Megaloblastic Anemia Characterized by Microcytosis: Imerslund-Grasbeck Syndrome With Coexistent α-Thalassemia

PEDIATRICS ◽  
1988 ◽  
Vol 81 (6) ◽  
pp. 875-876
Author(s):  
CAROLYN L. RUSSO ◽  
PAUL E. HYMAN ◽  
RONALD S. OSEAS
Keyword(s):  
Case Report ◽  
Family History ◽  
Vitamin B12 ◽  
Autosomal Recessive ◽  
Chronic Diarrhea ◽  
Megaloblastic Anemia ◽  
Microcytic Anemia ◽  
History Of ◽  
Autosomal Recessive Condition ◽  
Vitamin B12 Malabsorption

Imerslund-Grasbeck syndrome is a hereditary autosomal recessive condition of selective vitamin B12 malabsorption in the terminal ileum, resulting in chronic megaloblastic anemia.1,2 The purpose of this report is to describe a child with coincident Imerslund-Grasbeck syndrome and α-thalassemia, who also had a vitamin B12-sensitive microcytic anemia. CASE REPORT When R.S. was 15 months of age his mother reported that progressive anorexia and lethargy had developed. There was no history of chronic diarrhea, vomiting, frequent infections, or pica; there was no family history for blood dyscrasias. R.S. was a black boy who weighed 8.3 kg (less than the fifth percentile); his length was 74 cm (less than the fifth percentile), and his head circumference was 45 cm (second percentile).

A case report on Subacute Combined Degeneration of spinal cord in children – A rare neurological manifestation in Vitamin B12 deficiencies

2017 ◽  
Vol 6 (12) ◽  
pp. 5562
Author(s):  
Tiana Mary Alexander ◽  
Vineeta Pande ◽  
Sharad Agarkhedkar ◽  
Dnyaneshwar Upase
Keyword(s):  
Spinal Cord ◽  
Case Report ◽  
Vitamin B12 ◽  
Pernicious Anemia ◽  
Chronic Diarrhea ◽  
Megaloblastic Anemia ◽  
Vegetarian Diet ◽  
Malabsorption Syndrome ◽  
Subacute Combined Degeneration ◽  
B12 Deficiency

Megaloblastic anemia is a common feature between 6 months – 2 years and rarely occurs after 5 years of age, especially in a child consuming non-vegetarian diet. B12 deficiency may occur after 5 years of age because of chronic diarrhea, malabsorption syndrome, or intestinal surgical causes. Pernicious anemia causes B12 deficiency, but nutritional B12 deficiency with subacute combined degeneration causing ataxia is rare.

The functional cobalamin (vitamin B12)–intrinsic factor receptor is a novel complex of cubilin and amnionless

Blood ◽  
2004 ◽  
Vol 103 (5) ◽  
pp. 1573-1579 ◽  
Author(s):  
John C. Fyfe ◽  
Mette Madsen ◽  
Peter Højrup ◽  
Erik I. Christensen ◽  
Stephan M. Tanner ◽  
...  
Keyword(s):  
Vitamin B12 ◽  
Autosomal Recessive ◽  
Megaloblastic Anemia ◽  
Intrinsic Factor ◽  
Gel Filtration ◽  
Autosomal Recessive Disorder ◽  
Lysosomal Degradation ◽  
Amino Terminal ◽  
Genes Encoding ◽  
Vitamin B12 Malabsorption

Abstract Imerslund-Gräsbeck syndrome (I-GS, megaloblastic anemia 1) is an autosomal recessive disorder characterized by intestinal cobalamin (vitamin B12) malabsorption and proteinuria. I-GS–causing mutations are found in either of 2 genes encoding the epithelial proteins: cubilin and amnionless (AMN). Cubilin recognizes intrinsic factor (IF)–cobalamin and various other proteins to be endocytosed in the intestine and kidney, respectively, whereas the function of AMN is unknown. Here we show that cubilin and AMN colocalize in the endocytic apparatus of polarized epithelial cells and copurify as a tight complex during IF-cobalamin affinity and nondenaturing gel filtration chromatography. In transfected cells expressing either AMN or a truncated IF-cobalamin–binding cubilin construct, neither protein alone conferred ligand endocytosis. In cubilin transfectants, cubilin accumulated in early biosynthetic compartments. However, in cells cotransfected with AMN and the cubilin construct, cubilin trafficked to the cell surface and endosomes, and the cells exhibited IF-cobalamin endocytosis and lysosomal degradation of IF. These data indicate that cubilin and AMN are subunits of a novel cubilin/AMN (cubam) complex, where AMN binds to the amino-terminal third of cubilin and directs subcellular localization and endocytosis of cubilin with its ligand. Therefore, mutations affecting either of the 2 proteins may abrogate function of the cubam complex and cause IG-S.

scholarly journals Bartsocas-Papas Syndrome: Case Report

2022 ◽  
pp. 1-4
Author(s):  
Fareeda Nikhat ◽  
Shalini Dolly Fernandes ◽  
Nabilah Mashharawi ◽  
Shadha Bahutair
Keyword(s):  
Case Report ◽  
Family History ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Severe Form ◽  
Rare Form ◽  
History Of ◽  
The Mediterranean

Bartsocas-Papas syndrome (BPS) is a rare form of autosomal recessive disease, which is often severe and most of the time lethal. Only a few cases have been reported in the literature, so far mainly from the Mediterranean ancestry. We are describing here a case of severe form of BPS, which we encountered in our hospital in Dubai, UAE, which was diagnosed by antenatal scan; the baby had typical features of BPS and died immediately within few hours of life. Parents were first-degree consanguineous couples, and there was a family history of this disorder.

