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Subependymal cysts

MedGen UID:
318876
Concept ID:
C1833431
Anatomical Abnormality; Finding
Synonyms: Subependymal germinolytic cyst; Subependymal Pseudocyst; Subependymal pseudocyst
 
HPO: HP:0002416

Definition

Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSubependymal cysts

Conditions with this feature

Pyruvate dehydrogenase E3-binding protein deficiency
MedGen UID:
343383
Concept ID:
C1855553
Disease or Syndrome
Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.
Congenital brain dysgenesis due to glutamine synthetase deficiency
MedGen UID:
400638
Concept ID:
C1864910
Disease or Syndrome
Congenital glutamine deficiency is a severe autosomal recessive disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities (summary by Haberle et al., 2011).
D-2-hydroxyglutaric aciduria 1
MedGen UID:
463405
Concept ID:
C3152055
Disease or Syndrome
D-2-hydroxyglutaric aciduria is a neurometabolic disorder first described by Chalmers et al. (1980). Clinical symptoms include developmental delay, epilepsy, hypotonia, and dysmorphic features. Mild and severe phenotypes were characterized (van der Knaap et al., 1999). The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and, often, cardiomyopathy. The mild phenotype has a more variable clinical presentation. Genetic Heterogeneity of D-2-Hydroxyglutaric Aciduria D-2-hydroxyglutaric aciduria-2 (D2HGA2; 613657) is caused by heterozygous mutation in the mitochondrial isocitrate dehydrogenase-2 gene (IDH2; 147650) on chromosome 15q26.
Peroxisome biogenesis disorder 1A (Zellweger)
MedGen UID:
1648474
Concept ID:
C4721541
Disease or Syndrome
Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum were fully determined, the term "ZSD" is now used to refer to all individuals with a defect in one of the ZSD-PEX genes regardless of phenotype. Individuals with ZSD usually come to clinical attention in the newborn period or later in childhood. Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth.
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
MedGen UID:
1684879
Concept ID:
C5231486
Disease or Syndrome
Complex cortical dysplasia with other brain malformations-15 (CDCBM15) is an autosomal recessive neurologic disorder characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development. Brain imaging shows variable malformation of cortical development on the lissencephaly spectrum, mainly pachygyria and thin corpus callosum (summary by Mitani et al., 2019). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).
Combined oxidative phosphorylation deficiency 29
MedGen UID:
1799030
Concept ID:
C5567607
Disease or Syndrome
A rare mitochondrial oxidative phosphorylation disorder with characteristics of microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination.
Holoprosencephaly 14
MedGen UID:
1811868
Concept ID:
C5676994
Disease or Syndrome
Holoprosencephaly-14 (HPE14) is an autosomal recessive condition characterized by severe developmental delay secondary to brain malformations within the holoprosencephaly spectrum (Drissi et al., 2022). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).

Professional guidelines

PubMed

Lin YJ, Chiu NC, Chen HJ, Huang JY, Ho CS
Pediatr Neonatol 2021 Mar;62(2):158-164. Epub 2020 Nov 2 doi: 10.1016/j.pedneo.2020.10.012. PMID: 33214065
Yang M, Jiang Y, Chen Q, Lv M, Luo Q
Prenat Diagn 2017 Dec;37(13):1322-1326. doi: 10.1002/pd.5177. PMID: 29110323
van der Weiden S, Steggerda SJ, Te Pas AB, Vossen AC, Walther FJ, Lopriore E
Early Hum Dev 2010 Apr;86(4):203-7. Epub 2010 Mar 15 doi: 10.1016/j.earlhumdev.2010.02.009. PMID: 20227842

Recent clinical studies

Etiology

Kyriakopoulou A, Papaevangelou V, Argyropoulou M, Papathanasiou M, Xydis V, Giorgi M, Ntorkou A, Chlapoutaki C, Alexopoulou E
J Matern Fetal Neonatal Med 2023 Dec;36(1):2220564. doi: 10.1080/14767058.2023.2220564. PMID: 37290964
Vande Walle C, Keymeulen A, Schiettecatte E, Acke F, Dhooge I, Smets K, Herregods N
Eur Radiol 2021 Oct;31(10):8001-8010. Epub 2021 Mar 31 doi: 10.1007/s00330-021-07776-2. PMID: 33787973
Lin YJ, Chiu NC, Chen HJ, Huang JY, Ho CS
Pediatr Neonatol 2021 Mar;62(2):158-164. Epub 2020 Nov 2 doi: 10.1016/j.pedneo.2020.10.012. PMID: 33214065
Yang M, Jiang Y, Chen Q, Lv M, Luo Q
Prenat Diagn 2017 Dec;37(13):1322-1326. doi: 10.1002/pd.5177. PMID: 29110323
Bandaralage SP, Farnaghi S, Dulhunty JM, Kothari A
Pediatr Radiol 2016 Mar;46(3):357-64. Epub 2016 Jan 11 doi: 10.1007/s00247-015-3492-8. PMID: 26754537

