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Abnormal brainstem morphology

MedGen UID:
342543
Concept ID:
C1850601
Anatomical Abnormality; Finding
Synonym: Brainstem abnormalities
 
HPO: HP:0002363

Definition

An anomaly of the brainstem. [from HPO]

Conditions with this feature

X-linked sideroblastic anemia with ataxia
MedGen UID:
335078
Concept ID:
C1845028
Disease or Syndrome
X-linked sideroblastic anemia and ataxia is a rare condition characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition occurs only in males.\n\nSideroblastic anemia results when developing red blood cells called erythroblasts do not make enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia and ataxia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name. Unlike other forms of sideroblastic anemia, X-linked sideroblastic anemia and ataxia does not cause a potentially dangerous buildup of iron in the body. The anemia is typically mild and usually does not cause any symptoms.\n\nX-linked sideroblastic anemia and ataxia causes problems with balance and coordination that appear early in life. The ataxia primarily affects the trunk, making it difficult to sit, stand, and walk unassisted. In addition to ataxia, people with this condition often have trouble coordinating movements that involve judging distance or scale (dysmetria) and find it difficult to make rapid, alternating movements (dysdiadochokinesis). Mild speech difficulties (dysarthria), tremor, and abnormal eye movements have also been reported in some affected individuals.

Professional guidelines

PubMed

Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G
J Mother Child 2022 Mar 1;26(1):118-123. Epub 2023 Feb 22 doi: 10.34763/jmotherandchild.20222601.d-22-00034. PMID: 36803942Free PMC Article
Gana S, Serpieri V, Valente EM
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):72-88. Epub 2022 Mar 3 doi: 10.1002/ajmg.c.31963. PMID: 35238134Free PMC Article
Guzmán-De-Villoria JA, Ferreiro-Argüelles C, Fernández-García P
Semin Ultrasound CT MR 2010 Jun;31(3):260-74. doi: 10.1053/j.sult.2010.03.002. PMID: 20483393

Recent clinical studies

Etiology

Moosavi A, Kanekar S
Clin Perinatol 2022 Sep;49(3):603-621. Epub 2022 Aug 20 doi: 10.1016/j.clp.2022.04.003. PMID: 36113925
Fouda MA, Kim TY, Cohen AR
World Neurosurg 2022 Mar;159:48-53. Epub 2021 Dec 22 doi: 10.1016/j.wneu.2021.12.062. PMID: 34954057
Garg RK, Mahadevan A, Malhotra HS, Rizvi I, Kumar N, Uniyal R
Rev Med Virol 2019 Sep;29(5):e2058. Epub 2019 Jun 24 doi: 10.1002/rmv.2058. PMID: 31237061
Donovan AP, Basson MA
J Anat 2017 Jan;230(1):4-15. Epub 2016 Sep 12 doi: 10.1111/joa.12542. PMID: 27620360Free PMC Article
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D
J Med Genet 2015 Aug;52(8):514-22. Epub 2015 Jun 19 doi: 10.1136/jmedgenet-2015-103087. PMID: 26092869Free PMC Article

Diagnosis

Moosavi A, Kanekar S
Clin Perinatol 2022 Sep;49(3):603-621. Epub 2022 Aug 20 doi: 10.1016/j.clp.2022.04.003. PMID: 36113925
Haratz KK, Lerman-Sagie T
Eur J Paediatr Neurol 2018 Nov;22(6):1016-1026. Epub 2018 Jul 6 doi: 10.1016/j.ejpn.2018.06.011. PMID: 30448280
Munell F, Tormos MA, Roig-Quilis M
Rev Neurol 2018 Apr 1;66(7):241-250. PMID: 29557550
Poretti A, Boltshauser E, Huisman TA
Neuroimaging Clin N Am 2016 Aug;26(3):341-57. doi: 10.1016/j.nic.2016.03.005. PMID: 27423798
Guzmán-De-Villoria JA, Ferreiro-Argüelles C, Fernández-García P
Semin Ultrasound CT MR 2010 Jun;31(3):260-74. doi: 10.1053/j.sult.2010.03.002. PMID: 20483393

