U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Severe hydrocephalus

MedGen UID:
479753
•Concept ID:
C3278123
•
Finding
Synonym: Hydrocephalus, severe
 
HPO: HP:0006882

Conditions with this feature

Hydrolethalus syndrome 1
MedGen UID:
343455
•Concept ID:
C1856016
•
Disease or Syndrome
Hydrolethalus-1 (HLS1) is an autosomal recessive lethal malformation syndrome characterized by hydrocephaly with absent upper midline structures of the brain, micrognathia, and polydactyly. Various other features such as cleft lip or palate, club feet, anomalies of the ears, eyes, and nose, keyhole-shaped defect in the occipital bone, abnormal genitalia, and congenital heart and respiratory organ defects have also been observed in affected individuals. Affected individuals are stillborn or die shortly after birth (summary by Mee et al., 2005). Genetic Heterogeneity of Hydrolethalus Syndrome See also HLS2 (614120), caused by mutation in the KIF7 gene (611254) on chromosome 15q26.
See: Condition Record
Hydrolethalus syndrome 1

Professional guidelines

PubMed

Perforation of cavum septi pellucidi in open spina bifida and need for hydrocephalus treatment by 1 year of age.
Sanz Cortes M, Johnson RM, Sangi-Haghpeykar H, Bedei I, Greenwood L, Nassr AA, Donepudi R, Whitehead W, Belfort M, Mehollin-Ray AR
Ultrasound Obstet Gynecol 2024 Jan;63(1):60-67. doi: 10.1002/uog.27480. PMID: 37698345
Management of posterior fossa tumors and hydrocephalus in children: a review.
Lin CT, Riva-Cambrin JK
Childs Nerv Syst 2015 Oct;31(10):1781-9. Epub 2015 Sep 9 doi: 10.1007/s00381-015-2781-8. PMID: 26351230
Posthemorrhagic hydrocephalus in high-risk preterm infants: natural history, management, and long-term outcome.
Dykes FD, Dunbar B, Lazarra A, Ahmann PA
J Pediatr 1989 Apr;114(4 Pt 1):611-8. doi: 10.1016/s0022-3476(89)80707-3. PMID: 2926574

Recent clinical studies

Etiology

Pediatric hydrocephalus outcomes in Lusaka, Zambia.
Reynolds RA, Bhebhe A, Garcia RM, Zhao S, Lam S, Sichizya K, Shannon CN
J Neurosurg Pediatr 2020 Dec 1;26(6):624-635. Epub 2020 Sep 11 doi: 10.3171/2020.5.PEDS20193. PMID: 32916646Free PMC Article
Association of Severe Hydrocephalus With Congenital Zika Syndrome.
van der Linden V, de Lima Petribu NC, Pessoa A, Faquini I, Paciorkowski AR, van der Linden H Jr, Silveira-Moriyama L, Cordeiro MT, Hazin AN, Barkovich AJ, Raybaud C, de Brito Abath M, Ribeiro E, Barros Jucá CE, Aragão MFVV, Coelho Travassos PT, Jungmann P
JAMA Neurol 2019 Feb 1;76(2):203-210. doi: 10.1001/jamaneurol.2018.3553. PMID: 30452526Free PMC Article
Management of posterior fossa tumors and hydrocephalus in children: a review.
Lin CT, Riva-Cambrin JK
Childs Nerv Syst 2015 Oct;31(10):1781-9. Epub 2015 Sep 9 doi: 10.1007/s00381-015-2781-8. PMID: 26351230
Absence of the septum pellucidum: a useful sign in the diagnosis of congenital brain malformations.
Barkovich AJ, Norman D
AJR Am J Roentgenol 1989 Feb;152(2):353-60. doi: 10.2214/ajr.152.2.353. PMID: 2783514
The natural history of subependymal germinal matrix hemorrhage.
Enzmann D, Murphy-Irwin K, Stevenson D, Ariagno R, Barton J, Sunshine P
Am J Perinatol 1985 Apr;2(2):123-33. doi: 10.1055/s-2007-999929. PMID: 3913430

Diagnosis

Prenatal diagnosis of severe hydrocephalus caused by fetal intracranial pineal gland tumors.
Lv B, Zheng A, Han L
Am J Obstet Gynecol 2024 Aug;231(2):283-284. Epub 2024 Feb 14 doi: 10.1016/j.ajog.2024.01.030. PMID: 38365099
Holoprosencephaly or severe hydrocephalus: T1 sequence tells the story.
Zarei F, Iranpour P, Haseli S
BMJ Case Rep 2019 May 8;12(5) doi: 10.1136/bcr-2018-228648. PMID: 31068345Free PMC Article
Complete migration of ventriculoperitoneal shunt into the ventricle.
Acharya R, Bhutani A, Saxena H, Madan VS
Neurol Sci 2002 Jun;23(2):75-7. doi: 10.1007/s100720200029. PMID: 12235495
Pachymeningitis luetica: a case report.
Joosten AA, Prevo RL, de Vos RA, Hendrix MG, Boomstra S, Jansen Steur EN
Clin Neurol Neurosurg 2000 Sep;102(3):176-9. doi: 10.1016/s0303-8467(00)00092-5. PMID: 10996719
Baller-Gerold syndrome associated with congenital hydrocephalus.
Lewis ME, Rosenbaum PL, Paes BA
Am J Med Genet 1991 Sep 1;40(3):307-10. doi: 10.1002/ajmg.1320400312. PMID: 1951434