Diagnosis

Kyriakopoulou A, Papaevangelou V, Argyropoulou M, Papathanasiou M, Xydis V, Giorgi M, Ntorkou A, Chlapoutaki C, Alexopoulou E
J Matern Fetal Neonatal Med 2023 Dec;36(1):2220564. doi: 10.1080/14767058.2023.2220564. PMID: 37290964
Lin YJ, Chiu NC, Chen HJ, Huang JY, Ho CS
Pediatr Neonatol 2021 Mar;62(2):158-164. Epub 2020 Nov 2 doi: 10.1016/j.pedneo.2020.10.012. PMID: 33214065
Levine D, Jani JC, Castro-Aragon I, Cannie M
Radiology 2017 Dec;285(3):744-761. doi: 10.1148/radiol.2017171238. PMID: 29155634
Yang M, Jiang Y, Chen Q, Lv M, Luo Q
Prenat Diagn 2017 Dec;37(13):1322-1326. doi: 10.1002/pd.5177. PMID: 29110323
Bandaralage SP, Farnaghi S, Dulhunty JM, Kothari A
Pediatr Radiol 2016 Mar;46(3):357-64. Epub 2016 Jan 11 doi: 10.1007/s00247-015-3492-8. PMID: 26754537

Therapy

Mulkey SB, Bulas DI, Vezina G, Fourzali Y, Morales A, Arroyave-Wessel M, Swisher CB, Cristante C, Russo SM, Encinales L, Pacheco N, Kousa YA, Lanciotti RS, Cure C, DeBiasi RL, du Plessis AJ
JAMA Pediatr 2019 Jan 1;173(1):52-59. doi: 10.1001/jamapediatrics.2018.4138. PMID: 30476967Free PMC Article
Lucca J, Baldisserotto M
Pediatr Radiol 2013 Jan;43(2):212-8. Epub 2012 Nov 15 doi: 10.1007/s00247-012-2528-6. PMID: 23229344
Smith LM, Qureshi N, Renslo R, Sinow RM
J Clin Ultrasound 2001 Feb;29(2):72-7. doi: 10.1002/1097-0096(200102)29:2<72::AID-JCU1001>3.0.CO;2-F. PMID: 11425091
Squires L, Betz B, Umfleet J, Kelley R
Dev Med Child Neurol 1997 Apr;39(4):267-9. doi: 10.1111/j.1469-8749.1997.tb07424.x. PMID: 9183268
von Allmen D, Babcock D, Matsumoto J, Flake A, Warner BW, Stevenson RJ, Ryckman FC
J Pediatr Surg 1992 Jan;27(1):36-9. doi: 10.1016/0022-3468(92)90100-l. PMID: 1552441

Prognosis

Kyriakopoulou A, Papaevangelou V, Argyropoulou M, Papathanasiou M, Xydis V, Giorgi M, Ntorkou A, Chlapoutaki C, Alexopoulou E
J Matern Fetal Neonatal Med 2023 Dec;36(1):2220564. doi: 10.1080/14767058.2023.2220564. PMID: 37290964
Lin YJ, Chiu NC, Chen HJ, Huang JY, Ho CS
Pediatr Neonatol 2021 Mar;62(2):158-164. Epub 2020 Nov 2 doi: 10.1016/j.pedneo.2020.10.012. PMID: 33214065
Yang M, Jiang Y, Chen Q, Lv M, Luo Q
Prenat Diagn 2017 Dec;37(13):1322-1326. doi: 10.1002/pd.5177. PMID: 29110323
Haas-Lude K, Naegele T, Kraegeloh-Mann I, Schuhmann M
Neuropediatrics 2014 Jun;45(3):192-5. Epub 2014 Jan 4 doi: 10.1055/s-0033-1363853. PMID: 24390861
Larcos G, Gruenewald SM, Lui K
AJR Am J Roentgenol 1994 Apr;162(4):953-6. doi: 10.2214/ajr.162.4.8141023. PMID: 8141023

Clinical prediction guides

Arulkumaran S, Tusor N, Chew A, Falconer S, Kennea N, Nongena P, Hajnal JV, Counsell SJ, Rutherford MA, Edwards AD
AJNR Am J Neuroradiol 2020 Aug;41(8):1509-1516. doi: 10.3174/ajnr.A6666. PMID: 32796100Free PMC Article
Viñals F, Correa F, Tubau A, Alonso I, Serra V, Herraiz I, Hormazabal L, Quiroz G, Saint-Jean C, Diaz L, Zambrano B, Galindo A
Fetal Diagn Ther 2020;47(6):514-518. Epub 2020 Jan 13 doi: 10.1159/000504980. PMID: 31931505
Prendiville JS, Cabral DA, Poskitt KJ, Au S, Sargent MA
Pediatr Dermatol 2003 Jan-Feb;20(1):60-7. doi: 10.1046/j.1525-1470.2003.03014.x. PMID: 12558850
van der Knaap MS, Jakobs C, Hoffmann GF, Nyhan WL, Renier WO, Smeitink JA, Catsman-Berrevoets CE, Hjalmarson O, Vallance H, Sugita K, Bowe CM, Herrin JT, Craigen WJ, Buist NR, Brookfield DS, Chalmers RA
Ann Neurol 1999 Jan;45(1):111-9. doi: 10.1002/1531-8249(199901)45:1<111::aid-art17>3.0.co;2-n. PMID: 9894884
Larcos G, Gruenewald SM, Lui K
AJR Am J Roentgenol 1994 Apr;162(4):953-6. doi: 10.2214/ajr.162.4.8141023. PMID: 8141023

Recent systematic reviews

Bandaralage SP, Farnaghi S, Dulhunty JM, Kothari A
Pediatr Radiol 2016 Mar;46(3):357-64. Epub 2016 Jan 11 doi: 10.1007/s00247-015-3492-8. PMID: 26754537

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