Therapy

Fleming SM, Davis A, Simons E
Neuropharmacology 2022 Jan 1;202:108870. Epub 2021 Nov 3 doi: 10.1016/j.neuropharm.2021.108870. PMID: 34742741Free PMC Article
Milano MT, Grimm J, Niemierko A, Soltys SG, Moiseenko V, Redmond KJ, Yorke E, Sahgal A, Xue J, Mahadevan A, Muacevic A, Marks LB, Kleinberg LR
Int J Radiat Oncol Biol Phys 2021 May 1;110(1):68-86. Epub 2020 Sep 11 doi: 10.1016/j.ijrobp.2020.08.013. PMID: 32921513Free PMC Article
Garg RK, Mahadevan A, Malhotra HS, Rizvi I, Kumar N, Uniyal R
Rev Med Virol 2019 Sep;29(5):e2058. Epub 2019 Jun 24 doi: 10.1002/rmv.2058. PMID: 31237061
Rapoport DM, Mitchell JJ
Mol Genet Metab 2017 Dec;122S:49-54. Epub 2017 Aug 25 doi: 10.1016/j.ymgme.2017.08.008. PMID: 28964643
Shaw CM, Alvord EC Jr
Neuroimaging Clin N Am 1997 Feb;7(1):101-42. PMID: 9100234

Prognosis

Accogli A, Addour-Boudrahem N, Srour M
Cerebellum 2021 Aug;20(4):631-658. Epub 2021 Feb 3 doi: 10.1007/s12311-020-01224-5. PMID: 33534089
Society for Maternal-Fetal Medicine (SMFM), Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B38-B41. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.184. PMID: 33168220
Garg RK, Mahadevan A, Malhotra HS, Rizvi I, Kumar N, Uniyal R
Rev Med Virol 2019 Sep;29(5):e2058. Epub 2019 Jun 24 doi: 10.1002/rmv.2058. PMID: 31237061
Poretti A, Boltshauser E, Huisman TA
Neuroimaging Clin N Am 2016 Aug;26(3):341-57. doi: 10.1016/j.nic.2016.03.005. PMID: 27423798
Jubelt B, Mihai C, Li TM, Veerapaneni P
Curr Neurol Neurosci Rep 2011 Dec;11(6):543-52. doi: 10.1007/s11910-011-0228-5. PMID: 21956758

Clinical prediction guides

Renard D, Guillamo JS, Ion I, Thouvenot E
Acta Neurol Belg 2022 Jun;122(3):597-613. Epub 2022 Apr 15 doi: 10.1007/s13760-022-01943-y. PMID: 35428930
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
Atwal GS, Sarris CE, Spetzler RF
Handb Clin Neurol 2017;143:291-295. doi: 10.1016/B978-0-444-63640-9.00028-X. PMID: 28552152
Donovan AP, Basson MA
J Anat 2017 Jan;230(1):4-15. Epub 2016 Sep 12 doi: 10.1111/joa.12542. PMID: 27620360Free PMC Article
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D
J Med Genet 2015 Aug;52(8):514-22. Epub 2015 Jun 19 doi: 10.1136/jmedgenet-2015-103087. PMID: 26092869Free PMC Article

Recent systematic reviews

Goyal A, Fernandes-Torres J, Flemming KD, Williams LN, Daniels DJ
Childs Nerv Syst 2023 Jun;39(6):1545-1554. Epub 2023 Mar 14 doi: 10.1007/s00381-023-05903-6. PMID: 36917267
MacIver CL, Tax CMW, Jones DK, Peall KJ
Eur J Neurol 2022 Nov;29(11):3418-3448. Epub 2022 Jul 22 doi: 10.1111/ene.15483. PMID: 35785410Free PMC Article
Santoro JD, Lazzareschi DV, Campen CJ, Van Haren KP
J Neurol 2018 Jan;265(1):141-150. Epub 2017 Nov 24 doi: 10.1007/s00415-017-8684-8. PMID: 29177548
Jissendi-Tchofo P, Severino M, Nguema-Edzang B, Toure C, Soto Ares G, Barkovich AJ
Neuroradiology 2015 Feb;57(2):113-38. Epub 2014 Oct 23 doi: 10.1007/s00234-014-1431-2. PMID: 25339235
Gross BA, Batjer HH, Awad IA, Bendok BR
Neurosurgery 2009 May;64(5):E805-18; discussion E818. doi: 10.1227/01.NEU.0000343668.44288.18. PMID: 19404127

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