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Intraventricular hemorrhage

MedGen UID:
116096
Concept ID:
C0240059
Pathologic Function
Synonyms: Intraventricular Brain Hemorrhage; Intraventricular haemorrhage; IVH - intraventricular hemorrhage; Ventricular hemorrhage
SNOMED CT: IVH - intraventricular hemorrhage (23276006); Ventricular hemorrhage (23276006); Intraventricular hemorrhage (23276006)
 
HPO: HP:0030746

Definition

Bleeding into the ventricles of the brain. [from HPO]

Conditions with this feature

Chromosome 4Q32.1-q32.2 triplication syndrome
MedGen UID:
462207
Concept ID:
C3150857
Disease or Syndrome
Osteogenesis imperfecta type 17
MedGen UID:
903845
Concept ID:
C4225301
Disease or Syndrome
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.\n\nThe milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma, such as falling while learning to walk. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and about half develop hearing loss in adulthood. Unlike more severely affected individuals, people with type I are usually of normal or near normal height.\n\nOther types of osteogenesis imperfecta are more severe, causing frequent bone fractures that are present at birth and result from little or no trauma. Additional features of these types can include blue sclerae of the eyes, short stature, curvature of the spine (scoliosis), joint deformities (contractures), hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta. Mobility can be reduced in affected individuals, and some may use a walker or wheelchair. The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities may have life-threatening problems with breathing and can die shortly after birth.\n\nThere are at least 19 recognized forms of osteogenesis imperfecta, designated type I through type XIX. Several types are distinguished by their signs and symptoms, although their characteristic features overlap. Increasingly, genetic causes are used to define rarer forms of osteogenesis imperfecta. Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form of osteogenesis imperfecta. Type II (also known as perinatally lethal osteogenesis imperfecta) is the most severe. Other types of this condition, including types III (progressively deforming osteogenesis imperfecta) and IV (common variable osteogenesis imperfecta with normal sclerae), have signs and symptoms that fall somewhere between these two extremes.
Mitochondrial complex 4 deficiency, nuclear type 12
MedGen UID:
1745691
Concept ID:
C5436695
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 12 (MC4DN12) is an autosomal recessive metabolic disorder characterized by the onset of neurologic dysfunction in early infancy. Affected individuals demonstrate hypotonia with poor head control, profoundly delayed global development with inability to fix and follow, poor overall growth, abnormal spasms or myoclonus, and seizures. Most patients die in the first years of life; those that survive have spastic quadriplegia, feeding difficulties necessitating tube feeding, and profoundly impaired intellectual development with poor or absent communication. More variable features include cortical blindness, nystagmus, scoliosis, and hearing impairment. Brain imaging shows abnormalities consistent with Leigh syndrome (see 256000), as well as cystic cavitation. Laboratory studies show lactic acidosis, increased serum creatine kinase, and decreased levels and activity of mitochondrial respiratory complex IV (summary by Lim et al., 2014). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.
Combined oxidative phosphorylation defect type 25
MedGen UID:
1799165
Concept ID:
C5567742
Disease or Syndrome
A rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activity. Characteristics of this disease hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.

Professional guidelines

PubMed

Lamary M, Bertoni CB, Schwabenbauer K, Ibrahim J
Curr Opin Pediatr 2023 Apr 1;35(2):209-217. Epub 2023 Feb 1 doi: 10.1097/MOP.0000000000001224. PMID: 36722754
Chung DY, Olson DM, John S, Mohamed W, Kumar MA, Thompson BB, Rordorf GA
Curr Neurol Neurosci Rep 2019 Nov 26;19(12):94. doi: 10.1007/s11910-019-1009-9. PMID: 31773310Free PMC Article
Hemphill JC 3rd, Greenberg SM, Anderson CS, Becker K, Bendok BR, Cushman M, Fung GL, Goldstein JN, Macdonald RL, Mitchell PH, Scott PA, Selim MH, Woo D; American Heart Association Stroke Council; Council on Cardiovascular and Stroke Nursing; Council on Clinical Cardiology
Stroke 2015 Jul;46(7):2032-60. Epub 2015 May 28 doi: 10.1161/STR.0000000000000069. PMID: 26022637

