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Severe cystic degeneration of the brain

MedGen UID:
832911
•Concept ID:
CN228278
•
Finding

Professional guidelines

PubMed

Differential Diagnosis of Intracranial Malignant Tumors Using MRI Based on Morphological Features and Signal Intensity Ratio of Lesions.
Yu H, Chen M, Huang Y, Wang P, Li J, Li Q, Jiang R
Altern Ther Health Med 2023 Nov;29(8):816-821. PMID: 37773646
Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence.
Hjartarson HT, Nathorst-Böös K, Sejersen T
Drug Des Devel Ther 2022;16:1865-1883. Epub 2022 Jun 16 doi: 10.2147/DDDT.S214174. PMID: 35734367Free PMC Article
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
Brooks BP, Zein WM, Thompson AH, Mokhtarzadeh M, Doherty DA, Parisi M, Glass IA, Malicdan MC, Vilboux T, Vemulapalli M, Mullikin JC, Gahl WA, Gunay-Aygun M
Ophthalmology 2018 Dec;125(12):1937-1952. Epub 2018 Jul 25 doi: 10.1016/j.ophtha.2018.05.026. PMID: 30055837Free PMC Article

Recent clinical studies

Etiology

Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F
Neuropediatrics 2023 Jun;54(3):161-166. Epub 2023 Mar 3 doi: 10.1055/s-0043-1764214. PMID: 36868263
Early detection relationship of cerebral palsy markers using brain structure and general movements in infants born <32 weeks gestational age.
Wang J, Shen X, Hu X, Yang H, Yin H, Zhu X, Gao H, Wu Y, Meng F
Early Hum Dev 2021 Dec;163:105452. Epub 2021 Aug 25 doi: 10.1016/j.earlhumdev.2021.105452. PMID: 34543944
Pediatric CNS imaging and long-term effects of irradiation in pediatric oncology patients.
Kluge S, Balermpas P, Lehrnbecher T, Porto L
Pediatr Int 2021 Jan;63(1):81-87. Epub 2020 Dec 5 doi: 10.1111/ped.14409. PMID: 32799347
Acute Presentation of Vestibular Schwannoma Secondary to Intratumoral Hemorrhage: A Case Report and Literature Review.
Mathkour M, Helbig B, McCormack E, Amenta PS
World Neurosurg 2019 Sep;129:157-163. Epub 2019 May 17 doi: 10.1016/j.wneu.2019.05.075. PMID: 31103763
Brain injury in premature neonates: A primary cerebral dysmaturation disorder?
Back SA, Miller SP
Ann Neurol 2014 Apr;75(4):469-86. Epub 2014 Apr 14 doi: 10.1002/ana.24132. PMID: 24615937Free PMC Article

Diagnosis

Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders.
Dong L, Shang L, Liu C, Mao C, Huang X, Chu S, Peng B, Cui L, Gao J
Ital J Pediatr 2023 Nov 19;49(1):155. doi: 10.1186/s13052-023-01555-z. PMID: 37981684Free PMC Article
Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F
Neuropediatrics 2023 Jun;54(3):161-166. Epub 2023 Mar 3 doi: 10.1055/s-0043-1764214. PMID: 36868263
Intraventricular cystic papillary meningioma: A case report and literature review.
Cheng Z, Chao Q, Zhang H, Wang DW, Shu HS
Medicine (Baltimore) 2020 Jul 31;99(31):e21514. doi: 10.1097/MD.0000000000021514. PMID: 32756190Free PMC Article
Chondroma of the Falx Cerebri with Central Cystic Degeneration and Hemorrhage: A Case Report.
Al Mohtaseb AH, Hallak AH, Aldaoud N, Rousan LA, Haddad HK, Abuzayed B
Am J Case Rep 2019 Sep 8;20:1331-1335. doi: 10.12659/AJCR.916794. PMID: 31494664Free PMC Article
Leukodystrophies with astrocytic dysfunction.
Rodriguez D
Handb Clin Neurol 2013;113:1619-28. doi: 10.1016/B978-0-444-59565-2.00030-7. PMID: 23622383

