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Hydrocephalus, congenital communicating, 1(HYDCC1; HYC4)

MedGen UID:
1684770
•Concept ID:
C5231454
•
Disease or Syndrome
Synonym: HYDROCEPHALUS, CONGENITAL, 4
 
Gene (location): TRIM71 (3p22.3)
 
Monarch Initiative: MONDO:0032862
OMIM®: 618667

Definition

Congenital hydrocephalus-4 (HYC4) is characterized by inadequate passage of cerebrospinal fluid (CSF) from its point of production to its point of absorption, in the absence of obstruction (communicating hydrocephalus). Patients undergo surgical shunting at birth because of extreme ventriculomegaly. Patients have neurodevelopmental delay and epilepsy (Furey et al., 2018). [from OMIM]

Clinical features

From HPO
Communicating hydrocephalus
MedGen UID:
1058
•Concept ID:
C0009451
•
Disease or Syndrome
A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.
See: Feature record | Search on this feature
Seizure
MedGen UID:
20693
•Concept ID:
C0036572
•
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
See: Feature record | Search on this feature
Ventriculomegaly
MedGen UID:
480553
•Concept ID:
C3278923
•
Finding
An increase in size of the ventricular system of the brain.
See: Feature record | Search on this feature
Neurodevelopmental delay
MedGen UID:
868344
•Concept ID:
C4022738
•
Finding
Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Surgery or Endovascular Treatment in Patients with Anterior Communicating Artery Aneurysm: A Systematic Review and Meta-Analysis.
Sattari SA, Shahbandi A, Lee RP, Feghali J, Rincon-Torroella J, Yang W, Abdulrahim M, Ahmadi S, So RJ, Hung A, Caplan JM, Gonzalez F, Tamargo RJ, Huang J, Xu R
World Neurosurg 2023 Jul;175:31-44. Epub 2023 Apr 1 doi: 10.1016/j.wneu.2023.03.111. PMID: 37011760
Management of posthaemorrhagic ventricular dilatation.
Whitelaw A, Aquilina K
Arch Dis Child Fetal Neonatal Ed 2012 May;97(3):F229-3. Epub 2011 Feb 2 doi: 10.1136/adc.2010.190173. PMID: 21289015
Management of hydrocephalus in patients with tuberculous meningitis.
Rajshekhar V
Neurol India 2009 Jul-Aug;57(4):368-74. doi: 10.4103/0028-3886.55572. PMID: 19770534

Recent clinical studies

Etiology

Trastuzumab deruxtecan in patients with metastatic non-small-cell lung cancer (DESTINY-Lung01): primary results of the HER2-overexpressing cohorts from a single-arm, phase 2 trial.
Smit EF, Felip E, Uprety D, Nagasaka M, Nakagawa K, Paz-Ares Rodríguez L, Pacheco JM, Li BT, Planchard D, Baik C, Goto Y, Murakami H, Saltos A, Pereira K, Taguchi A, Cheng Y, Yan Q, Feng W, Tsuchihashi Z, Jänne PA
Lancet Oncol 2024 Apr;25(4):439-454. doi: 10.1016/S1470-2045(24)00064-0. PMID: 38547891
Lewy Body Dementia Association's Research Centers of Excellence Program: Inaugural Meeting Proceedings.
Peterson B, Armstrong M, Galasko D, Galvin JE, Goldman J, Irwin D, Paulson H, Kaufer D, Leverenz J, Lunde A, McKeith IG, Siderowf A, Taylor A, Amodeo K, Barrett M, Domoto-Reilly K, Duda J, Gomperts S, Graff-Radford N, Holden S, Honig L, Huddleston D, Lippa C, Litvan I, Manning C, Marder K, Moussa C, Onyike C, Pagan F, Pantelyat A, Pelak V, Poston K, Quinn J, Richard I, Rosenthal LS, Sabbagh M, Scharre D, Sha S, Shill H, Torres-Yaghi Y, Christie T, Graham T, Richards I, Koehler M, Boeve B
Alzheimers Res Ther 2019 Mar 13;11(1):23. doi: 10.1186/s13195-019-0476-1. PMID: 30867052Free PMC Article
Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies.
Wang S, Peng D
Int Heart J 2019 Jan 25;60(1):12-18. Epub 2018 Dec 5 doi: 10.1536/ihj.17-604. PMID: 30518714
Smartphone-assisted minimally invasive neurosurgery.
Mandel M, Petito CE, Tutihashi R, Paiva W, Abramovicz Mandel S, Gomes Pinto FC, Ferreira de Andrade A, Teixeira MJ, Figueiredo EG
J Neurosurg 2019 Jan 1;130(1):90-98. Epub 2018 Mar 13 doi: 10.3171/2017.6.JNS1712. PMID: 29529913
Post-traumatic hydrocephalus is a contraindication for endoscopic third-ventriculostomy: isn't it?
De Bonis P, Tamburrini G, Mangiola A, Pompucci A, Mattogno PP, Porso M, Anile C
Clin Neurol Neurosurg 2013 Jan;115(1):9-12. Epub 2012 Aug 25 doi: 10.1016/j.clineuro.2012.08.021. PMID: 22925601

