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Congenital Microcephaly
Kevin R. Moore, MD
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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

                                        1. Duerinckx S et al: The genetics of congenitally small brains. Semin Cell Dev Biol. 76:76-85, 2018
                                        2. Naveed M et al: Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH). Genet Res (Camb). 100:e7, 2018
                                        3. Zaqout S et al: Autosomal recessive primary microcephaly (MCPH): An update. Neuropediatrics. 48(3):135-42, 2017
                                        4. 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
                                        5. Moog U et al: Phenotypic and molecular insights into CASK-related disorders in males. Orphanet J Rare Dis. 10(1):44, 2015
                                        6. Çelikel E et al: Evaluation of 98 immunocompetent children with cytomegalovirus infection: importance of neurodevelopmental follow-up. Eur J Pediatr. ePub, 2015
                                        7. 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
                                        8. 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
                                        9. 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
                                        10. 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
                                        11. Barkovich AJ et al: A developmental and genetic classification for malformations of cortical development: update 2012. Brain. 135(Pt 5):1348-69, 2012
                                        12. Guven A et al: Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. Neurogenetics. 13(3):189-94, 2012
                                        13. 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
                                        14. Berger I: Prenatal microcephaly: can we be more accurate? J Child Neurol. 24(1):97-100, 2009
                                        15. 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
                                        16. Bond J et al: ASPM is a major determinant of cerebral cortical size. Nat Genet. 32(2):316-20, 2002
                                        17. 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
                                        18. Custer DA et al: Neurodevelopmental and neuroimaging correlates in nonsyndromal microcephalic children. J Dev Behav Pediatr. 21(1):12-8, 2000
                                        19. Barkovich AJ et al: Microlissencephaly: a heterogeneous malformation of cortical development. Neuropediatrics. 29(3):113-9, 1998
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        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

                                                                              1. Duerinckx S et al: The genetics of congenitally small brains. Semin Cell Dev Biol. 76:76-85, 2018
                                                                              2. Naveed M et al: Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH). Genet Res (Camb). 100:e7, 2018
                                                                              3. Zaqout S et al: Autosomal recessive primary microcephaly (MCPH): An update. Neuropediatrics. 48(3):135-42, 2017
                                                                              4. 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
                                                                              5. Moog U et al: Phenotypic and molecular insights into CASK-related disorders in males. Orphanet J Rare Dis. 10(1):44, 2015
                                                                              6. Çelikel E et al: Evaluation of 98 immunocompetent children with cytomegalovirus infection: importance of neurodevelopmental follow-up. Eur J Pediatr. ePub, 2015
                                                                              7. 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
                                                                              8. 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
                                                                              9. 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
                                                                              10. 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
                                                                              11. Barkovich AJ et al: A developmental and genetic classification for malformations of cortical development: update 2012. Brain. 135(Pt 5):1348-69, 2012
                                                                              12. Guven A et al: Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. Neurogenetics. 13(3):189-94, 2012
                                                                              13. 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
                                                                              14. Berger I: Prenatal microcephaly: can we be more accurate? J Child Neurol. 24(1):97-100, 2009
                                                                              15. 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
                                                                              16. Bond J et al: ASPM is a major determinant of cerebral cortical size. Nat Genet. 32(2):316-20, 2002
                                                                              17. 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
                                                                              18. Custer DA et al: Neurodevelopmental and neuroimaging correlates in nonsyndromal microcephalic children. J Dev Behav Pediatr. 21(1):12-8, 2000
                                                                              19. Barkovich AJ et al: Microlissencephaly: a heterogeneous malformation of cortical development. Neuropediatrics. 29(3):113-9, 1998