Down syndrome

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

Hepatosplenomegaly

Simultaneous enlargement of the liver and spleen.


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PMID (PMCID)
24353262
 FEMALE Infant, Newborn
Elevated delta OD 450 due to transient abnormal myelopoiesis in a Down syndrome fetus with hepatosplenomegaly on ultrasound.
Mancuso A, Rijhsinghani A.
Prenat Diagn. 2014;34(3):299-301.
Transient abnormal myelopoiesis (TAM) is a relatively common finding in children with Down syndrome but has also been diagnosed prenatally, most often presenting with fetal hepatosplenomegaly.
23949872
 FEMALE Infant, Newborn
Vesiculopustular eruption in neonatal transient myeloproliferative disorder.
Nar I, Surmeli-Onay O, Aytac S, Talim B, Kiper PO, Boduroglu K, Yurdakok M.
Indian J Pediatr. 2014;81(4):391-3.
Transient myeloproliferative disorder (TMD) typically presents with pancytopenia, hepatosplenomegaly, and immature circulating white blood cells, and affects approximately 10 % of neonates with Down syndrome.
20692111
 FEMALE Adult
[Fetal hepatosplenomegaly in the third trimester: A sign of leukemia in fetuses with Down syndrome].
Fouche C, Ramos A, Esperandieu O, Briault S, Martin JG, Desroches A.
J Gynecol Obstet Biol Reprod (Paris). 2010;39(8):667-71.
[Fetal hepatosplenomegaly in the third trimester: A sign of leukemia in fetuses with Down syndrome].
19270866
(2651437)
 FEMALE Adult
Prenatal diagnosis of transient abnormal myelopoiesis in a Down syndrome fetus.
Kim GJ, Lee ES.
Korean J Radiol. 2009;10(2):190-3.
Fetal hepatosplenomegaly with cerebral ventriculomegaly, although not specific, may be a suggestive finding of Down syndrome with transient abnormal myelopoiesis.
19537279
 FEMALE Infant, Newborn
Vesiculopustular eruption associated with transient myeloproliferative disorder.
Nornhold E, Li A, Rothman IL, Lakshminrusimha S, Helm TN.
Cutis. 2009;83(5):234-6.
Transient myeloproliferative disorder typically presents with pancytopenia, hepatosplenomegaly, and immature circulating white blood cells, and affects approximately 10% of neonates with Down syndrome.
15229921
 FEMALE Infant, Newborn
Is the degree of fetal hepatosplenomegaly with transient abnormal myelopoiesis closely related to the postnatal severity of hematological abnormalities in Down syndrome?
Ogawa M, Hosoya N, Sato A, Tanaka T.
Ultrasound Obstet Gynecol. 2004;24(1):83-5.
Our experience raises the question of whether fetal hepatosplenomegaly is a predictor of transient myeloproliferative disorder with trisomy 21 and whether the degree of fetal hepatomegaly is a marker for the neonatal severity of hematological abnormalities.
15255354
 FEMALE
[Early diagnosis of leukaemia in the trisomic child. Congolese experience based on two cases].
Mouko A, Nkanta-Etokabeka F, Senga P.
Bull Soc Pathol Exot. 2004;97(2):115-6.
Therefore, the early diagnosis of leukemia remains very important in patient with Down syndrome presenting hyperthermia with hepatosplenomegaly.
12768562
 FEMALE Adult
Prenatal diagnosis of congenital leukemia in a fetus at 25 weeks' gestation with Down syndrome: case report and review of the literature.
Robertson M, De Jong G, Mansvelt E.
Ultrasound Obstet Gynecol. 2003;21(5):486-9.
Leukemia in a hydropic fetus with hepatosplenomegaly and Down syndrome was diagnosed at 25 weeks' gestation.
11380964
 FEMALE Adult
Fetal hydrops and hepatosplenomegaly in the second half of pregnancy: a sign of myeloproliferative disorder in fetuses with trisomy 21.
Smrcek JM, Baschat AA, Germer U, Gloeckner-Hofmann K, Gembruch U.
Ultrasound Obstet Gynecol. 2001;17(5):403-9.
Fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy, although suggestive of infectious etiology, may be a sign of myeloproliferative disorder in fetuses with trisomy 21 or mosaic trisomy 21.
11380964
 FEMALE Adult
Fetal hydrops and hepatosplenomegaly in the second half of pregnancy: a sign of myeloproliferative disorder in fetuses with trisomy 21.