Recent clinical studies

Etiology

Horbar JD, Greenberg LT, Buzas JS, Ehret DEY, Soll RF, Edwards EM
Pediatrics 2024 Jan 1;153(1) doi: 10.1542/peds.2023-064153. PMID: 38053449
Kolnik SE, Upadhyay K, Wood TR, Juul SE, Valentine GC
Pediatrics 2023 Sep 1;152(3) doi: 10.1542/peds.2021-056104. PMID: 37609772
Giesinger RE, Rios DR, Chatmethakul T, Bischoff AR, Sandgren JA, Cunningham A, Beauchene M, Stanford AH, Klein JM, Ten Eyck P, McNamara PJ
Am J Respir Crit Care Med 2023 Aug 1;208(3):290-300. doi: 10.1164/rccm.202212-2291OC. PMID: 37209133Free PMC Article
Holste KG, Xia F, Ye F, Keep RF, Xi G
Fluids Barriers CNS 2022 Apr 1;19(1):28. doi: 10.1186/s12987-022-00324-0. PMID: 35365172Free PMC Article
Katheria A, Reister F, Essers J, Mendler M, Hummler H, Subramaniam A, Carlo W, Tita A, Truong G, Davis-Nelson S, Schmölzer G, Chari R, Kaempf J, Tomlinson M, Yanowitz T, Beck S, Simhan H, Dempsey E, O'Donoghue K, Bhat S, Hoffman M, Faksh A, Arnell K, Rich W, Finer N, Vaucher Y, Khanna P, Meyers M, Varner M, Allman P, Szychowski J, Cutter G
JAMA 2019 Nov 19;322(19):1877-1886. doi: 10.1001/jama.2019.16004. PMID: 31742630Free PMC Article

Diagnosis

Giesinger RE, Hobson AA, Bischoff AR, Klein JM, McNamara PJ
Semin Perinatol 2023 Mar;47(2):151721. Epub 2023 Mar 5 doi: 10.1016/j.semperi.2023.151721. PMID: 36882362
Nayak N, Sankhla SK
Neurol India 2021 Nov-Dec;69(Supplement):S313-S319. doi: 10.4103/0028-3886.332257. PMID: 35102982
Al-Kawaz MN, Hanley DF, Ziai W
Neurotherapeutics 2020 Oct;17(4):1757-1767. doi: 10.1007/s13311-020-00902-w. PMID: 32720246Free PMC Article
Furie KL, Wong KS
J Neurol Neurosurg Psychiatry 2017 Jan;88(1):1. doi: 10.1136/jnnp-2016-315210. PMID: 27980045
Papile LA, Burstein J, Burstein R, Koffler H
J Pediatr 1978 Apr;92(4):529-34. doi: 10.1016/s0022-3476(78)80282-0. PMID: 305471

Therapy

Hellström A, Nilsson AK, Wackernagel D, Pivodic A, Vanpee M, Sjöbom U, Hellgren G, Hallberg B, Domellöf M, Klevebro S, Hellström W, Andersson M, Lund AM, Löfqvist C, Elfvin A, Sävman K, Hansen-Pupp I, Hård AL, Smith LEH, Ley D
JAMA Pediatr 2021 Apr 1;175(4):359-367. doi: 10.1001/jamapediatrics.2020.5653. PMID: 33523106Free PMC Article
Al-Kawaz MN, Hanley DF, Ziai W
Neurotherapeutics 2020 Oct;17(4):1757-1767. doi: 10.1007/s13311-020-00902-w. PMID: 32720246Free PMC Article
Mitra S, Florez ID, Tamayo ME, Mbuagbaw L, Vanniyasingam T, Veroniki AA, Zea AM, Zhang Y, Sadeghirad B, Thabane L
JAMA 2018 Mar 27;319(12):1221-1238. doi: 10.1001/jama.2018.1896. PMID: 29584842Free PMC Article
Fogarty M, Osborn DA, Askie L, Seidler AL, Hunter K, Lui K, Simes J, Tarnow-Mordi W
Am J Obstet Gynecol 2018 Jan;218(1):1-18. Epub 2017 Oct 30 doi: 10.1016/j.ajog.2017.10.231. PMID: 29097178
Hanley DF, Lane K, McBee N, Ziai W, Tuhrim S, Lees KR, Dawson J, Gandhi D, Ullman N, Mould WA, Mayo SW, Mendelow AD, Gregson B, Butcher K, Vespa P, Wright DW, Kase CS, Carhuapoma JR, Keyl PM, Diener-West M, Muschelli J, Betz JF, Thompson CB, Sugar EA, Yenokyan G, Janis S, John S, Harnof S, Lopez GA, Aldrich EF, Harrigan MR, Ansari S, Jallo J, Caron JL, LeDoux D, Adeoye O, Zuccarello M, Adams HP Jr, Rosenblum M, Thompson RE, Awad IA; CLEAR III Investigators
Lancet 2017 Feb 11;389(10069):603-611. Epub 2017 Jan 10 doi: 10.1016/S0140-6736(16)32410-2. PMID: 28081952Free PMC Article

