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Midline brain calcifications

MedGen UID:
383696
Concept ID:
C1855487
Finding
HPO: HP:0007045

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMidline brain calcifications

Conditions with this feature

Miller Dieker syndrome
MedGen UID:
78538
Concept ID:
C0265219
Disease or Syndrome
PAFAH1B1-related lissencephaly/subcortical band heterotopia (SBH) comprises a spectrum of severity. Affected newborns typically have mild-to-moderate hypotonia, feeding difficulties, and poor head control. During the first years, neurologic examination typically demonstrates poor visual tracking and response to sounds, axial hypotonia, and mild distal spasticity that can transition over time to more severe spasticity. Seizures occur in more than 90% of individuals with lissencephaly and often include infantile spasms. Seizures are often drug resistant, but even with good seizure control, the best developmental level achieved (excluding the few individuals with partial lissencephaly) is the equivalent of about age three to five months. In individuals with PAFAH1B1-related lissencephaly/SBH, developmental delay ranges from mild to severe. Other findings in PAFAH1B1-related lissencephaly/SBH include feeding issues and aspiration (which may result in need for gastrostomy tube placement), progressive microcephaly, and occasional developmental regression.

Professional guidelines

PubMed

Mortini P, Gagliardi F, Boari N, Losa M
Crit Rev Oncol Hematol 2013 Dec;88(3):514-29. Epub 2013 Aug 7 doi: 10.1016/j.critrevonc.2013.07.013. PMID: 23932582
De Catte L, De Keersmaeker B, Claus F
Paediatr Drugs 2012 Jun 1;14(3):143-55. doi: 10.2165/11597030-000000000-00000. PMID: 22242843
Sherer DM, Onyeije CI
Am J Perinatol 1998 May;15(5):319-28. doi: 10.1055/s-2007-993951. PMID: 9643639

Recent clinical studies

Etiology

Di Mascio D, Rizzo G, Khalil A, D'Antonio F; ENSO Working Group
Ultrasound Obstet Gynecol 2023 Jan;61(1):67-73. doi: 10.1002/uog.26054. PMID: 36056700
Gheban BA, Colosi HA, Gheban-Rosca IA, Pop B, Domșa AT, Georgiu C, Gheban D, Crișan D, Crișan M
Medicina (Kaunas) 2021 Apr 15;57(4) doi: 10.3390/medicina57040383. PMID: 33921100Free PMC Article
Gao L, Han F, Jin Y, Xiong J, Lv Y, Yao Z, Zhang J
Clin Radiol 2018 Mar;73(3):275-282. Epub 2017 Nov 13 doi: 10.1016/j.crad.2017.10.011. PMID: 29146003
Romero-Rojas AE, Diaz-Perez JA, Ariza-Serrano LM, Amaro D, Lozano-Castillo A
Neuroradiol J 2013 Dec;26(6):639-48. Epub 2013 Dec 18 doi: 10.1177/197140091302600606. PMID: 24355182Free PMC Article
Mortini P, Gagliardi F, Boari N, Losa M
Crit Rev Oncol Hematol 2013 Dec;88(3):514-29. Epub 2013 Aug 7 doi: 10.1016/j.critrevonc.2013.07.013. PMID: 23932582

Diagnosis

Auffret L, Ajlil Y, Tauziède-Espariat A, Kergrohen T, Puiseux C, Riffaud L, Blouin P, Bertozzi AI, Leblond P, Blomgren K, Froelich S, Picca A, Touat M, Sanson M, Beccaria K, Blauwblomme T, Dangouloff-Ros V, Boddaert N, Varlet P, Debily MA, Grill J, Castel D
Acta Neuropathol 2023 Dec 8;147(1):2. doi: 10.1007/s00401-023-02651-4. PMID: 38066305Free PMC Article
Gao L, Han F, Jin Y, Xiong J, Lv Y, Yao Z, Zhang J
Clin Radiol 2018 Mar;73(3):275-282. Epub 2017 Nov 13 doi: 10.1016/j.crad.2017.10.011. PMID: 29146003
Mortini P, Gagliardi F, Boari N, Losa M
Crit Rev Oncol Hematol 2013 Dec;88(3):514-29. Epub 2013 Aug 7 doi: 10.1016/j.critrevonc.2013.07.013. PMID: 23932582
De Catte L, De Keersmaeker B, Claus F
Paediatr Drugs 2012 Jun 1;14(3):143-55. doi: 10.2165/11597030-000000000-00000. PMID: 22242843
Carranza-Romero C, Armario-Hita JC, Fernandez-Vozmediano JM
Pediatr Dermatol 2012 Jul-Aug;29(4):490-4. Epub 2011 Sep 9 doi: 10.1111/j.1525-1470.2011.01526.x. PMID: 21906151