Diagnosis

Medical, Neurologic, and Neuromusculoskeletal Complications.
Woo JE, Azariah A, Reed EA, Gut N
Phys Med Rehabil Clin N Am 2024 Feb;35(1):127-144. Epub 2023 Jul 27 doi: 10.1016/j.pmr.2023.06.024. PMID: 37993183
Idiopathic normal pressure hydrocephalus: historical context and a contemporary guide.
Carswell C
Pract Neurol 2023 Feb;23(1):15-22. Epub 2022 Sep 26 doi: 10.1136/pn-2021-003291. PMID: 36162853
Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies.
Wang S, Peng D
Int Heart J 2019 Jan 25;60(1):12-18. Epub 2018 Dec 5 doi: 10.1536/ihj.17-604. PMID: 30518714
Vertex cephaloceles: a review.
Gao Z, Massimi L, Rogerio S, Raybaud C, Di Rocco C
Childs Nerv Syst 2014 Jan;30(1):65-72. Epub 2013 Aug 29 doi: 10.1007/s00381-013-2249-7. PMID: 23989428
Paramesencephalic arachnoid cysts.
Grollmus JM, Wilson CB, Newton TH
Neurology 1976 Feb;26(2):128-34. doi: 10.1212/wnl.26.2.128. PMID: 943067

Therapy

Percutaneous Abdominal Puncture for Catheterization with Assistance of Guidewire in Lumboperitoneal Shunt.
Zhang W, Cai Y, Jia P, Cheng K
World Neurosurg 2022 Sep;165:1-5. Epub 2022 Jun 16 doi: 10.1016/j.wneu.2022.06.040. PMID: 35717013
Lewy Body Dementia Association's Research Centers of Excellence Program: Inaugural Meeting Proceedings.
Peterson B, Armstrong M, Galasko D, Galvin JE, Goldman J, Irwin D, Paulson H, Kaufer D, Leverenz J, Lunde A, McKeith IG, Siderowf A, Taylor A, Amodeo K, Barrett M, Domoto-Reilly K, Duda J, Gomperts S, Graff-Radford N, Holden S, Honig L, Huddleston D, Lippa C, Litvan I, Manning C, Marder K, Moussa C, Onyike C, Pagan F, Pantelyat A, Pelak V, Poston K, Quinn J, Richard I, Rosenthal LS, Sabbagh M, Scharre D, Sha S, Shill H, Torres-Yaghi Y, Christie T, Graham T, Richards I, Koehler M, Boeve B
Alzheimers Res Ther 2019 Mar 13;11(1):23. doi: 10.1186/s13195-019-0476-1. PMID: 30867052Free PMC Article
Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies.
Wang S, Peng D
Int Heart J 2019 Jan 25;60(1):12-18. Epub 2018 Dec 5 doi: 10.1536/ihj.17-604. PMID: 30518714
Post-traumatic hydrocephalus is a contraindication for endoscopic third-ventriculostomy: isn't it?
De Bonis P, Tamburrini G, Mangiola A, Pompucci A, Mattogno PP, Porso M, Anile C
Clin Neurol Neurosurg 2013 Jan;115(1):9-12. Epub 2012 Aug 25 doi: 10.1016/j.clineuro.2012.08.021. PMID: 22925601
Adult communicating hydrocephalus.
Pickard JD
Br J Hosp Med 1982 Jan;27(1):35, 37-8, 40, passim. PMID: 7037092

Prognosis

Idiopathic normal pressure hydrocephalus: historical context and a contemporary guide.
Carswell C
Pract Neurol 2023 Feb;23(1):15-22. Epub 2022 Sep 26 doi: 10.1136/pn-2021-003291. PMID: 36162853
Vertex cephaloceles: a review.
Gao Z, Massimi L, Rogerio S, Raybaud C, Di Rocco C
Childs Nerv Syst 2014 Jan;30(1):65-72. Epub 2013 Aug 29 doi: 10.1007/s00381-013-2249-7. PMID: 23989428
Hemispherotomy: description of surgical technique.
Smith JR, Fountas KN, Lee MR
Childs Nerv Syst 2005 Jun;21(6):466-72. Epub 2005 Jan 22 doi: 10.1007/s00381-004-1067-3. PMID: 15666178
Suprasellar arachnoid cysts: options in operative management.
Rappaport ZH
Acta Neurochir (Wien) 1993;122(1-2):71-5. doi: 10.1007/BF01446989. PMID: 8333311
Delivering hydrocephalic fetuses.
Strong C
Bioethics 1991 Jan;5(1):1-22. doi: 10.1111/j.1467-8519.1991.tb00141.x. PMID: 11650945

