link
Bookmarks
Microcephaly
Gary L. Hedlund, DO
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Log inSubscribe
0
7
3
0

KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Microcephaly (MCPH)
              • Synonyms

                • Microcephaly with simplified gyral pattern (MSG)
              • Definitions

                • Primary (genetic): Mendelian inheritance or associated with genetic syndrome
                  • MSG: Head circumference > 3 standard deviations (SDs) below mean, simplified gyri, shallow sulci
                  • Microlissencephaly: Head circumference > 3 SDs below mean, pachy- or agyria
                • Secondary (nongenetic): Noxious agent affecting fetal, neonatal, or infant brain growth

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • Ultrasonographic Findings

                        • 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. 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
                                                2. Moog U et al: Phenotypic and molecular insights into CASK-related disorders in males. Orphanet J Rare Dis. 10(1):44, 2015
                                                3. Çelikel E et al: Evaluation of 98 immunocompetent children with cytomegalovirus infection: importance of neurodevelopmental follow-up. Eur J Pediatr. ePub, 2015
                                                4. 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
                                                5. 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. Epub ahead of print, 2014
                                                6. 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
                                                7. 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
                                                8. Barkovich AJ et al: A developmental and genetic classification for malformations of cortical development: update 2012. Brain. 135(Pt 5):1348-69, 2012
                                                9. Guven A et al: Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. Neurogenetics. 13(3):189-94, 2012
                                                10. 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
                                                11. Berger I: Prenatal microcephaly: can we be more accurate? J Child Neurol. 24(1):97-100, 2009
                                                12. 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
                                                13. Bond J et al: ASPM is a major determinant of cerebral cortical size. Nat Genet. 32(2):316-20, 2002
                                                14. 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
                                                15. Custer DA et al: Neurodevelopmental and neuroimaging correlates in nonsyndromal microcephalic children. J Dev Behav Pediatr. 21(1):12-8, 2000
                                                16. Barkovich AJ et al: Microlissencephaly: a heterogeneous malformation of cortical development. Neuropediatrics. 29(3):113-9, 1998
                                                Related Anatomy
                                                Loading...
                                                Related Differential Diagnoses
                                                Loading...
                                                References
                                                Tables

                                                Tables

                                                KEY FACTS

                                                • Terminology

                                                  • Imaging

                                                    • Top Differential Diagnoses

                                                      • Pathology

                                                        • Clinical Issues

                                                          • Diagnostic Checklist

                                                            TERMINOLOGY

                                                            • Abbreviations

                                                              • Microcephaly (MCPH)
                                                            • Synonyms

                                                              • Microcephaly with simplified gyral pattern (MSG)
                                                            • Definitions

                                                              • Primary (genetic): Mendelian inheritance or associated with genetic syndrome
                                                                • MSG: Head circumference > 3 standard deviations (SDs) below mean, simplified gyri, shallow sulci
                                                                • Microlissencephaly: Head circumference > 3 SDs below mean, pachy- or agyria
                                                              • Secondary (nongenetic): Noxious agent affecting fetal, neonatal, or infant brain growth

                                                            IMAGING

                                                            • General Features

                                                              • Radiographic Findings

                                                                • CT Findings

                                                                  • MR Findings

                                                                    • Ultrasonographic Findings

                                                                      • 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. 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
                                                                                              2. Moog U et al: Phenotypic and molecular insights into CASK-related disorders in males. Orphanet J Rare Dis. 10(1):44, 2015
                                                                                              3. Çelikel E et al: Evaluation of 98 immunocompetent children with cytomegalovirus infection: importance of neurodevelopmental follow-up. Eur J Pediatr. ePub, 2015
                                                                                              4. 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
                                                                                              5. 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. Epub ahead of print, 2014
                                                                                              6. 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
                                                                                              7. 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
                                                                                              8. Barkovich AJ et al: A developmental and genetic classification for malformations of cortical development: update 2012. Brain. 135(Pt 5):1348-69, 2012
                                                                                              9. Guven A et al: Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. Neurogenetics. 13(3):189-94, 2012
                                                                                              10. 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
                                                                                              11. Berger I: Prenatal microcephaly: can we be more accurate? J Child Neurol. 24(1):97-100, 2009
                                                                                              12. 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
                                                                                              13. Bond J et al: ASPM is a major determinant of cerebral cortical size. Nat Genet. 32(2):316-20, 2002
                                                                                              14. 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
                                                                                              15. Custer DA et al: Neurodevelopmental and neuroimaging correlates in nonsyndromal microcephalic children. J Dev Behav Pediatr. 21(1):12-8, 2000
                                                                                              16. Barkovich AJ et al: Microlissencephaly: a heterogeneous malformation of cortical development. Neuropediatrics. 29(3):113-9, 1998