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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

CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation.
Chen YJ, Wang WJ, Zou DF, Luo JX, Jin PY, Jin L, Liu XR, Liao WP, Li B, Chen YJ; China Epilepsy Gene 1.0 Project
Clin Genet 2024 Apr;105(4):397-405. Epub 2024 Jan 3 doi: 10.1111/cge.14476. PMID: 38173219
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
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
Loculated hydrocephalus: is neuroendoscopy effective and safe? A 90 patients' case series and literature review.
Noris A, Giordano F, Peraio S, Lenge M, Mura R, Macconi L, Barzaghi R, Genitori L
Childs Nerv Syst 2023 Mar;39(3):711-720. Epub 2022 Nov 29 doi: 10.1007/s00381-022-05747-6. PMID: 36443473Free PMC Article
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
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
Endoscopic third ventriculostomy.
Jones RF, Stening WA, Brydon M
Neurosurgery 1990 Jan;26(1):86-91; discussion 91-2. doi: 10.1097/00006123-199001000-00012. PMID: 2294483

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

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
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
Hydrocephalus in patients with vestibular schwannoma.
Fairhead R, Harris L, Shoakazemi A, Pollock J
Acta Neurochir (Wien) 2023 Dec;165(12):4169-4174. Epub 2023 Nov 8 doi: 10.1007/s00701-023-05866-2. PMID: 37935949
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
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

CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation.
Chen YJ, Wang WJ, Zou DF, Luo JX, Jin PY, Jin L, Liu XR, Liao WP, Li B, Chen YJ; China Epilepsy Gene 1.0 Project
Clin Genet 2024 Apr;105(4):397-405. Epub 2024 Jan 3 doi: 10.1111/cge.14476. PMID: 38173219
Hydrocephalus in patients with vestibular schwannoma.
Fairhead R, Harris L, Shoakazemi A, Pollock J
Acta Neurochir (Wien) 2023 Dec;165(12):4169-4174. Epub 2023 Nov 8 doi: 10.1007/s00701-023-05866-2. PMID: 37935949
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
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 patients with vestibular schwannoma.
Fairhead R, Harris L, Shoakazemi A, Pollock J
Acta Neurochir (Wien) 2023 Dec;165(12):4169-4174. Epub 2023 Nov 8 doi: 10.1007/s00701-023-05866-2. PMID: 37935949
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

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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