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Other syndrome with a central nervous system malformation as major feature

MedGen UID:
799264
•Concept ID:
CN202470
•
Disease or Syndrome
Synonym: Other syndrome with a central nervous system malformation as a major feature
 
Orphanet: ORPHA269531

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOther syndrome with a central nervous system malformation as major feature
Follow this link to review classifications for Other syndrome with a central nervous system malformation as major feature in Orphanet.

Professional guidelines

PubMed

Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome.
Comi AM
Neurologist 2011 Jul;17(4):179-84. doi: 10.1097/NRL.0b013e318220c5b6. PMID: 21712663Free PMC Article
Neurocutaneous syndromes and epilepsy-issues in diagnosis and management.
Cross JH
Epilepsia 2005;46 Suppl 10:17-23. doi: 10.1111/j.1528-1167.2005.00353.x. PMID: 16359466
Psychiatric disorders in Prader-Willi syndrome: epidemiology and management.
Dykens E, Shah B
CNS Drugs 2003;17(3):167-78. doi: 10.2165/00023210-200317030-00003. PMID: 12617696

Recent clinical studies

Etiology

Von Hippel-Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
Rednam SP, Erez A, Druker H, Janeway KA, Kamihara J, Kohlmann WK, Nathanson KL, States LJ, Tomlinson GE, Villani A, Voss SD, Schiffman JD, Wasserman JD
Clin Cancer Res 2017 Jun 15;23(12):e68-e75. doi: 10.1158/1078-0432.CCR-17-0547. PMID: 28620007
Cutaneous and ocular manifestations of neurocutaneous syndromes.
Chernoff KA, Schaffer JV
Clin Dermatol 2016 Mar-Apr;34(2):183-204. Epub 2015 Nov 22 doi: 10.1016/j.clindermatol.2015.11.003. PMID: 26903185
Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development.
Meechan DW, Maynard TM, Tucker ES, Fernandez A, Karpinski BA, Rothblat LA, LaMantia AS
Prog Neurobiol 2015 Jul;130:1-28. Epub 2015 Apr 9 doi: 10.1016/j.pneurobio.2015.03.004. PMID: 25866365Free PMC Article
The genetics of Alzheimer's disease: a review and a discussion of the implications.
Davies P
Neurobiol Aging 1986 Nov-Dec;7(6):459-66. doi: 10.1016/0197-4580(86)90071-0. PMID: 2951608
Genetic factors in amyloidosis.
Thomas PK
J Med Genet 1975 Dec;12(4):317-26. doi: 10.1136/jmg.12.4.317. PMID: 176361Free PMC Article

Diagnosis

Tics in patients with encephalitis.
Badenoch J, Searle T, Watson I, Cavanna AE
Neurol Sci 2021 Apr;42(4):1311-1323. Epub 2021 Jan 23 doi: 10.1007/s10072-021-05065-w. PMID: 33486621Free PMC Article
Encephalopathy in patients with COVID-19: A review.
Garg RK, Paliwal VK, Gupta A
J Med Virol 2021 Jan;93(1):206-222. Epub 2020 Jul 11 doi: 10.1002/jmv.26207. PMID: 32558956
Polymicrogyria: a common and heterogeneous malformation of cortical development.
Stutterd CA, Leventer RJ
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):227-39. Epub 2014 May 28 doi: 10.1002/ajmg.c.31399. PMID: 24888723
Giant axonal neuropathy.
Hentati F, Hentati E, Amouri R
Handb Clin Neurol 2013;115:933-8. doi: 10.1016/B978-0-444-52902-2.00052-7. PMID: 23931822
Richter syndrome: a review of clinical, ocular, neurological and other manifestations.
Omoti CE, Omoti AE
Br J Haematol 2008 Sep;142(5):709-16. Epub 2008 May 19 doi: 10.1111/j.1365-2141.2008.07248.x. PMID: 18492119

