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Imaging
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Pathology
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Diagnostic Checklist
TERMINOLOGY
Abbreviations
- Microcephaly primary hereditary (MCPH)
- Microcephaly with simplified gyral pattern (MSG)
- Occipitofrontal circumference (OFC)
Definitions
- Microcephaly: Abnormally small head size
- Micrencephaly: Abnormally small brain size
- Because head growth is driven by brain growth, microcephaly usually implies microencephaly, but microencephaly does not always indicate microcephaly
- Microcephaly is sign, not diagnosis, so defined with qualifying terms
- Borderline microcephaly: OFC 2-3 standard deviations (SD) below mean for age, sex, and gestation
- Moderate microcephaly: OFC 3-5 SD below mean for age, sex, and gestation
- Severe microcephaly: OFC ≥ 5 SD below mean for age, sex, and gestation
- MSG: Simplified gyri, shallow sulci, head circumference > 3 SD below mean
- Microlissencephaly: Pachy- or agyria, head circumference > 3 SD below mean
IMAGING
General Features
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Duerinckx S et al: The genetics of congenitally small brains. Semin Cell Dev Biol. 76:76-85, 2018
- Naveed M et al: Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH). Genet Res (Camb). 100:e7, 2018
- Zaqout S et al: Autosomal recessive primary microcephaly (MCPH): An update. Neuropediatrics. 48(3):135-42, 2017
- Andrews T et al: Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders. PLoS Genet. 11(3):e1005012, 2015
- Moog U et al: Phenotypic and molecular insights into CASK-related disorders in males. Orphanet J Rare Dis. 10(1):44, 2015
- Çelikel E et al: Evaluation of 98 immunocompetent children with cytomegalovirus infection: importance of neurodevelopmental follow-up. Eur J Pediatr. ePub, 2015
- Adachi Y et al: Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients. Neuropediatrics. 45(2):93-101, 2014
- von der Hagen M et al: Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature. Dev Med Child Neurol. 56(8):732-41, 2014
- Poirier K et al: Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet. 2013 Jun;45(6):639-47. Epub 2013 Apr 21. Erratum in: Nat Genet. 45(8):962, 2013
- Abdel-Salam GM et al: Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome. Am J Med Genet A. 158A(8):1823-31, 2012
- Barkovich AJ et al: A developmental and genetic classification for malformations of cortical development: update 2012. Brain. 135(Pt 5):1348-69, 2012
- Guven A et al: Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. Neurogenetics. 13(3):189-94, 2012
- Adachi Y et al: Congenital microcephaly with a simplified gyral pattern: associated findings and their significance. AJNR Am J Neuroradiol. 32(6):1123-9, 2011
- Berger I: Prenatal microcephaly: can we be more accurate? J Child Neurol. 24(1):97-100, 2009
- Abdel-Salam GM et al: Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome. Am J Med Genet A. 146A(22):2929-36, 2008
- Bond J et al: ASPM is a major determinant of cerebral cortical size. Nat Genet. 32(2):316-20, 2002
- Jackson AP et al: Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet. 71(1):136-42, 2002
- Custer DA et al: Neurodevelopmental and neuroimaging correlates in nonsyndromal microcephalic children. J Dev Behav Pediatr. 21(1):12-8, 2000
- Barkovich AJ et al: Microlissencephaly: a heterogeneous malformation of cortical development. Neuropediatrics. 29(3):113-9, 1998
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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Abbreviations
- Microcephaly primary hereditary (MCPH)
- Microcephaly with simplified gyral pattern (MSG)
- Occipitofrontal circumference (OFC)
Definitions
- Microcephaly: Abnormally small head size
- Micrencephaly: Abnormally small brain size
- Because head growth is driven by brain growth, microcephaly usually implies microencephaly, but microencephaly does not always indicate microcephaly
- Microcephaly is sign, not diagnosis, so defined with qualifying terms
- Borderline microcephaly: OFC 2-3 standard deviations (SD) below mean for age, sex, and gestation
- Moderate microcephaly: OFC 3-5 SD below mean for age, sex, and gestation
- Severe microcephaly: OFC ≥ 5 SD below mean for age, sex, and gestation
- MSG: Simplified gyri, shallow sulci, head circumference > 3 SD below mean
- Microlissencephaly: Pachy- or agyria, head circumference > 3 SD below mean
IMAGING
General Features
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Duerinckx S et al: The genetics of congenitally small brains. Semin Cell Dev Biol. 76:76-85, 2018
- Naveed M et al: Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH). Genet Res (Camb). 100:e7, 2018
- Zaqout S et al: Autosomal recessive primary microcephaly (MCPH): An update. Neuropediatrics. 48(3):135-42, 2017
- Andrews T et al: Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders. PLoS Genet. 11(3):e1005012, 2015
- Moog U et al: Phenotypic and molecular insights into CASK-related disorders in males. Orphanet J Rare Dis. 10(1):44, 2015
- Çelikel E et al: Evaluation of 98 immunocompetent children with cytomegalovirus infection: importance of neurodevelopmental follow-up. Eur J Pediatr. ePub, 2015
- Adachi Y et al: Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients. Neuropediatrics. 45(2):93-101, 2014
- von der Hagen M et al: Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature. Dev Med Child Neurol. 56(8):732-41, 2014
- Poirier K et al: Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet. 2013 Jun;45(6):639-47. Epub 2013 Apr 21. Erratum in: Nat Genet. 45(8):962, 2013
- Abdel-Salam GM et al: Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome. Am J Med Genet A. 158A(8):1823-31, 2012
- Barkovich AJ et al: A developmental and genetic classification for malformations of cortical development: update 2012. Brain. 135(Pt 5):1348-69, 2012
- Guven A et al: Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. Neurogenetics. 13(3):189-94, 2012
- Adachi Y et al: Congenital microcephaly with a simplified gyral pattern: associated findings and their significance. AJNR Am J Neuroradiol. 32(6):1123-9, 2011
- Berger I: Prenatal microcephaly: can we be more accurate? J Child Neurol. 24(1):97-100, 2009
- Abdel-Salam GM et al: Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome. Am J Med Genet A. 146A(22):2929-36, 2008
- Bond J et al: ASPM is a major determinant of cerebral cortical size. Nat Genet. 32(2):316-20, 2002
- Jackson AP et al: Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet. 71(1):136-42, 2002
- Custer DA et al: Neurodevelopmental and neuroimaging correlates in nonsyndromal microcephalic children. J Dev Behav Pediatr. 21(1):12-8, 2000
- Barkovich AJ et al: Microlissencephaly: a heterogeneous malformation of cortical development. Neuropediatrics. 29(3):113-9, 1998