Smrcek JM, Baschat AA, Germer U, Gloeckner-Hofmann K, Gembruch U.
Ultrasound Obstet Gynecol. 2001;17(5):403-9.
In addition, one fetus with sonographic markers of trisomy 21, where karyotyping was unfortunately unsuccessful, presented with hepatosplenomegaly, hydrops and myeloproliferative disorder.
11380964
 FEMALE Adult
Fetal hydrops and hepatosplenomegaly in the second half of pregnancy: a sign of myeloproliferative disorder in fetuses with trisomy 21.
Smrcek JM, Baschat AA, Germer U, Gloeckner-Hofmann K, Gembruch U.
Ultrasound Obstet Gynecol. 2001;17(5):403-9.
To demonstrate the relationship between fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy with a myeloproliferative disorder in fetuses with trisomy 21 or mosaic trisomy 21.
11380964
 FEMALE Adult
Fetal hydrops and hepatosplenomegaly in the second half of pregnancy: a sign of myeloproliferative disorder in fetuses with trisomy 21.
Smrcek JM, Baschat AA, Germer U, Gloeckner-Hofmann K, Gembruch U.
Ultrasound Obstet Gynecol. 2001;17(5):403-9.
To demonstrate the relationship between fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy with a myeloproliferative disorder in fetuses with trisomy 21 or mosaic trisomy 21.
11380964
 FEMALE Adult
Fetal hydrops and hepatosplenomegaly in the second half of pregnancy: a sign of myeloproliferative disorder in fetuses with trisomy 21.
Smrcek JM, Baschat AA, Germer U, Gloeckner-Hofmann K, Gembruch U.
Ultrasound Obstet Gynecol. 2001;17(5):403-9.
Fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy, although suggestive of infectious etiology, may be a sign of myeloproliferative disorder in fetuses with trisomy 21 or mosaic trisomy 21.
9674095
 MIXED_SAMPLE Infant, Newborn
Fetal hepatosplenomegaly: an isolated sonographic sign of trisomy 21 in a case of myeloproliferative disorder.
Hartung J, Chaoui R, Wauer R, Bollmann R.
Ultrasound Obstet Gynecol. 1998;11(6):453-5.
Although transient leukemic reactions have been diagnosed prenatally in cases of Down's syndrome associated with non-immune hydrops, to our knowledge this is the first reported case of isolated hepatosplenomegaly visualized by prenatal ultrasound as a sign of trisomy 21.
9674095
 MIXED_SAMPLE Infant, Newborn
Fetal hepatosplenomegaly: an isolated sonographic sign of trisomy 21 in a case of myeloproliferative disorder.
Hartung J, Chaoui R, Wauer R, Bollmann R.
Ultrasound Obstet Gynecol. 1998;11(6):453-5.
The presence of fetal hepatosplenomegaly has to be taken into consideration as a possible marker for trisomy 21 and not only for infectious or metabolic diseases.
9674095
 MIXED_SAMPLE Infant, Newborn
Fetal hepatosplenomegaly: an isolated sonographic sign of trisomy 21 in a case of myeloproliferative disorder.
Hartung J, Chaoui R, Wauer R, Bollmann R.
Ultrasound Obstet Gynecol. 1998;11(6):453-5.
Fetal hepatosplenomegaly: an isolated sonographic sign of trisomy 21 in a case of myeloproliferative disorder.
8718505
 MIXED_SAMPLE Infant, Newborn
Hydrops fetalis and neonatal leukemia in Down syndrome.
Zipursky A, Rose T, Skidmore M, Thorner P, Doyle J.
Pediatr Hematol Oncol. 1996;13(1):81-7.
We conclude that neonatal leukemia in Down syndrome is a form of leukemia that is usually transient, with spontaneous recovery, but may be fatal at or around the time of birth with manifestations of hydrops fetalis, hepatosplenomegaly, and/or progressive liver disease.
7794514
 FEMALE Adult
Fetal hepatosplenomegaly associated with transient myeloproliferative disorder in trisomy 21.
Macones GA, Johnson A, Tilley D, Wade R, Wapner R.
Fetal Diagn Ther. 1995;10(2):131-3.
Fetal hepatosplenomegaly associated with transient myeloproliferative disorder in trisomy 21.
7509058
 MIXED_SAMPLE Infant, Newborn
Fetal megakaryocytic dyshemopoiesis in Down syndrome: association with hepatic and pancreatic fibrosis.
Becroft DM.
Pediatr Pathol. 1993;13(6):811-20.
Trisomy 21 was diagnosed by prenatal blood sampling at 30 and 31 weeks of gestation, respectively, in two fetuses with hepatosplenomegaly.