Therapy

Pearls for the diagnosis and possible pathophysiological mechanisms of valproic acid-induced lupus erythematosus: A literature review.
Papadopoulou E, Saroglou M, Ismailos G, Fletsios D, Tsavlis D, Tryfon S
Lupus 2022 May;31(6):650-658. Epub 2022 Mar 24 doi: 10.1177/09612033221088445. PMID: 35324365
Update on adrenal insufficiency in patients with liver cirrhosis.
Trifan A, Chiriac S, Stanciu C
World J Gastroenterol 2013 Jan 28;19(4):445-56. doi: 10.3748/wjg.v19.i4.445. PMID: 23382623Free PMC Article
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
Milh M, Villeneuve N, Chouchane M, Kaminska A, Laroche C, Barthez MA, Gitiaux C, Bartoli C, Borges-Correia A, Cacciagli P, Mignon-Ravix C, Cuberos H, Chabrol B, Villard L
Epilepsia 2011 Oct;52(10):1828-34. Epub 2011 Jul 19 doi: 10.1111/j.1528-1167.2011.03181.x. PMID: 21770924
Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome.
Comi AM
Neurologist 2011 Jul;17(4):179-84. doi: 10.1097/NRL.0b013e318220c5b6. PMID: 21712663Free PMC Article
Psychiatric disorders in Prader-Willi syndrome: epidemiology and management.
Dykens E, Shah B
CNS Drugs 2003;17(3):167-78. doi: 10.2165/00023210-200317030-00003. PMID: 12617696

Prognosis

Central nervous system involvement of hypereosinophilic syndrome: a report of 10 cases and a literature review.
Lee D, Ahn TB
J Neurol Sci 2014 Dec 15;347(1-2):281-7. Epub 2014 Oct 29 doi: 10.1016/j.jns.2014.10.023. PMID: 25455301
Giant axonal neuropathy.
Hentati F, Hentati E, Amouri R
Handb Clin Neurol 2013;115:933-8. doi: 10.1016/B978-0-444-52902-2.00052-7. PMID: 23931822
MRI and CT appearances in metabolic encephalopathies due to systemic diseases in adults.
Bathla G, Hegde AN
Clin Radiol 2013 Jun;68(6):545-54. Epub 2012 Nov 9 doi: 10.1016/j.crad.2012.05.021. PMID: 23142023
Semantic dementia: a unique clinicopathological syndrome.
Hodges JR, Patterson K
Lancet Neurol 2007 Nov;6(11):1004-14. doi: 10.1016/S1474-4422(07)70266-1. PMID: 17945154
Neurocutaneous syndromes and epilepsy-issues in diagnosis and management.
Cross JH
Epilepsia 2005;46 Suppl 10:17-23. doi: 10.1111/j.1528-1167.2005.00353.x. PMID: 16359466

Clinical prediction guides

Pearls for the diagnosis and possible pathophysiological mechanisms of valproic acid-induced lupus erythematosus: A literature review.
Papadopoulou E, Saroglou M, Ismailos G, Fletsios D, Tsavlis D, Tryfon S
Lupus 2022 May;31(6):650-658. Epub 2022 Mar 24 doi: 10.1177/09612033221088445. PMID: 35324365
Tics in patients with encephalitis.
Badenoch J, Searle T, Watson I, Cavanna AE
Neurol Sci 2021 Apr;42(4):1311-1323. Epub 2021 Jan 23 doi: 10.1007/s10072-021-05065-w. PMID: 33486621Free PMC Article
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.
Willemsen MA, IJlst L, Steijlen PM, Rotteveel JJ, de Jong JG, van Domburg PH, Mayatepek E, Gabreëls FJ, Wanders RJ
Brain 2001 Jul;124(Pt 7):1426-37. doi: 10.1093/brain/124.7.1426. PMID: 11408337
Hydrocephalus and craniosynostosis.
Cinalli G, Sainte-Rose C, Kollar EM, Zerah M, Brunelle F, Chumas P, Arnaud E, Marchac D, Pierre-Kahn A, Renier D
J Neurosurg 1998 Feb;88(2):209-14. doi: 10.3171/jns.1998.88.2.0209. PMID: 9452225
Neurohormonal perturbations in fibromyalgia.
Crofford LJ, Engleberg NC, Demitrack MA
Baillieres Clin Rheumatol 1996 May;10(2):365-78. doi: 10.1016/s0950-3579(96)80022-7. PMID: 8911654

Recent systematic reviews

Tics in patients with encephalitis.
Badenoch J, Searle T, Watson I, Cavanna AE
Neurol Sci 2021 Apr;42(4):1311-1323. Epub 2021 Jan 23 doi: 10.1007/s10072-021-05065-w. PMID: 33486621Free PMC Article

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