Transient Abnormal Myelopoiesis Associated with Down Syndrome Presenting as Severe Hydrops Fetalis: A Case Report

Transient abnormal myelopoiesis (TAM) also known as transient myeloproliferative disorder (TMD), a unique transient neonatal preleukaemic disorder characterized by clonal proliferation of megakaryoblasts, has been usually described to be associated with Down syndrome neonates. However, there are case reports of it occurring in neonates without Down phenotype, who are either mosaic for trisomy 21 or have trisomy 21 restricted to leukemic clone. This case report presents a case of TAM in a phenotypically normal neonate who presented in respiratory distress with features of tumour lysis syndrome (TLS) immediately after birth who was treated symptomatically and had spontaneous remission within three months.

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Hydrops fetalis And Congenital Pulmonary Capillary Haemangiomatosis in a Premature Infant, A Case Report And Literature Review

10.1055/s-0038-1660616 ◽

2018 ◽

Author(s):

A Iacoi ◽

A Brobeil ◽

M Goette ◽

C Enzensberger ◽

V Mueller ◽

...

Keyword(s):

Case Report ◽

Literature Review ◽

Premature Infant ◽

Hydrops Fetalis ◽

Pulmonary Capillary

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CASE REPORT: RARE FORM OF HIRSCHPRUNG’S DISEASE

10.35988/sm-hs.2020.118 ◽

2020 ◽

Vol 30 (5) ◽

pp. 82-84

Author(s):

Ilja Skalskis

Keyword(s):

Down Syndrome ◽

Case Report ◽

Clinical Symptoms ◽

Hirschsprung Disease ◽

Distal Colon ◽

Total Colonic Aganglionosis ◽

Sphincter Function ◽

Anal Sphincter Function ◽

History Of ◽

High Index Of Suspicion

Hirschsprung disease (HD) is a developmental disorder characterized by the absence of ganglia in the distal colon, resulting in a functional obstruction. Incidence of total colonic aganglionosis (TCA) is 1 in 500 000 and it accounts for 5-10% of all cases of HD. HD should be suspected in patients with typical clinical symptoms and a high index of suspicion is appropriate for infants with a predisposing condition such as Down Syndrome (DS), or for those with a family history of HD. The treatment of choice for HD is surgical, such as Swenson, Soave, and Duhamel procedures. The goals are to resect the affected segment of the colon, bring the normal ganglionic bowel down close to the anus, and preserve internal anal sphincter function. We present a clinical case report of TCA in a child with Down syndrome (DS) and review of literature.

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Cerebral venous thrombosis in a patient with Down syndrome and coronavirus disease 2019: a case report

Journal of Medical Case Reports ◽

10.1186/s13256-021-02908-0 ◽

2021 ◽

Vol 15 (1) ◽

Author(s):

Henry Robayo-Amortegui ◽

Natalia Valenzuela-Faccini ◽

Cesar Quecano-Rosas ◽

Darlyng Zabala-Muñoz ◽

Michel Perez-Garzon

Keyword(s):

Risk Factors ◽

Down Syndrome ◽

Case Report ◽

Venous Thrombosis ◽

Cerebral Venous Thrombosis ◽

Epidemiological Data ◽

Thromboembolic Disease ◽

Hispanic Woman ◽

Case Presentation ◽

The World

Abstract Background The new coronavirus disease 2019 pandemic has spread throughout most of the world. Cerebral venous thrombosis is a rare thromboembolic disease that can present as an extrapulmonary complication in coronavirus disease 2019 infection. Case presentation We report the case of a Hispanic woman with Down syndrome who has coronavirus disease 2019 and presents as a complication extensive cerebral venous thrombosis. Conclusions Cerebral venous thrombosis is a rare thromboembolic disease that can present as an extrapulmonary complication in coronavirus disease 2019 infection. In the absence of clinical and epidemiological data, it is important to carry out further investigation of the risk factors and pathophysiological causes related to the development of cerebrovascular thrombotic events in patients with Down syndrome with coronavirus disease 2019 infection.

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