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Partial absence of the septum pellucidum

MedGen UID:
741093
Concept ID:
C1827299
Congenital Abnormality
Synonym: Partial absence of septum pellucidum
SNOMED CT: Partial absence of septum pellucidum (422474003)
 
HPO: HP:0030283

Definition

Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPartial absence of the septum pellucidum

Conditions with this feature

Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
MedGen UID:
1841145
Concept ID:
C5830509
Disease or Syndrome
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (NEDIHSS) is an autosomal recessive disorder characterized by prenatal or neonatal onset of intracranial hemorrhage, usually with ventriculomegaly and calcifications, resulting in parenchymal brain damage. Some affected individuals have symptoms incompatible with life and die in utero. Those that survive show profound global developmental delay with almost no motor or cognitive skills, hypotonia, spasticity, and seizures. Other features may include facial dysmorphism, retinal vascular abnormalities, and poor overall growth. The pathogenesis of the disease likely results from dysfunction of vascular endothelial cells in the brain (Lecca et al., 2023).

Professional guidelines

PubMed

Vergani P, Locatelli A, Piccoli MG, Ceruti P, Patanè L, Paterlini G, Ghidini A
Am J Obstet Gynecol 1999 Feb;180(2 Pt 1):423-8. doi: 10.1016/s0002-9378(99)70226-7. PMID: 9988813

Recent clinical studies

Etiology

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
Ward DJ, Connolly DJA, Griffiths PD
Clin Radiol 2021 Feb;76(2):160.e1-160.e14. Epub 2020 Oct 2 doi: 10.1016/j.crad.2020.09.007. PMID: 33019967
Maduram A, Farid N, Rakow-Penner R, Ghassemi N, Khanna PC, Robbins SL, Hull A, Gold J, Pretorius DH
J Ultrasound Med 2020 Aug;39(8):1601-1614. Epub 2020 Mar 2 doi: 10.1002/jum.15252. PMID: 32118312
Benson JC, Nascene D, Truwit C, McKinney AM
Clin Neuroradiol 2019 Sep;29(3):505-513. Epub 2018 Apr 16 doi: 10.1007/s00062-018-0687-z. PMID: 29663010
Alexiou GA, Zarifi MK, Georgoulis G, Mpouza E, Prodromou C, Moutafi A, Anagnostakou M, Sfakianos G, Prodromou N
Neurol Neurochir Pol 2011 Jan-Feb;45(1):18-23. doi: 10.1016/s0028-3843(14)60055-4. PMID: 21384289

Diagnosis

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
Maduram A, Farid N, Rakow-Penner R, Ghassemi N, Khanna PC, Robbins SL, Hull A, Gold J, Pretorius DH
J Ultrasound Med 2020 Aug;39(8):1601-1614. Epub 2020 Mar 2 doi: 10.1002/jum.15252. PMID: 32118312
García-Arreza A, García-Díaz L, Fajardo M, Carreto P, Antiñolo G
Fetal Diagn Ther 2013;33(2):130-2. Epub 2012 Apr 27 doi: 10.1159/000338009. PMID: 22572040
Alexiou GA, Zarifi MK, Georgoulis G, Mpouza E, Prodromou C, Moutafi A, Anagnostakou M, Sfakianos G, Prodromou N
Neurol Neurochir Pol 2011 Jan-Feb;45(1):18-23. doi: 10.1016/s0028-3843(14)60055-4. PMID: 21384289
Raybaud C, Girard N, Lévrier O, Peretti-Viton P, Manera L, Farnarier P
Childs Nerv Syst 2001 Apr;17(4-5):217-22. doi: 10.1007/s003810000389. PMID: 11398940

Prognosis

Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D
Brain 2012 May;135(Pt 5):1370-86. Epub 2012 Mar 26 doi: 10.1093/brain/aws065. PMID: 22451504Free PMC Article
Vergani P, Locatelli A, Piccoli MG, Ceruti P, Patanè L, Paterlini G, Ghidini A
Am J Obstet Gynecol 1999 Feb;180(2 Pt 1):423-8. doi: 10.1016/s0002-9378(99)70226-7. PMID: 9988813
Chamberlain MC, Press GA, Bejar RF
Pediatr Neurol 1990 Nov-Dec;6(6):382-7. doi: 10.1016/0887-8994(90)90005-l. PMID: 2127354

Clinical prediction guides

Alexiou GA, Zarifi MK, Georgoulis G, Mpouza E, Prodromou C, Moutafi A, Anagnostakou M, Sfakianos G, Prodromou N
Neurol Neurochir Pol 2011 Jan-Feb;45(1):18-23. doi: 10.1016/s0028-3843(14)60055-4. PMID: 21384289
Raybaud C, Girard N, Lévrier O, Peretti-Viton P, Manera L, Farnarier P
Childs Nerv Syst 2001 Apr;17(4-5):217-22. doi: 10.1007/s003810000389. PMID: 11398940
Chamberlain MC, Press GA, Bejar RF
Pediatr Neurol 1990 Nov-Dec;6(6):382-7. doi: 10.1016/0887-8994(90)90005-l. PMID: 2127354

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