The clinical examination and laboratory studies revealed pallor of conjunctiva, megaloblastic anemia with vitamin B12 deficiency (serum vitamin B 12 level IGS was firstly described in 1960 by Olga Imerslund and more than 300 cases have been published [revistanefrologia.com]

The blood abnormality leads to many of the signs and symptoms of the condition, including an inability to grow and gain weight at the expected rate (failure to thrive), pale skin (pallor), excessive tiredness (fatigue), and recurring gastrointestinal [ghr.nlm.nih.gov]

Anemia and proteinuria were determined in our patient from the clinical findings of pallor, weakness, weight loss, abdominal pain, glossitis and vomiting together with the laboratory results. [oatext.com]

The presence of failure to thrive, recurrent gastrointestinal or respiratory infections, pallor, and fatigue must alert to the megaloblastic anemia. It is not present at birth. [accesspediatrics.mhmedical.com]

The clinical examination and laboratory studies revealed pallor of conjunctiva, megaloblastic anemia with vitamin B12 deficiency (serum vitamin B12 level <150pg/ml, hemoglobin: 6.5g/dl, MCV: 104fl and peripheral blood smear with hypersegmented neutrophils [scielo.isciii.es]

[…] cases around the world, was postulated as an ancient founder mutation that can trace back to approximately 13,600 years ago. [2] [4] Pathogenesis [ edit ] Vitamin B 12, is an essential water-soluble vitamin found in animal products (such as liver, meat, fish [en.wikipedia.org]

Treatment includes life-long vitamin B12 injections, with which affected individuals can stay healthy for decades. 0001289 Dementia Dementia, progressive Progressive dementia Last updated: 1/6/2014 Testing Resources The Genetic Testing Registry (GTR) [rarediseases.info.nih.gov]

Full Text Dear Editor, Imerslund-Grasbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by megaloblastic anemia due to selective vitamin B 12 malabsorption and asymptomatic proteinuria. 1 IGS occurs in the first 1-2 years of the [revistanefrologia.com]

[…] follow-up of an Imerslund-Grasbeck syndrome patient with proteinuria Correspondence Dear Editor, Imerslund-Grasbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by megaloblastic anemia due to selective vitamin B12 malabsorption and asymptomatic [scielo.isciii.es]

Inherited as an autosomal recessive trait, Imerslund-Grasbeck syndrome is characterized by the onset of megaloblastic anemia and asymptomatic proteinuria during the first 2 years of life [3]. [oatext.com]

The diagnosis of Imerslund-Gräsbeck syndrome was made due to the presence of non-nutritional vitamin B12 deficiency and asymptomatic proteinuria. He showed a rapid haematological and neurological improvement to intramuscular hydroxocobalamin. [bmcpediatr.biomedcentral.com]

Clinical description Other manifestations include failure to thrive and grow, infections and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of the patients. [orpha.net]

Other features may include failure to thrive, infections, and neurological damage. Mild proteinuria (with no signs of kidney disease ) is present in about half of affected individuals. [rarediseases.info.nih.gov]

Anemia and proteinuria were determined in our patient from the clinical findings of pallor, weakness, weight loss, abdominal pain, glossitis and vomiting together with the laboratory results. [oatext.com]

In diagnosing this disease, it is important to be aware that cobalamin deficiency affects enterocyte function; therefore, all tests suggesting general and cobalamin malabsorption should be repeated after abolishment of the deficiency. [orpha.net]

USG abdomen and gastrograffin follow through study were found to be normal .Serum vitamin B12 level were 88.96 pg/ml (normal: 191-663) suggestive of deficiency. Folic acid levels were normal. [oatext.com]

Urine protein: creatinine ratio was 225 mg/mmol suggesting non-nephrotic range proteinuria. [bmcpediatr.biomedcentral.com]

[…] mutations on the CUBN or AMN (genes that encode cubilin and amnionless respectively) have been identified through genetic analysis, and ethnic susceptibility of some of the mutations were indicated from the current research. [2] [3] It has been further suggested [en.wikipedia.org]

Other features of Imerslund-Gräsbeck syndrome include mild neurological problems, such as weak muscle tone (hypotonia), numbness or tingling in the hands or feet, movement problems, delayed development, or confusion. [ghr.nlm.nih.gov]

Peripheral neuropathy : tingling sensation in the arms and legs. Pancytopenia : decreased number of blood cells of all lineages (RBCs, leucocytes, platelets), due to decreased bone marrow production. [en.wikipedia.org]

paralysis of the limbs. [en.wikipedia.org]

Other features of Imerslund-Gräsbeck syndrome include mild neurological problems, such as weak muscle tone (hypotonia), numbness or tingling in the hands or feet, movement problems, delayed development, or confusion. [ghr.nlm.nih.gov]

This condition has been associated with dolichocephaly, confusion, dementia, generalized paresthesias, and sensory deficits. [accesspediatrics.mhmedical.com]

Showing of 10 | Medical Terms Other Names Learn More: HPO ID Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Childhood onset Symptoms begin in childhood 0011463 Confusion Disorientation Easily [rarediseases.info.nih.gov]

CASE REPORT A 22-year-old woman had been referred to our pediatric outpatient clinic with the complaints of pale skin, loss of appetite, ataxia and diarrhea-constipation periods when she was 2-year-old. [revistanefrologia.com]

A young Saudi child with spasticity, truncal ataxia, cerebral atrophy, megaloblastic anaemia and proteinuria is described. [link.springer.com]

Case report A 22-year-old woman had been referred to our pediatric outpatient clinic with the complaints of pale skin, loss of appetite, ataxia and diarrhea-constipation periods when she was 2-year-old. [scielo.isciii.es]

Laboratory findings indicating increased MCV (Mean Corpuscular Volume), decreased Hgb / Hct (indicating anemia), and decreased value of vitamin B 12 in the blood. Proteinuria: protein found in the urine detected by analysis or by dipstick. [en.wikipedia.org]

In contrast, blood film of our patient was compatible with α-thalassaemia without macrocytosis. Therefore, the diagnosis was only made when the child presented with subacute combined degeneration of the spinal cord. [bmcpediatr.biomedcentral.com]