Gallbladder Paraganglioma: A Case Report With Review of the Literature

2005 ◽  
Vol 129 (4) ◽  
pp. 523-526 ◽  
Author(s):  
Shveta Mehra ◽  
Moonja Chung-Park
Keyword(s):  
Case Report ◽  
Retrospective Study ◽  
Family History ◽  
Gastrointestinal Bleeding ◽  
Biliary System ◽  
Rare Tumor ◽  
Review Of The Literature ◽  
Quadrant Pain ◽  
Endocrine Neoplasia ◽  
History Of

Abstract We report a case of gallbladder paraganglioma that was discovered during nonrelated surgery. Retrospective study disclosed a family history of pheochromocytoma. The occurrence of gallbladder paraganglioma in the presence of family history of endocrine neoplasia supports that gallbladder paraganglioma may indeed occur as a part of the multiple endocrine neoplasm syndrome. Gallbladder paraganglioma is a rare tumor, and so far to our knowledge only 6 cases have been reported in the literature. Three cases were discovered incidentally during cholecystectomy for cholelithiasis, 2 presented with right upper quadrant pain, and 1 manifested with gastrointestinal bleeding. We herein review all reported cases of paraganglioma of gallbladder and biliary system.

scholarly journals Neuroleptics and family history of Parkinson diseases: case report

2001 ◽  
Vol 7 (3) ◽  
pp. 559-561
Author(s):  
G. Theodoulou ◽  
G. Milner ◽  
A. Jumaian
Keyword(s):  
Case Report ◽  
Family History ◽  
History Of ◽  
Parkinson Diseases

Case Report-Loyalty, Legacy, and Ledger: Contextual Therapy in a Patient with a Family History of Ovarian Cancer

1999 ◽  
Vol 8 (6) ◽  
pp. 359-372 ◽  
Author(s):  
Tamsen Caruso Brown ◽  
Judy Garber ◽  
Michael Muto ◽  
Katherine A. Schneider
Keyword(s):  
Ovarian Cancer ◽  
Case Report ◽  
Family History ◽  
Contextual Therapy ◽  
History Of

HEREDITARY AND ENVIRONMENTAL FACTORS IN THE PATHOGENESIS OF RHEUMATIC FEVER

PEDIATRICS ◽  
1957 ◽  
Vol 19 (5) ◽  
pp. 908-915
Author(s):  
Eugene F. Diamond
Keyword(s):  
Family History ◽  
Rheumatic Fever ◽  
Autosomal Recessive ◽  
Positive Family History ◽  
Recessive Gene ◽  
Environmental Groups ◽  
Environmental Group ◽  
The Family ◽  
History Of ◽  
Unfavorable Environmental Factor

A study of cases of rheumatic fever admitted to La Rabida Sanitarium over a 5-year period was carried out to evaluate heredity and environment as etiologic factors in rheumatic disease. The incidence of rheumatic fever was shown to be higher in families where one or both parents were known to have a positive family history of rheumatic fever. The incidence of rheumatic fever was compared in environmental groups. A totally unfavorable environment was shown to increase the incidence of rheumatic fever. No single unfavorable environmental factor changed the incidence of rheumatic fever. The incidence of rheumatic fever in each environmental group was higher when there was a positive family history for rheumatic fever, indicating an hereditary factor in the family incidence of rheumatic fever. Analysis of the various mating types in the families with a positive rheumatic trait was carried out. Agreement with a simple autosomal recessive gene inheritance was obtained in families where both parents had a definite family history, but no agreement was obtained in cases where only one parent gave a positive family history.

Abetalipoproteinemia Presenting as Severe Vitamin K Deficiency

PEDIATRICS ◽  
1980 ◽  
Vol 65 (1) ◽  
pp. 161-163
Author(s):  
Fernan M. Caballero ◽  
George R. Buchanan
Keyword(s):  
Vitamin K ◽  
Autosomal Recessive ◽  
Neonatal Period ◽  
Chronic Diarrhea ◽  
Autosomal Recessive Disorder ◽  
Vitamin K Deficiency ◽  
History Of ◽  
K Deficiency ◽  
First Time ◽  
To Receive

Vitamin K deficiency has occasionally been observed in infants after the immediate neonatal period when one or more of the following features is present: diet consisting entirely of breast milk, failure to receive prophylactic vitamin K shortly after birth, therapy with broad-spectrum antibiotics, or chronic diarrhea accompanying malabsorption due to cystic fibrosis or to various acquired causes.1-7 In this report we describe for the first time an infant with the uncommon autosomal recessive disorder abetalipoproteinemia whose major presenting manifestation in early infancy was hemorrhage due to vitamin K deficiency. CASE REPORT A 6-week-old baby was brought in for evaluation because of a two- to three-week history of easy bruising.

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