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Infantile pyknocytosis

MedGen UID:
584930
Concept ID:
C0398554
Disease or Syndrome
Synonym: Infantile Pyknocytosis
SNOMED CT: Infantile pyknocytosis (191229004)

Definition

A rare, neonatal syndrome characterized by early jaundice that becomes rapidly associated with severe hemolytic anemia. The peripheral blood smear is remarkable for small irregular, contracted red blood cells with hyper-dense spikes (pyknocytes), that progressively increase in number and then spontaneously disappear. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInfantile pyknocytosis

Recent clinical studies

Etiology

Drouilly M, Jourdan L, Gérard D, Russello J, Bobée V, Audouy A, Phulpin A, Perrin J
Pediatr Blood Cancer 2024 Aug;71(8):e31078. Epub 2024 May 24 doi: 10.1002/pbc.31078. PMID: 38794793
Andres O, Eber S, Speer CP
Ann Hematol 2015 Dec;94(12):1959-64. Epub 2015 Sep 4 doi: 10.1007/s00277-015-2491-z. PMID: 26336967
Eyssette-Guerreau S, Bader-Meunier B, Garcon L, Guitton C, Cynober T
Br J Haematol 2006 May;133(4):439-42. doi: 10.1111/j.1365-2141.2006.06033.x. PMID: 16643454
Ackerman BD
Am J Dis Child 1969 Apr;117(4):417-23. doi: 10.1001/archpedi.1969.02100030419005. PMID: 5773409

Diagnosis

Drouilly M, Jourdan L, Gérard D, Russello J, Bobée V, Audouy A, Phulpin A, Perrin J
Pediatr Blood Cancer 2024 Aug;71(8):e31078. Epub 2024 May 24 doi: 10.1002/pbc.31078. PMID: 38794793
Namba T, Ochi M, Ogura H, Kanno H, Higuchi Y
Pediatr Neonatol 2021 Sep;62(5):563-564. Epub 2021 Jun 2 doi: 10.1016/j.pedneo.2021.05.015. PMID: 34120867
Castillo J, Ness TE, Mehta PS
J Pediatr Hematol Oncol 2020 May;42(4):e251-e253. doi: 10.1097/MPH.0000000000001461. PMID: 30933020
Andres O, Eber S, Speer CP
Ann Hematol 2015 Dec;94(12):1959-64. Epub 2015 Sep 4 doi: 10.1007/s00277-015-2491-z. PMID: 26336967
Eyssette-Guerreau S, Bader-Meunier B, Garcon L, Guitton C, Cynober T
Br J Haematol 2006 May;133(4):439-42. doi: 10.1111/j.1365-2141.2006.06033.x. PMID: 16643454

Prognosis

Spoorenberg ME, Wachters-Hagedoorn RE, van Wijk R, de Kok JB
J Pediatr Hematol Oncol 2021 Oct 1;43(7):e1037-e1039. doi: 10.1097/MPH.0000000000002004. PMID: 33235153

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