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Enlarged tectum

MedGen UID:
1841700
Concept ID:
C5826375
Anatomical Abnormality
Synonym: Thick tectum
 
HPO: HP:0034405

Definition

Increasaed size of the tectum, which is the region of the midbrain posterior to the cerebral aqueduct of Sylvius. The midbrain is the most superior portion of the brainstem. [from HPO]

Conditions with this feature

Lissencephaly 9 with complex brainstem malformation
MedGen UID:
1681109
Concept ID:
C5193029
Disease or Syndrome
Lissencephaly-9 with complex brainstem malformation (LIS9) is an autosomal dominant neurologic disorder characterized by global developmental delay apparent since infancy, impaired intellectual development with poor or absent speech, and sometimes abnormal or involuntary movements associated with abnormal brain imaging that typically shows pachygyria, lissencephaly, and malformation of the brainstem consistent with a neuronal migration defect (summary by Dobyns et al., 2018). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).

Recent clinical studies

Etiology

Leibovitz Z, Shkolnik C, Haratz KK, Malinger G, Shapiro I, Lerman-Sagie T
Ultrasound Obstet Gynecol 2014 Nov;44(5):581-7. doi: 10.1002/uog.13312. PMID: 24478245
Lázaro BC, Landeiro JA
Arq Neuropsiquiatr 2006 Jun;64(2B):432-6. doi: 10.1590/s0004-282x2006000300015. PMID: 16917614
Ternier J, Wray A, Puget S, Bodaert N, Zerah M, Sainte-Rose C
J Neurosurg 2006 Jun;104(6 Suppl):369-76. doi: 10.3171/ped.2006.104.6.369. PMID: 16776370
Guillamo JS, Monjour A, Taillandier L, Devaux B, Varlet P, Haie-Meder C, Defer GL, Maison P, Mazeron JJ, Cornu P, Delattre JY; Association des Neuro-Oncologues d'Expression Française (ANOCEF)
Brain 2001 Dec;124(Pt 12):2528-39. doi: 10.1093/brain/124.12.2528. PMID: 11701605
Barkovich AJ, Newton TH
AJNR Am J Neuroradiol 1989 May-Jun;10(3):471-6. PMID: 2501978Free PMC Article

Diagnosis

Sprenger F, de Oliveira Salvador GL, Vinholi G, Bertholdo DB, de Almeida Teixeira BC
Childs Nerv Syst 2022 Jun;38(6):1189-1193. Epub 2021 Sep 29 doi: 10.1007/s00381-021-05366-7. PMID: 34586492
Lázaro BC, Landeiro JA
Arq Neuropsiquiatr 2006 Jun;64(2B):432-6. doi: 10.1590/s0004-282x2006000300015. PMID: 16917614
Moog U, Jones MC, Bird LM, Dobyns WB
J Med Genet 2005 Dec;42(12):913-21. Epub 2005 May 6 doi: 10.1136/jmg.2005.031369. PMID: 15879499Free PMC Article
Guillamo JS, Monjour A, Taillandier L, Devaux B, Varlet P, Haie-Meder C, Defer GL, Maison P, Mazeron JJ, Cornu P, Delattre JY; Association des Neuro-Oncologues d'Expression Française (ANOCEF)
Brain 2001 Dec;124(Pt 12):2528-39. doi: 10.1093/brain/124.12.2528. PMID: 11701605
Boydston WR, Sanford RA, Muhlbauer MS, Kun LE, Kirk E, Dohan FC Jr, Schweitzer JB
Pediatr Neurosurg 1991-1992;17(5):234-8. doi: 10.1159/000120603. PMID: 1822688

Therapy

Andres RH, Pendharkar AV, Kuhlen D, Mariani L
J Neurosurg 2010 Jul;113(1):82-4. doi: 10.3171/2009.10.JNS09845. PMID: 19911884
Guillamo JS, Monjour A, Taillandier L, Devaux B, Varlet P, Haie-Meder C, Defer GL, Maison P, Mazeron JJ, Cornu P, Delattre JY; Association des Neuro-Oncologues d'Expression Française (ANOCEF)
Brain 2001 Dec;124(Pt 12):2528-39. doi: 10.1093/brain/124.12.2528. PMID: 11701605
Li CM, Yan RT, Wang SZ
Dev Dyn 1999 Jul;215(3):238-47. doi: 10.1002/(SICI)1097-0177(199907)215:3<238::AID-AJA6>3.0.CO;2-F. PMID: 10398534Free PMC Article

Prognosis

Okumura A, Lee T, Ikeno M, Shimojima K, Kajino K, Inoue Y, Yoshikawa N, Suganuma H, Suzuki M, Hisata K, Shoji H, Takanashi J, Barkovich AJ, Shimizu T, Yamamoto T, Hayashi M
Brain Dev 2012 Nov;34(10):881-5. Epub 2012 Apr 7 doi: 10.1016/j.braindev.2012.03.003. PMID: 22483529
Lázaro BC, Landeiro JA
Arq Neuropsiquiatr 2006 Jun;64(2B):432-6. doi: 10.1590/s0004-282x2006000300015. PMID: 16917614
Ternier J, Wray A, Puget S, Bodaert N, Zerah M, Sainte-Rose C
J Neurosurg 2006 Jun;104(6 Suppl):369-76. doi: 10.3171/ped.2006.104.6.369. PMID: 16776370
Guillamo JS, Monjour A, Taillandier L, Devaux B, Varlet P, Haie-Meder C, Defer GL, Maison P, Mazeron JJ, Cornu P, Delattre JY; Association des Neuro-Oncologues d'Expression Française (ANOCEF)
Brain 2001 Dec;124(Pt 12):2528-39. doi: 10.1093/brain/124.12.2528. PMID: 11701605
Ritter AM, Muizelaar JP, Barnes T, Choi S, Fatouros P, Ward J, Bullock MR
Neurosurgery 1999 May;44(5):941-8. doi: 10.1097/00006123-199905000-00005. PMID: 10232526

Clinical prediction guides

Sprenger F, de Oliveira Salvador GL, Vinholi G, Bertholdo DB, de Almeida Teixeira BC
Childs Nerv Syst 2022 Jun;38(6):1189-1193. Epub 2021 Sep 29 doi: 10.1007/s00381-021-05366-7. PMID: 34586492
Armstrong RA, McKee AC, Cairns NJ
Optom Vis Sci 2017 Jan;94(1):33-42. doi: 10.1097/OPX.0000000000000911. PMID: 27391531
Leibovitz Z, Shkolnik C, Haratz KK, Malinger G, Shapiro I, Lerman-Sagie T
Ultrasound Obstet Gynecol 2014 Nov;44(5):581-7. doi: 10.1002/uog.13312. PMID: 24478245
Ternier J, Wray A, Puget S, Bodaert N, Zerah M, Sainte-Rose C
J Neurosurg 2006 Jun;104(6 Suppl):369-76. doi: 10.3171/ped.2006.104.6.369. PMID: 16776370
Ritter AM, Muizelaar JP, Barnes T, Choi S, Fatouros P, Ward J, Bullock MR
Neurosurgery 1999 May;44(5):941-8. doi: 10.1097/00006123-199905000-00005. PMID: 10232526

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