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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

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
Surgical management of adult hydrocephalus.
Bergsneider M, Miller C, Vespa PM, Hu X
Neurosurgery 2008 Feb;62 Suppl 2:643-59; discussion 659-60. doi: 10.1227/01.neu.0000316269.82467.f7. PMID: 18596440

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
Communicating Hydrocephalus Following Treatment of Cerebellopontine Angle Tumors.
Kim J, Woo B, Ji S, Hwang K, Kim YH, Han JH, Kim CY
World Neurosurg 2022 Sep;165:e505-e511. Epub 2022 Jun 26 doi: 10.1016/j.wneu.2022.06.088. PMID: 35760327
New concept of the pathogenesis and therapeutic orientation of acquired communicating hydrocephalus.
Xu H
Neurol Sci 2016 Sep;37(9):1387-91. Epub 2016 Apr 26 doi: 10.1007/s10072-016-2589-7. PMID: 27115894
Hydrocephalus with brain tumors in children.
Wong TT, Liang ML, Chen HH, Chang FC
Childs Nerv Syst 2011 Oct;27(10):1723-34. Epub 2011 Sep 17 doi: 10.1007/s00381-011-1523-9. PMID: 21928036
Multiloculated hydrocephalus.
Zuccaro G, Ramos JG
Childs Nerv Syst 2011 Oct;27(10):1609-19. Epub 2011 Sep 17 doi: 10.1007/s00381-011-1528-4. PMID: 21928027

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
Communicating chronic hydrocephalus: A review.
Roblot P, Mollier O, Ollivier M, Gallice T, Planchon C, Gimbert E, Danet M, Renault S, Auzou N, Laurens B, Jecko V
Rev Med Interne 2021 Nov;42(11):781-788. Epub 2021 Jun 16 doi: 10.1016/j.revmed.2021.05.018. PMID: 34144842
Multiloculated hydrocephalus.
Zuccaro G, Ramos JG
Childs Nerv Syst 2011 Oct;27(10):1609-19. Epub 2011 Sep 17 doi: 10.1007/s00381-011-1528-4. PMID: 21928027
Mucopolysaccharidosis VI.
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
Orphanet J Rare Dis 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. PMID: 20385007Free PMC Article

Therapy

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
Communicating Hydrocephalus Following Treatment of Cerebellopontine Angle Tumors.
Kim J, Woo B, Ji S, Hwang K, Kim YH, Han JH, Kim CY
World Neurosurg 2022 Sep;165:e505-e511. Epub 2022 Jun 26 doi: 10.1016/j.wneu.2022.06.088. PMID: 35760327
Safety Analysis of Simultaneous Cranioplasty and Ventriculoperitoneal Shunt Placement.
Zhang X, Fang X, Gao A, Guan D, Guo C, Wang S, Chen Y, Zhao B, Yang K, Hu E, Liang H, Hu F
Turk Neurosurg 2022;32(2):195-203. doi: 10.5137/1019-5149.JTN.30740-20.2. PMID: 33759166
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
Surgical management of adult hydrocephalus.
Bergsneider M, Miller C, Vespa PM, Hu X
Neurosurgery 2008 Feb;62 Suppl 2:643-59; discussion 659-60. doi: 10.1227/01.neu.0000316269.82467.f7. PMID: 18596440

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
Hydrocephalus Associated with Posterior Fossa Tumors: How to Manage Effectively?
Muthukumar N
Neurol India 2021 Nov-Dec;69(Supplement):S342-S349. doi: 10.4103/0028-3886.332260. PMID: 35102986
Magnetic Resonance Imaging of Normal Pressure Hydrocephalus.
Bradley WG Jr
Semin Ultrasound CT MR 2016 Apr;37(2):120-8. Epub 2016 Jan 20 doi: 10.1053/j.sult.2016.01.005. PMID: 27063662
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
Mucopolysaccharidosis VI.
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
Orphanet J Rare Dis 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. PMID: 20385007Free PMC Article

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
Hydrocephalus in Neurosarcoidosis: Clinical Course, Radiographic Accompaniments, and Experience with Shunting.
El Sammak S, Lec BM, Bou GA, Wagstaff WV, Lawson EC, Hutto SK
Mult Scler Relat Disord 2023 Nov;79:105040. Epub 2023 Sep 28 doi: 10.1016/j.msard.2023.105040. PMID: 37783195
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
Magnetic Resonance Imaging of Normal Pressure Hydrocephalus.
Bradley WG Jr
Semin Ultrasound CT MR 2016 Apr;37(2):120-8. Epub 2016 Jan 20 doi: 10.1053/j.sult.2016.01.005. PMID: 27063662

Recent systematic reviews

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
Endoscopic third ventriculostomy (ETV) for idiopathic normal pressure hydrocephalus (iNPH).
Tudor KI, Tudor M, McCleery J, Car J
Cochrane Database Syst Rev 2015 Jul 29;2015(7):CD010033. doi: 10.1002/14651858.CD010033.pub2. PMID: 26222251Free PMC Article
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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