Therapy

Effect of tolvaptan on hyponatremia in a dog with syndrome of inappropriate secretion of antidiuretic hormone.
Yamamoto H, Kimura K, Horikirizono H, Tamura Y, Kambayashi S, Baba K, Okuda M, Mizuno T, Igase M
J Vet Med Sci 2023 Oct 17;85(10):1047-1051. Epub 2023 Aug 16 doi: 10.1292/jvms.23-0243. PMID: 37587049Free PMC Article
Intraventricular ganglioglioma prognosis and hydrocephalus: the largest case series and systematic literature review.
Deling L, Nan J, Yongji T, Shuqing Y, Zhixian G, Jisheng W, Liwei Z
Acta Neurochir (Wien) 2013 Jul;155(7):1253-60. Epub 2013 May 3 doi: 10.1007/s00701-013-1728-7. PMID: 23640526
Fatal outcome related to carmustine implants in glioblastoma multiforme.
Gallego JM, Barcia JA, Barcia-Mariño C
Acta Neurochir (Wien) 2007 Mar;149(3):261-5; discussion 265. Epub 2007 Feb 28 doi: 10.1007/s00701-006-1097-6. PMID: 17334672
Complete migration of ventriculoperitoneal shunt into the ventricle.
Acharya R, Bhutani A, Saxena H, Madan VS
Neurol Sci 2002 Jun;23(2):75-7. doi: 10.1007/s100720200029. PMID: 12235495
Pachymeningitis luetica: a case report.
Joosten AA, Prevo RL, de Vos RA, Hendrix MG, Boomstra S, Jansen Steur EN
Clin Neurol Neurosurg 2000 Sep;102(3):176-9. doi: 10.1016/s0303-8467(00)00092-5. PMID: 10996719

Prognosis

Management of posterior fossa tumors and hydrocephalus in children: a review.
Lin CT, Riva-Cambrin JK
Childs Nerv Syst 2015 Oct;31(10):1781-9. Epub 2015 Sep 9 doi: 10.1007/s00381-015-2781-8. PMID: 26351230
Hydranencephaly: cerebral spinal fluid instead of cerebral mantles.
Pavone P, Praticò AD, Vitaliti G, Ruggieri M, Rizzo R, Parano E, Pavone L, Pero G, Falsaperla R
Ital J Pediatr 2014 Oct 18;40:79. doi: 10.1186/s13052-014-0079-1. PMID: 25326191Free PMC Article
Pilomyxoid astrocytoma of the cerebellum with Williams syndrome: a case report.
Chonan M, Kanamori M, Kumabe T, Saito R, Watanabe M, Tominaga T
Childs Nerv Syst 2013 Jul;29(7):1211-4. Epub 2013 Apr 20 doi: 10.1007/s00381-013-2107-7. PMID: 23604363
Pachymeningitis luetica: a case report.
Joosten AA, Prevo RL, de Vos RA, Hendrix MG, Boomstra S, Jansen Steur EN
Clin Neurol Neurosurg 2000 Sep;102(3):176-9. doi: 10.1016/s0303-8467(00)00092-5. PMID: 10996719
Sweat function in babies with defects of the central nervous system.
Foster KG, Hey EN, O'Connell B
Arch Dis Child 1971 Aug;46(248):444-51. doi: 10.1136/adc.46.248.444. PMID: 4935620Free PMC Article

Clinical prediction guides

Pediatric hydrocephalus outcomes in Lusaka, Zambia.
Reynolds RA, Bhebhe A, Garcia RM, Zhao S, Lam S, Sichizya K, Shannon CN
J Neurosurg Pediatr 2020 Dec 1;26(6):624-635. Epub 2020 Sep 11 doi: 10.3171/2020.5.PEDS20193. PMID: 32916646Free PMC Article
Effects of aging on hydrocephalus after intraventricular hemorrhage.
Wan Y, Gao F, Ye F, Yang W, Hua Y, Keep RF, Xi G
Fluids Barriers CNS 2020 Feb 28;17(1):8. doi: 10.1186/s12987-020-0169-y. PMID: 32106865Free PMC Article
Management of posterior fossa tumors and hydrocephalus in children: a review.
Lin CT, Riva-Cambrin JK
Childs Nerv Syst 2015 Oct;31(10):1781-9. Epub 2015 Sep 9 doi: 10.1007/s00381-015-2781-8. PMID: 26351230
A human laterality disorder associated with a homozygous WDR16 deletion.
Ta-Shma A, Perles Z, Yaacov B, Werner M, Frumkin A, Rein AJ, Elpeleg O
Eur J Hum Genet 2015 Sep;23(9):1262-5. Epub 2014 Dec 3 doi: 10.1038/ejhg.2014.265. PMID: 25469542Free PMC Article
Intraventricular ganglioglioma prognosis and hydrocephalus: the largest case series and systematic literature review.
Deling L, Nan J, Yongji T, Shuqing Y, Zhixian G, Jisheng W, Liwei Z
Acta Neurochir (Wien) 2013 Jul;155(7):1253-60. Epub 2013 May 3 doi: 10.1007/s00701-013-1728-7. PMID: 23640526

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...