Therapy

Yoshida M, Makino Y, Hoshioka Y, Chiba F, Inokuchi G, Torimitsu S, Yamaguchi R, Motomura A, Abe H, Yajima D, Iwase H
Forensic Sci Med Pathol 2020 Dec;16(4):577-585. Epub 2020 Aug 27 doi: 10.1007/s12024-020-00294-5. PMID: 32852692

Prognosis

Auffret L, Ajlil Y, Tauziède-Espariat A, Kergrohen T, Puiseux C, Riffaud L, Blouin P, Bertozzi AI, Leblond P, Blomgren K, Froelich S, Picca A, Touat M, Sanson M, Beccaria K, Blauwblomme T, Dangouloff-Ros V, Boddaert N, Varlet P, Debily MA, Grill J, Castel D
Acta Neuropathol 2023 Dec 8;147(1):2. doi: 10.1007/s00401-023-02651-4. PMID: 38066305Free PMC Article
Sasaki S, Tomomasa R, Nobusawa S, Hirato J, Uchiyama T, Boku E, Miyasaka T, Hirose T, Ohbayashi C
Brain Tumor Pathol 2019 Oct;36(4):169-173. Epub 2019 Jul 26 doi: 10.1007/s10014-019-00349-8. PMID: 31350684
Mortini P, Gagliardi F, Boari N, Losa M
Crit Rev Oncol Hematol 2013 Dec;88(3):514-29. Epub 2013 Aug 7 doi: 10.1016/j.critrevonc.2013.07.013. PMID: 23932582
Del Brutto OH, Del Brutto VJ
Clin Neurol Neurosurg 2013 May;115(5):507-11. Epub 2013 Jan 22 doi: 10.1016/j.clineuro.2012.12.026. PMID: 23351839
De Catte L, De Keersmaeker B, Claus F
Paediatr Drugs 2012 Jun 1;14(3):143-55. doi: 10.2165/11597030-000000000-00000. PMID: 22242843

Clinical prediction guides

Gheban BA, Colosi HA, Gheban-Roșca IA, Georgiu C, Gheban D, Crișan D, Crișan M
Anat Histol Embryol 2023 Jan;52(1):12-20. Epub 2022 Jun 28 doi: 10.1111/ahe.12828. PMID: 35762404
Gao L, Han F, Jin Y, Xiong J, Lv Y, Yao Z, Zhang J
Clin Radiol 2018 Mar;73(3):275-282. Epub 2017 Nov 13 doi: 10.1016/j.crad.2017.10.011. PMID: 29146003
Wei XH, Shen HC, Tang SX, Gao CH, Ren JL, Ai L, Dai JP
Medicine (Baltimore) 2016 Dec;95(52):e5543. doi: 10.1097/MD.0000000000005543. PMID: 28033250Free PMC Article
Romero-Rojas AE, Diaz-Perez JA, Ariza-Serrano LM, Amaro D, Lozano-Castillo A
Neuroradiol J 2013 Dec;26(6):639-48. Epub 2013 Dec 18 doi: 10.1177/197140091302600606. PMID: 24355182Free PMC Article
Mortini P, Gagliardi F, Boari N, Losa M
Crit Rev Oncol Hematol 2013 Dec;88(3):514-29. Epub 2013 Aug 7 doi: 10.1016/j.critrevonc.2013.07.013. PMID: 23932582

Recent systematic reviews

Donofrio CA, Bertazzoni G, Riccio L, Pinacoli A, Pianta L, Generali D, Ungari M, Servadei F, Roncaroli F, Fioravanti A
World Neurosurg 2024 Feb;182:83-90. Epub 2023 Nov 22 doi: 10.1016/j.wneu.2023.11.057. PMID: 37995988

Supplemental Content

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    Clinical resources

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