Therapy

Tumour necrosis factor blockade after asphyxia in foetal sheep ameliorates cystic white matter injury.
Lear CA, Lear BA, Davidson JO, Sae-Jiw J, Lloyd JM, Dhillon SK, Gunn AJ, Bennet L
Brain 2023 Apr 19;146(4):1453-1466. doi: 10.1093/brain/awac331. PMID: 36087304Free PMC Article
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
Brooks BP, Zein WM, Thompson AH, Mokhtarzadeh M, Doherty DA, Parisi M, Glass IA, Malicdan MC, Vilboux T, Vemulapalli M, Mullikin JC, Gahl WA, Gunay-Aygun M
Ophthalmology 2018 Dec;125(12):1937-1952. Epub 2018 Jul 25 doi: 10.1016/j.ophtha.2018.05.026. PMID: 30055837Free PMC Article
An autopsy case of the schizophrenic 32 years after lobotomy.
Arai Y, Tsutsui Y, Shinmura Y, Kosugi T, Nishikage H, Yamamoto J
Neuropathology 2001 Mar;21(1):53-60. doi: 10.1046/j.1440-1789.2001.00363.x. PMID: 11304043
Massive brain stem necrosis in the human neonate: presentation of three cases with review of the literature.
Leech RW, Brumback RA
J Child Neurol 1988 Oct;3(4):258-62. doi: 10.1177/088307388800300405. PMID: 3058781
Axonal dystrophy in the gracile nucleus in congenital biliary atresia and cystic fibrosis (mucoviscidosis): beneficial effect of vitamin E therapy.
Sung JH, Park SH, Mastri AR, Warwick WJ
J Neuropathol Exp Neurol 1980 Sep;39(5):584-97. doi: 10.1097/00005072-198009000-00007. PMID: 7218000

Prognosis

Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence.
Hjartarson HT, Nathorst-Böös K, Sejersen T
Drug Des Devel Ther 2022;16:1865-1883. Epub 2022 Jun 16 doi: 10.2147/DDDT.S214174. PMID: 35734367Free PMC Article
Early detection relationship of cerebral palsy markers using brain structure and general movements in infants born <32 weeks gestational age.
Wang J, Shen X, Hu X, Yang H, Yin H, Zhu X, Gao H, Wu Y, Meng F
Early Hum Dev 2021 Dec;163:105452. Epub 2021 Aug 25 doi: 10.1016/j.earlhumdev.2021.105452. PMID: 34543944
Intraventricular cystic papillary meningioma: A case report and literature review.
Cheng Z, Chao Q, Zhang H, Wang DW, Shu HS
Medicine (Baltimore) 2020 Jul 31;99(31):e21514. doi: 10.1097/MD.0000000000021514. PMID: 32756190Free PMC Article
Chondroma of the Falx Cerebri with Central Cystic Degeneration and Hemorrhage: A Case Report.
Al Mohtaseb AH, Hallak AH, Aldaoud N, Rousan LA, Haddad HK, Abuzayed B
Am J Case Rep 2019 Sep 8;20:1331-1335. doi: 10.12659/AJCR.916794. PMID: 31494664Free PMC Article
Leukodystrophies with astrocytic dysfunction.
Rodriguez D
Handb Clin Neurol 2013;113:1619-28. doi: 10.1016/B978-0-444-59565-2.00030-7. PMID: 23622383

Clinical prediction guides

Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F
Neuropediatrics 2023 Jun;54(3):161-166. Epub 2023 Mar 3 doi: 10.1055/s-0043-1764214. PMID: 36868263
Early detection relationship of cerebral palsy markers using brain structure and general movements in infants born <32 weeks gestational age.
Wang J, Shen X, Hu X, Yang H, Yin H, Zhu X, Gao H, Wu Y, Meng F
Early Hum Dev 2021 Dec;163:105452. Epub 2021 Aug 25 doi: 10.1016/j.earlhumdev.2021.105452. PMID: 34543944
Pediatric CNS imaging and long-term effects of irradiation in pediatric oncology patients.
Kluge S, Balermpas P, Lehrnbecher T, Porto L
Pediatr Int 2021 Jan;63(1):81-87. Epub 2020 Dec 5 doi: 10.1111/ped.14409. PMID: 32799347
Multimodal MR Features of 8 Cases of Epithelioid Glioblastoma.
Zhao JP, Cui CX, Wang JC, Su HW, Duan CF, Liu XJ
Biomed Res Int 2020;2020:9586806. Epub 2020 Oct 16 doi: 10.1155/2020/9586806. PMID: 33123592Free PMC Article
Preterm brain Injury: White matter injury.
Schneider J, Miller SP
Handb Clin Neurol 2019;162:155-172. doi: 10.1016/B978-0-444-64029-1.00007-2. PMID: 31324309

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