HYPOPLASTIC ANEMIA WITH MULTIPLE CONGENITAL DEFECTS (FANCONI SYNDROME)

A case of Fanconi syndrome at an unusually young age presenting anemia, leukopenia, thrombocytopenia, microcephaly, hypogenitalism, skin pigmentation, and anomalies of thumbs, kidneys and heart is described. The patient's younger brother with multiple anomalies of the extremities, hydrocephalus, abnormal ears and genitalia died at the age of 17 months without pigmentation and hematologic symptoms, changes which usually do not occur before the age of 5 years. The literature is reviewed and a follow-up on previously reported cases is given. It seems that in addition to a hypoplasia of the bone marrow an extracorpuscular hemolytic mechanism plays a role in the pathogenesis of the anemia. It is suggested that some manifestations may be due to impaired adrenocortical function.

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Constitutional Anemia (Fanconi’s Syndrome) and Leukemia in Two Brothers

Blood ◽

10.1182/blood.v10.8.788.788 ◽

1955 ◽

Vol 10 (8) ◽

pp. 788-801 ◽

Cited By ~ 37

Author(s):

R. H. COWDELL ◽

P. J. R. PHIZACKERLEY ◽

D. A. PYKE

Keyword(s):

Bone Marrow ◽

Acute Leukemia ◽

Short Stature ◽

Left Kidney ◽

The Other ◽

Congenital Defects ◽

Fanconi’S Syndrome ◽

Bone Marrow Hypoplasia ◽

Fanconi's Syndrome ◽

Hypoplastic Anemia

Abstract Two brothers physically very alike became ill in their third decade, one with severe bone marrow hypoplasia and the other with acute leukemia. Both died and the autopsy findings are described. The two shared certain congenital defects, notably short stature with small heads, cutaneous pigmentation, pituitary and genital hypoplasia, and deformity of the thumbs. The brother with hypoplastic anemia also had aortic hypoplasia and his left kidney was absent. No previous report has been discovered of the association of Fanconi’s syndrome (of bone marrow hypoplasia with congenital defects) and leukemia with similar congenital defects in brothers. In two reports of leukemia affecting cousins of patients with Fanconi's syndrome, the leukemic cousins were without congenital defects.

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CONGENITAL HYPOPLASTIC ANEMIA ASSOCIATED WITH MULTIPLE DEVELOPMENTAL DEFECTS (FANCONI SYNDROME)

Blood ◽

10.1182/blood.v2.1.85.85 ◽

1947 ◽

Vol 2 (1) ◽

pp. 85-93 ◽

Cited By ~ 16

Author(s):

S. ESTREN ◽

JOHN F. SUESS ◽

WILLIAM DAMESHEK

Keyword(s):

Fanconi Syndrome ◽

Congenital Defects ◽

Simultaneous Occurrence ◽

Developmental Defects ◽

Hypoplastic Anemia

Abstract A sporadic example of Fanconi syndrome (congenital hypoplastic anemia in association with other congenital defects) is reported. The significance of the simultaneous occurrence of multiple congenital defects in the pathogenesis of congenital hypoplastic anemia is discussed.

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Follow-up by cytogenetic and fluorescence in situ hybridization analysis of allogeneic bone marrow transplantation in two children with Fanconi's anaemia in transformation

British Journal of Haematology ◽

10.1046/j.1365-2141.2000.02334.x ◽

2000 ◽

Vol 111 (1) ◽

pp. 329-333 ◽

Cited By ~ 5

Author(s):

M. Ortega ◽

M. R. Caballin ◽

J. J. Ortega ◽

T. Olive ◽

M. D. Coll

Keyword(s):

Bone Marrow ◽

In Situ Hybridization ◽

Bone Marrow Transplantation ◽

Fluorescence In Situ Hybridization ◽

Marrow Transplantation ◽

Allogeneic Bone Marrow Transplantation ◽

Allogeneic Bone Marrow ◽

Allogeneic Bone

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Bone Marrow Lesions Associated With Cartilage Damage at Follow-Up

Rheumatology News ◽

10.1016/s1541-9800(08)70047-4 ◽

2008 ◽

Vol 7 (2) ◽

pp. 7

Keyword(s):

Bone Marrow ◽

Cartilage Damage ◽

Bone Marrow Lesions

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37 Sustained quality of life improvement at one year follow-up in patients with ischemic heart failure listed for heart transplantation submitted to endocardial injection of bone marrow cells

European Journal of Heart Failure Supplements ◽

10.1016/s1567-4215(04)90018-5 ◽

2004 ◽

Vol 3 (1) ◽

pp. 6-7

Author(s):

H DOHMANN

Keyword(s):

Quality Of Life ◽

Heart Failure ◽

Bone Marrow ◽

Heart Transplantation ◽

Bone Marrow Cells ◽

Ischemic Heart Failure ◽

Life Improvement ◽

One Year

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Intracoronary Bone Marrow Cell Transfer After Myocardial Infarction: Eighteen Months' Follow-Up Data From the Randomized, Controlled BOOST (BOne marrOw transfer to enhance ST-elevation infarct regeneration) Trial

Yearbook of Cardiology ◽

10.1016/s0145-4145(08)70145-x ◽

2007 ◽

Vol 2007 ◽

pp. 220-221

Author(s):

B.J. Gersh

Keyword(s):

Myocardial Infarction ◽

Bone Marrow ◽

Bone Marrow Cell ◽

Marrow Cell ◽

Cell Transfer ◽

Randomized Controlled ◽

St Elevation

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Bone and Bone Marrow Blood Flow in Blastic Crisis of Chronic Granulocytic Leukaemia

Nuklearmedizin ◽

10.1055/s-0037-1620918 ◽

1979 ◽

Vol 18 (06) ◽

pp. 290-292 ◽

Cited By ~ 2

Author(s):

R. Lahtinen ◽

T. Lahtinen

Keyword(s):

Bone Marrow ◽

Cell Proliferation ◽

Blood Flow ◽

Proximal Femur ◽

Blastic Crisis ◽

Normal Bone ◽

Chronic Granulocytic Leukaemia ◽

Washout Curves ◽

Bone Marrow Blood

SummaryA l33Xe washout method has been used for measuring changes of blood flow in the proximal femur of a patient with the blastic crisis of chronic granulocytic leukaemia. In the hyperplastic phase the blood flow was highly increased and over three times greater than in the hypoplastic phase of the disease and over thirteen times greater than the value in normal bone. The bone circulation and especially the first component of the two-exponential bone washout curves appeared to reflect cell proliferation and neoplastic activity of the whole bone marrow. The method may provide clinically important information in the follow-up of selected haematological diseases.

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