Biomaterial Database

[Congenital malabsorption of vitamin B12 (Imerslund's syndrome) in a premature girl with Down's syndrome (author's transl)]. 1978

A Celada, and M Wyss

A baby girl, born prematurely and with Down's syndrome, is hospitalized at the age of 51 days for a megaloblastic anemia. The anemia was caused by a selective malabsorption of vitamin B12 (Imerslund's syndrome), even in presence of intrinsic factor. The pathogenesis of different causes of vitamin B12 deficiency is discussed and the favourable development of this case after four years of treatment is shown.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007235	Infant, Premature, Diseases	Diseases that occur in PREMATURE INFANTS.
D008286	Malabsorption Syndromes	General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients.	Malabsorption Syndrome,Syndrome, Malabsorption,Syndromes, Malabsorption
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D004314	Down Syndrome	A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)	Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000748	Anemia, Macrocytic	Anemia characterized by larger than normal erythrocytes, increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).	Anemias, Macrocytic,Macrocytic Anemia,Macrocytic Anemias
D000749	Anemia, Megaloblastic	A disorder characterized by the presence of ANEMIA, abnormally large red blood cells (megalocytes or macrocytes), and MEGALOBLASTS.	Anemias, Megaloblastic,Megaloblastic Anemia,Megaloblastic Anemias