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Abnormal pons morphology

MedGen UID:
870459
Concept ID:
C4024905
Anatomical Abnormality
Synonym: Abnormality of the pons
 
HPO: HP:0007361

Definition

A structural abnormality of the pons. [from HPO]

Conditions with this feature

Multiple congenital anomalies-hypotonia-seizures syndrome 2
MedGen UID:
477139
Concept ID:
C3275508
Disease or Syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).

Professional guidelines

PubMed

Xia JL, Kadom N, Mansukhani SA, Couser NL, Lenhart PD
Am J Ophthalmol 2024 Mar;259:62-70. Epub 2023 Oct 29 doi: 10.1016/j.ajo.2023.10.021. PMID: 37907146
Krajden Haratz K, Oliveira Szejnfeld P, Govindaswamy M, Leibovitz Z, Gindes L, Severino M, Rossi A, Paladini D, Garcia Rodriguez R, Ben-Sira L, Borkowski Tillman T, Gupta R, Lotem G, Raz N, Hamamoto TENK, Kidron D, Arad A, Birnbaum R, Brussilov M, Pomar L, Vial Y, Leventer RJ, McGillivray G, Fink M, Krzeszowski W, Fernandes Moron A, Lev D, Tamarkin M, Shalev J, Har Toov J, Lerman-Sagie T, Malinger G
Ultrasound Obstet Gynecol 2021 Dec;58(6):864-874. doi: 10.1002/uog.23660. PMID: 33942916
Malinger G, Lev D, Lerman-Sagie T
Prenat Diagn 2009 Apr;29(4):372-80. doi: 10.1002/pd.2196. PMID: 19194867

Recent clinical studies

Etiology

Gafner M, Garel C, Leibovitz Z, Valence S, Krajden Haratz K, Oegema R, Mancini GMS, Heron D, Bueltmann E, Burglen L, Rodriguez D, Huisman TAGM, Lequin MH, Arad A, Kidron D, Muqary M, Gindes L, Lev D, Boltshauser E, Lerman-Sagie T
AJNR Am J Neuroradiol 2023 Mar;44(3):334-340. Epub 2023 Feb 23 doi: 10.3174/ajnr.A7805. PMID: 36822823Free PMC Article
Hagege R, Krajden Haratz K, Malinger G, Ben-Sira L, Leibovitz Z, Heron D, Burglen L, Birnbaum R, Valence S, Keren B, Blumkin L, Jouannic JM, Lerman-Sagie T, Garel C
Ultrasound Obstet Gynecol 2023 Jun;61(6):740-748. doi: 10.1002/uog.26140. PMID: 36484554
Marotta D, Hendricks BK, Shams-Amiri R, Watanabe G, Cohen-Gadol A
World Neurosurg 2022 Mar;159:348-361. doi: 10.1016/j.wneu.2021.08.120. PMID: 35255634
Arslan A, Ozsoy KM, Olguner SK, Acik V, Istemen I, Arslan B, Gezercan Y, Okten AI
Turk Neurosurg 2020;30(5):768-775. doi: 10.5137/1019-5149.JTN.31207-20.2. PMID: 32865224
Severino M, Allegri AE, Pistorio A, Roviglione B, Di Iorgi N, Maghnie M, Rossi A
AJNR Am J Neuroradiol 2014 Aug;35(8):1586-92. Epub 2014 Apr 24 doi: 10.3174/ajnr.A3959. PMID: 24763416Free PMC Article

Diagnosis

Hagege R, Krajden Haratz K, Malinger G, Ben-Sira L, Leibovitz Z, Heron D, Burglen L, Birnbaum R, Valence S, Keren B, Blumkin L, Jouannic JM, Lerman-Sagie T, Garel C
Ultrasound Obstet Gynecol 2023 Jun;61(6):740-748. doi: 10.1002/uog.26140. PMID: 36484554
Duffield C, Jocson J, Wootton-Gorges SL
Pediatr Radiol 2009 Dec;39(12):1357-60. Epub 2009 Aug 11 doi: 10.1007/s00247-009-1378-3. PMID: 19669743Free PMC Article
Malinger G, Lev D, Lerman-Sagie T
Prenat Diagn 2009 Apr;29(4):372-80. doi: 10.1002/pd.2196. PMID: 19194867
Kendall BE
J Inherit Metab Dis 1993;16(4):771-86. doi: 10.1007/BF00711909. PMID: 8412020
Williams IM, Dickinson P, Ramsay RJ, Thomas L
Aust J Ophthalmol 1982 Feb;10(1):19-25. PMID: 7103859

