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Chronic bilirubin encephalopathy

MedGen UID:
1806573
Concept ID:
C5575229
Disease or Syndrome
Synonyms: Bilirubin-induced neurological dysfunction; BIND; BIND - bilirubin-induced neurological dysfunction; CBE; chronic bilirubin encephalopathy; Kernicterus spectrum disorder; KSD
SNOMED CT: Bilirubin-induced neurological dysfunction (1197758001); BIND - bilirubin-induced neurological dysfunction (1197758001); Chronic bilirubin encephalopathy (1197758001); Kernicterus spectrum disorder (1197758001)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0035345
Orphanet: ORPHA529808

Definition

A rare neurologic disease with characteristics of the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder and oculomotor and dental abnormalities. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChronic bilirubin encephalopathy

Professional guidelines

PubMed

Horn D, Ehret D, Gautham KS, Soll R
Cochrane Database Syst Rev 2021 Jul 6;7(7):CD013277. doi: 10.1002/14651858.CD013277.pub2. PMID: 34228352Free PMC Article
Bhardwaj K, Locke T, Biringer A, Booth A, Darling EK, Dougan S, Harrison J, Hill S, Johnson A, Makin S, Potter B, Lacaze-Masmonteil T, Little J
Curr Pediatr Rev 2017;13(1):67-90. doi: 10.2174/1573396313666170110144345. PMID: 28071585
Muchowski KE
Am Fam Physician 2014 Jun 1;89(11):873-8. PMID: 25077393

Recent clinical studies

Etiology

Horn D, Ehret D, Gautham KS, Soll R
Cochrane Database Syst Rev 2021 Jul 6;7(7):CD013277. doi: 10.1002/14651858.CD013277.pub2. PMID: 34228352Free PMC Article
Bhardwaj K, Locke T, Biringer A, Booth A, Darling EK, Dougan S, Harrison J, Hill S, Johnson A, Makin S, Potter B, Lacaze-Masmonteil T, Little J
Curr Pediatr Rev 2017;13(1):67-90. doi: 10.2174/1573396313666170110144345. PMID: 28071585
Wisnowski JL, Panigrahy A, Painter MJ, Watchko JF
Semin Perinatol 2014 Nov;38(7):422-8. Epub 2014 Sep 27 doi: 10.1053/j.semperi.2014.08.005. PMID: 25267277Free PMC Article
Muchowski KE
Am Fam Physician 2014 Jun 1;89(11):873-8. PMID: 25077393
Trikalinos TA, Chung M, Lau J, Ip S
Pediatrics 2009 Oct;124(4):1162-71. Epub 2009 Sep 28 doi: 10.1542/peds.2008-3545. PMID: 19786450

Diagnosis

Horn D, Ehret D, Gautham KS, Soll R
Cochrane Database Syst Rev 2021 Jul 6;7(7):CD013277. doi: 10.1002/14651858.CD013277.pub2. PMID: 34228352Free PMC Article
Morioka I
Pediatr Int 2018 Aug;60(8):684-690. doi: 10.1111/ped.13635. PMID: 29906300
Muchowski KE
Am Fam Physician 2014 Jun 1;89(11):873-8. PMID: 25077393
Shapiro SM
Semin Fetal Neonatal Med 2010 Jun;15(3):157-63. Epub 2010 Jan 29 doi: 10.1016/j.siny.2009.12.004. PMID: 20116355
Trikalinos TA, Chung M, Lau J, Ip S
Pediatrics 2009 Oct;124(4):1162-71. Epub 2009 Sep 28 doi: 10.1542/peds.2008-3545. PMID: 19786450

Therapy

Horn D, Ehret D, Gautham KS, Soll R
Cochrane Database Syst Rev 2021 Jul 6;7(7):CD013277. doi: 10.1002/14651858.CD013277.pub2. PMID: 34228352Free PMC Article
Armanian AM, Jahanfar S, Feizi A, Salehimehr N, Molaeinezhad M, Sadeghi E
Cochrane Database Syst Rev 2019 Aug 13;8(8):CD012731. doi: 10.1002/14651858.CD012731.pub2. PMID: 31425619Free PMC Article
Morioka I
Pediatr Int 2018 Aug;60(8):684-690. doi: 10.1111/ped.13635. PMID: 29906300
Muchowski KE
Am Fam Physician 2014 Jun 1;89(11):873-8. PMID: 25077393

Prognosis

Horn D, Ehret D, Gautham KS, Soll R
Cochrane Database Syst Rev 2021 Jul 6;7(7):CD013277. doi: 10.1002/14651858.CD013277.pub2. PMID: 34228352Free PMC Article
Bhardwaj K, Locke T, Biringer A, Booth A, Darling EK, Dougan S, Harrison J, Hill S, Johnson A, Makin S, Potter B, Lacaze-Masmonteil T, Little J
Curr Pediatr Rev 2017;13(1):67-90. doi: 10.2174/1573396313666170110144345. PMID: 28071585
Sgro M, Campbell DM, Kandasamy S, Shah V
Pediatrics 2012 Oct;130(4):e886-90. Epub 2012 Sep 10 doi: 10.1542/peds.2012-0253. PMID: 22966025
Ebbesen F, Bjerre JV, Vandborg PK
Acta Paediatr 2012 Apr;101(4):384-9. Epub 2012 Jan 23 doi: 10.1111/j.1651-2227.2011.02565.x. PMID: 22176133
Trikalinos TA, Chung M, Lau J, Ip S
Pediatrics 2009 Oct;124(4):1162-71. Epub 2009 Sep 28 doi: 10.1542/peds.2008-3545. PMID: 19786450

Clinical prediction guides

Okuno K, Kitai Y, Shibata T, Arai H
J Orthop Surg (Hong Kong) 2021 Jan-Apr;29(1):23094990211001196. doi: 10.1177/23094990211001196. PMID: 33745368
El Houchi SZ, Iskander I, Gamaleldin R, El Shenawy A, Seoud I, Abou-Youssef H, Wennberg RP
J Pediatr 2017 Apr;183:51-55.e1. Epub 2017 Jan 25 doi: 10.1016/j.jpeds.2016.12.079. PMID: 28131490
Bhardwaj K, Locke T, Biringer A, Booth A, Darling EK, Dougan S, Harrison J, Hill S, Johnson A, Makin S, Potter B, Lacaze-Masmonteil T, Little J
Curr Pediatr Rev 2017;13(1):67-90. doi: 10.2174/1573396313666170110144345. PMID: 28071585
Muchowski KE
Am Fam Physician 2014 Jun 1;89(11):873-8. PMID: 25077393
Trikalinos TA, Chung M, Lau J, Ip S
Pediatrics 2009 Oct;124(4):1162-71. Epub 2009 Sep 28 doi: 10.1542/peds.2008-3545. PMID: 19786450

Recent systematic reviews

Horn D, Ehret D, Gautham KS, Soll R
Cochrane Database Syst Rev 2021 Jul 6;7(7):CD013277. doi: 10.1002/14651858.CD013277.pub2. PMID: 34228352Free PMC Article
Armanian AM, Jahanfar S, Feizi A, Salehimehr N, Molaeinezhad M, Sadeghi E
Cochrane Database Syst Rev 2019 Aug 13;8(8):CD012731. doi: 10.1002/14651858.CD012731.pub2. PMID: 31425619Free PMC Article
Trikalinos TA, Chung M, Lau J, Ip S
Pediatrics 2009 Oct;124(4):1162-71. Epub 2009 Sep 28 doi: 10.1542/peds.2008-3545. PMID: 19786450

Supplemental Content

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