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Visceral steatosis, congenital

MedGen UID:
90962
Concept ID:
C0341447
Pathologic Function
Synonyms: Fatal neonatal hepatic steatosis; FATTY LIVER DISEASE, CONGENITAL; Fatty metamorphosis of viscera; Steatosis of liver; Visceral steatosis; White liver disease
SNOMED CT: Fatty metamorphosis of viscera (270881008); Visceral steatosis (270881008); White liver disease (270881008)
 
Monarch Initiative: MONDO:0009220
OMIM®: 228100

Clinical features

From HPO
Coma
MedGen UID:
1054
Concept ID:
C0009421
Disease or Syndrome
Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.
Hypocalcemia
MedGen UID:
5705
Concept ID:
C0020598
Disease or Syndrome
An abnormally decreased calcium concentration in the blood.
Hypoglycemia
MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
A decreased concentration of glucose in the blood.
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Bilirubin encephalopathy
MedGen UID:
44018
Concept ID:
C0022610
Disease or Syndrome
Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction.
Lethargy
MedGen UID:
7310
Concept ID:
C0023380
Sign or Symptom
A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Abnormality of the genitourinary system
MedGen UID:
52948
Concept ID:
C0042063
Congenital Abnormality
The presence of any abnormality of the genitourinary system.
Abnormal bleeding
MedGen UID:
264316
Concept ID:
C1458140
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Hepatic steatosis
MedGen UID:
398225
Concept ID:
C2711227
Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Renal steatosis
MedGen UID:
867423
Concept ID:
C4021796
Disease or Syndrome
Abnormal fat accumulation in the kidneys.
Myocardial steatosis
MedGen UID:
870552
Concept ID:
C4025000
Finding
Steatosis in the myocardium.

Recent clinical studies

Etiology

Sant KE, Moreau HM, Williams LM, Jacobs HM, Bowsher AM, Boisvert JD, Smolowitz RM, Pantazis J, Annunziato K, Nguyen M, Timme-Laragy A
J Dev Orig Health Dis 2021 Feb;12(1):132-140. Epub 2020 Feb 17 doi: 10.1017/S2040174420000057. PMID: 32063256Free PMC Article
Dongiovanni P, Meroni M, Petta S, Longo M, Alisi A, Soardo G, Valenti L, Miele L, Grimaudo S, Pennisi G, Antonio G, Consonni D, Fargion S, Fracanzani AL
Biochim Biophys Acta Mol Cell Biol Lipids 2020 Oct;1865(10):158765. Epub 2020 Jul 11 doi: 10.1016/j.bbalip.2020.158765. PMID: 32663609
Meroni M, Longo M, Fracanzani AL, Dongiovanni P
EBioMedicine 2020 Jul;57:102866. Epub 2020 Jul 3 doi: 10.1016/j.ebiom.2020.102866. PMID: 32629394Free PMC Article
Nie YQ, Cao J, Zhou YJ, Liang X, Du YL, Wan YJ, Li YY
J Cell Biochem 2014 May;115(5):839-46. doi: 10.1002/jcb.24725. PMID: 24288170Free PMC Article
Markus MR, Baumeister SE, Stritzke J, Dörr M, Wallaschofski H, Völzke H, Lieb W
Arterioscler Thromb Vasc Biol 2013 Jul;33(7):1690-5. Epub 2013 May 16 doi: 10.1161/ATVBAHA.112.300556. PMID: 23685558

Diagnosis

Markus MR, Baumeister SE, Stritzke J, Dörr M, Wallaschofski H, Völzke H, Lieb W
Arterioscler Thromb Vasc Biol 2013 Jul;33(7):1690-5. Epub 2013 May 16 doi: 10.1161/ATVBAHA.112.300556. PMID: 23685558
Soma P, Ellemdin S
Cardiovasc J Afr 2012 Sep 12;23(8):e11-2. doi: 10.5830/CVJA-2012-033. PMID: 23044525
UTIAN HL, WAGNER JM, SICHEL RJ
Lancet 1964 Nov 14;2(7368):1043-5. doi: 10.1016/s0140-6736(64)90992-4. PMID: 14206017

Therapy

Sant KE, Moreau HM, Williams LM, Jacobs HM, Bowsher AM, Boisvert JD, Smolowitz RM, Pantazis J, Annunziato K, Nguyen M, Timme-Laragy A
J Dev Orig Health Dis 2021 Feb;12(1):132-140. Epub 2020 Feb 17 doi: 10.1017/S2040174420000057. PMID: 32063256Free PMC Article
Heindel JJ
Basic Clin Pharmacol Toxicol 2019 Aug;125 Suppl 3:5-13. Epub 2018 Sep 28 doi: 10.1111/bcpt.13118. PMID: 30265444

Prognosis

Markus MR, Baumeister SE, Stritzke J, Dörr M, Wallaschofski H, Völzke H, Lieb W
Arterioscler Thromb Vasc Biol 2013 Jul;33(7):1690-5. Epub 2013 May 16 doi: 10.1161/ATVBAHA.112.300556. PMID: 23685558
Soma P, Ellemdin S
Cardiovasc J Afr 2012 Sep 12;23(8):e11-2. doi: 10.5830/CVJA-2012-033. PMID: 23044525
UTIAN HL, WAGNER JM, SICHEL RJ
Lancet 1964 Nov 14;2(7368):1043-5. doi: 10.1016/s0140-6736(64)90992-4. PMID: 14206017

Clinical prediction guides

Nie YQ, Cao J, Zhou YJ, Liang X, Du YL, Wan YJ, Li YY
J Cell Biochem 2014 May;115(5):839-46. doi: 10.1002/jcb.24725. PMID: 24288170Free PMC Article
Markus MR, Baumeister SE, Stritzke J, Dörr M, Wallaschofski H, Völzke H, Lieb W
Arterioscler Thromb Vasc Biol 2013 Jul;33(7):1690-5. Epub 2013 May 16 doi: 10.1161/ATVBAHA.112.300556. PMID: 23685558

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