Therapy

Arslan A, Ozsoy KM, Olguner SK, Acik V, Istemen I, Arslan B, Gezercan Y, Okten AI
Turk Neurosurg 2020;30(5):768-775. doi: 10.5137/1019-5149.JTN.31207-20.2. PMID: 32865224
Squeglia LM, Tapert SF, Sullivan EV, Jacobus J, Meloy MJ, Rohlfing T, Pfefferbaum A
Am J Psychiatry 2015 Jun;172(6):531-42. Epub 2015 May 18 doi: 10.1176/appi.ajp.2015.14101249. PMID: 25982660Free PMC Article
Purnell JQ, Lahna DL, Samuels MH, Rooney WD, Hoffman WF
Int J Obes (Lond) 2014 Dec;38(12):1573-7. Epub 2014 Apr 14 doi: 10.1038/ijo.2014.57. PMID: 24727578
Jobe PC, Dailey JW, Wernicke JF
Crit Rev Neurobiol 1999;13(4):317-56. doi: 10.1615/critrevneurobiol.v13.i4.10. PMID: 11028680
Stiller JW, Weinberger DR
Psychiatr Clin North Am 1985 Jun;8(2):339-56. PMID: 3895196

Prognosis

Marotta D, Hendricks BK, Shams-Amiri R, Watanabe G, Cohen-Gadol A
World Neurosurg 2022 Mar;159:348-361. doi: 10.1016/j.wneu.2021.08.120. PMID: 35255634
Grijalva RM, Pham NTT, Huang Q, Martin PR, Ali F, Clark HM, Duffy JR, Utianski RL, Botha H, Machulda MM, Weigand SD, Ahlskog JE, Dickson DW, Josephs KA, Whitwell JL
Mov Disord 2022 Apr;37(4):702-712. Epub 2021 Dec 31 doi: 10.1002/mds.28901. PMID: 34970796Free PMC Article
Arslan A, Ozsoy KM, Olguner SK, Acik V, Istemen I, Arslan B, Gezercan Y, Okten AI
Turk Neurosurg 2020;30(5):768-775. doi: 10.5137/1019-5149.JTN.31207-20.2. PMID: 32865224
Zhao X, Qu Z, Tickner J, Xu J, Dai K, Zhang X
Cytokine Growth Factor Rev 2014 Feb;25(1):35-44. Epub 2013 Dec 25 doi: 10.1016/j.cytogfr.2013.12.010. PMID: 24411565
Field TS, Benavente OR
Rev Neurol Dis 2011;8(1-2):30-8. PMID: 21769069

Clinical prediction guides

Hagege R, Krajden Haratz K, Malinger G, Ben-Sira L, Leibovitz Z, Heron D, Burglen L, Birnbaum R, Valence S, Keren B, Blumkin L, Jouannic JM, Lerman-Sagie T, Garel C
Ultrasound Obstet Gynecol 2023 Jun;61(6):740-748. doi: 10.1002/uog.26140. PMID: 36484554
Grijalva RM, Pham NTT, Huang Q, Martin PR, Ali F, Clark HM, Duffy JR, Utianski RL, Botha H, Machulda MM, Weigand SD, Ahlskog JE, Dickson DW, Josephs KA, Whitwell JL
Mov Disord 2022 Apr;37(4):702-712. Epub 2021 Dec 31 doi: 10.1002/mds.28901. PMID: 34970796Free PMC Article
Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L; CAUSES Study, van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estévez R, Jentsch TJ, Pusch M, Agrawal PB
Am J Hum Genet 2021 Aug 5;108(8):1450-1465. Epub 2021 Jun 28 doi: 10.1016/j.ajhg.2021.06.003. PMID: 34186028Free PMC Article
Arslan A, Ozsoy KM, Olguner SK, Acik V, Istemen I, Arslan B, Gezercan Y, Okten AI
Turk Neurosurg 2020;30(5):768-775. doi: 10.5137/1019-5149.JTN.31207-20.2. PMID: 32865224
Mascalchi M, Vella A
Int J Mol Sci 2020 Feb 4;21(3) doi: 10.3390/ijms21031020. PMID: 32033120Free PMC Article

Recent systematic reviews

Zakaria RBM, Malta M, Pelletier F, Addour-Boudrahem N, Pinchefsky E, Martin CS, Srour M
Cerebellum 2024 Apr;23(2):418-430. Epub 2023 Mar 27 doi: 10.1007/s12311-023-01544-2. PMID: 36971923
Cai M, Liu J, Wang X, Ma J, Ma L, Liu M, Zhao Y, Wang H, Fu D, Wang W, Xu Q, Guo L, Liu F
Hum Brain Mapp 2023 Feb 1;44(2):571-584. Epub 2022 Sep 21 doi: 10.1002/hbm.26085. PMID: 36129066Free PMC Article
Klaes A, Reckziegel E, Franca MC Jr, Rezende TJ, Vedolin LM, Jardim LB, Saute JA
AJNR Am J Neuroradiol 2016 Aug;37(8):1405-12. Epub 2016 May 12 doi: 10.3174/ajnr.A4760. PMID: 27173364Free PMC Article
Tir M, Delmaire C, Besson P, Defebvre L
Rev Neurol (Paris) 2014 Apr;170(4):266-76. Epub 2014 Mar 20 doi: 10.1016/j.neurol.2013.10.013. PMID: 24656811

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