Prognosis

Horbar JD, Greenberg LT, Buzas JS, Ehret DEY, Soll RF, Edwards EM
Pediatrics 2024 Jan 1;153(1) doi: 10.1542/peds.2023-064153. PMID: 38053449
Cohen S, Flibotte J
Clin Perinatol 2022 Mar;49(1):15-25. Epub 2022 Jan 21 doi: 10.1016/j.clp.2021.11.002. PMID: 35209998
Cao Y, Jiang S, Sun J, Hei M, Wang L, Zhang H, Ma X, Wu H, Li X, Sun H, Zhou W, Shi Y, Wang Y, Gu X, Yang T, Lu Y, Du L, Chen C, Lee SK, Zhou W; Chinese Neonatal Network
JAMA Netw Open 2021 Aug 2;4(8):e2118904. doi: 10.1001/jamanetworkopen.2021.18904. PMID: 34338792Free PMC Article
Jensen EA, Edwards EM, Greenberg LT, Soll RF, Ehret DEY, Horbar JD
Pediatrics 2021 Jul;148(1) Epub 2021 Jun 2 doi: 10.1542/peds.2020-030007. PMID: 34078747Free PMC Article
Ancel PY, Goffinet F; EPIPAGE-2 Writing Group, Kuhn P, Langer B, Matis J, Hernandorena X, Chabanier P, Joly-Pedespan L, Lecomte B, Vendittelli F, Dreyfus M, Guillois B, Burguet A, Sagot P, Sizun J, Beuchée A, Rouget F, Favreau A, Saliba E, Bednarek N, Morville P, Thiriez G, Marpeau L, Marret S, Kayem G, Durrmeyer X, Granier M, Baud O, Jarreau PH, Mitanchez D, Boileau P, Boulot P, Cambonie G, Daudé H, Bédu A, Mons F, Fresson J, Vieux R, Alberge C, Arnaud C, Vayssière C, Truffert P, Pierrat V, Subtil D, D'Ercole C, Gire C, Simeoni U, Bongain A, Sentilhes L, Rozé JC, Gondry J, Leke A, Deiber M, Claris O, Picaud JC, Ego A, Debillon T, Poulichet A, Coliné E, Favre A, Fléchelles O, Samperiz S, Ramful D, Branger B, Benhammou V, Foix-L'Hélias L, Marchand-Martin L, Kaminski M
JAMA Pediatr 2015 Mar;169(3):230-8. doi: 10.1001/jamapediatrics.2014.3351. PMID: 25621457

Clinical prediction guides

Lv XN, Cheng J, Liu XY, Liu JC, Deng L, Li ZQ, Pu MJ, Chen C, Li Q
J Am Heart Assoc 2023 Nov 7;12(21):e031214. Epub 2023 Oct 18 doi: 10.1161/JAHA.123.031214. PMID: 37850494Free PMC Article
Scurfield AK, Wilson MD, Gurkoff G, Martin R, Shahlaie K
Neurocrit Care 2023 Feb;38(1):149-157. Epub 2022 Sep 1 doi: 10.1007/s12028-022-01587-z. PMID: 36050537Free PMC Article
Robles LA, Volovici V
Neurosurg Rev 2022 Jun;45(3):2013-2026. Epub 2022 Feb 20 doi: 10.1007/s10143-022-01758-8. PMID: 35184233
Frontera JA, Claassen J, Schmidt JM, Wartenberg KE, Temes R, Connolly ES Jr, MacDonald RL, Mayer SA
Neurosurgery 2006 Jul;59(1):21-7; discussion 21-7. doi: 10.1227/01.neu.0000243277.86222.6c. PMID: 16823296
Hemphill JC 3rd, Bonovich DC, Besmertis L, Manley GT, Johnston SC
Stroke 2001 Apr;32(4):891-7. doi: 10.1161/01.str.32.4.891. PMID: 11283388

Recent systematic reviews

Starr MC, Charlton JR, Guillet R, Reidy K, Tipple TE, Jetton JG, Kent AL, Abitbol CL, Ambalavanan N, Mhanna MJ, Askenazi DJ, Selewski DT, Harer MW; Neonatal Kidney Collaborative Board
Pediatrics 2021 Nov;148(5) Epub 2021 Oct 1 doi: 10.1542/peds.2021-051220. PMID: 34599008
Jasani B, Torgalkar R, Ye XY, Syed S, Shah PS
JAMA Pediatr 2021 Apr 1;175(4):e210102. Epub 2021 Apr 5 doi: 10.1001/jamapediatrics.2021.0102. PMID: 33683307Free PMC Article
McGoldrick E, Stewart F, Parker R, Dalziel SR
Cochrane Database Syst Rev 2020 Dec 25;12(12):CD004454. doi: 10.1002/14651858.CD004454.pub4. PMID: 33368142Free PMC Article
Mitra S, Florez ID, Tamayo ME, Mbuagbaw L, Vanniyasingam T, Veroniki AA, Zea AM, Zhang Y, Sadeghirad B, Thabane L
JAMA 2018 Mar 27;319(12):1221-1238. doi: 10.1001/jama.2018.1896. PMID: 29584842Free PMC Article
Fogarty M, Osborn DA, Askie L, Seidler AL, Hunter K, Lui K, Simes J, Tarnow-Mordi W
Am J Obstet Gynecol 2018 Jan;218(1):1-18. Epub 2017 Oct 30 doi: 10.1016/j.ajog.2017.10.231. PMID: 29097178

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