016 Assessment of infants with microcephaly in the context of Zika virus. http://apps.who.int/iris/bitstream/10665/204475/1/WHO_ZIKV_MOC_16.3_eng.pdf?ua=1
- ↑ OMIM https://mirror.omim.org/entry/616080
- ↑ NINDS Microcephaly Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Microcephaly-Information-Page