Clinical prediction guides

Trastuzumab deruxtecan in patients with metastatic non-small-cell lung cancer (DESTINY-Lung01): primary results of the HER2-overexpressing cohorts from a single-arm, phase 2 trial.
Smit EF, Felip E, Uprety D, Nagasaka M, Nakagawa K, Paz-Ares Rodríguez L, Pacheco JM, Li BT, Planchard D, Baik C, Goto Y, Murakami H, Saltos A, Pereira K, Taguchi A, Cheng Y, Yan Q, Feng W, Tsuchihashi Z, Jänne PA
Lancet Oncol 2024 Apr;25(4):439-454. doi: 10.1016/S1470-2045(24)00064-0. PMID: 38547891
Medical, Neurologic, and Neuromusculoskeletal Complications.
Woo JE, Azariah A, Reed EA, Gut N
Phys Med Rehabil Clin N Am 2024 Feb;35(1):127-144. Epub 2023 Jul 27 doi: 10.1016/j.pmr.2023.06.024. PMID: 37993183
Idiopathic normal pressure hydrocephalus: historical context and a contemporary guide.
Carswell C
Pract Neurol 2023 Feb;23(1):15-22. Epub 2022 Sep 26 doi: 10.1136/pn-2021-003291. PMID: 36162853
Smartphone-assisted minimally invasive neurosurgery.
Mandel M, Petito CE, Tutihashi R, Paiva W, Abramovicz Mandel S, Gomes Pinto FC, Ferreira de Andrade A, Teixeira MJ, Figueiredo EG
J Neurosurg 2019 Jan 1;130(1):90-98. Epub 2018 Mar 13 doi: 10.3171/2017.6.JNS1712. PMID: 29529913
Paramesencephalic arachnoid cysts.
Grollmus JM, Wilson CB, Newton TH
Neurology 1976 Feb;26(2):128-34. doi: 10.1212/wnl.26.2.128. PMID: 943067

Recent systematic reviews

Shunting for idiopathic normal pressure hydrocephalus.
Pearce RKB, Gontsarova A, Richardson D, Methley AM, Watt HC, Tsang K, Carswell C
Cochrane Database Syst Rev 2024 Aug 6;8(8):CD014923. doi: 10.1002/14651858.CD014923.pub2. PMID: 39105473Free PMC Article
Surgery or Endovascular Treatment in Patients with Anterior Communicating Artery Aneurysm: A Systematic Review and Meta-Analysis.
Sattari SA, Shahbandi A, Lee RP, Feghali J, Rincon-Torroella J, Yang W, Abdulrahim M, Ahmadi S, So RJ, Hung A, Caplan JM, Gonzalez F, Tamargo RJ, Huang J, Xu R
World Neurosurg 2023 Jul;175:31-44. Epub 2023 Apr 1 doi: 10.1016/j.wneu.2023.03.111. PMID: 37011760
Communicating hydrocephalus after radiosurgery for vestibular schwannomas: does technique matter? A systematic review and meta-analysis.
De Sanctis P, Green S, Germano I
J Neurooncol 2019 Nov;145(2):365-373. Epub 2019 Oct 16 doi: 10.1007/s11060-019-03305-w. PMID: 31621039
Predictors of Shunt-dependent Hydrocephalus After Aneurysmal Subarachnoid Hemorrhage? A Systematic Review and Meta-Analysis.
Xie Z, Hu X, Zan X, Lin S, Li H, You C
World Neurosurg 2017 Oct;106:844-860.e6. Epub 2017 Jun 23 doi: 10.1016/j.wneu.2017.06.119. PMID: 28652120
Is endoscopic third ventriculostomy superior to shunts in patients with non-communicating hydrocephalus? A systematic review and meta-analysis of the evidence.
Rasul FT, Marcus HJ, Toma AK, Thorne L, Watkins LD
Acta Neurochir (Wien) 2013 May;155(5):883-9. Epub 2013 Mar 3 doi: 10.1007/s00701-013-1657-5. PMID: 23456239

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