Imerslund-Grasbeck syndrome: Difference between revisions

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Latest revision as of 15:15, 2 November 2012

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-in-Chief Aditya Govindavarjhulla, M.B.B.S. [2]; Assistant Editor-in-Chief: Robert Shafton

Overview

Imerslund-Grasbeck syndrome or Imerslund-Najman-Grasbeck syndrome or Imerslund-Grasbeck disease (IGS or INGS) is an autosomal recessive, familial form of vitamin B₁₂ deficiency caused by malfunction of the receptor located in the terminal ileum.

Signs and symptoms

Defined as those seen in any macrocytic, megaloblastic anemia:

Anemia
Glossitis
Cheilosis
Tabes dorsalis
Peripheral neuropathy
Pancytopenia
Methylmalonyl CoA-emia
Hypersegmented neutrophils and large RBCs
Increased MCV (Mean Corpuscular Volume), decreased Hgb/Hct (indicating anemia), and decreased value of vitamin B₁₂
Proteinuria
Reversal of all symptoms except neurological symptoms, by IV injection of vitamin B₁₂.

Genetics

Autosomal recessive pattern of inheritance. The suspected chromosome is 14.

Treatment

Injection of IV vitamin B₁₂. Early administration is helpful in reversal of few symptoms.

References

Template:WH Template:WS

@@ Line 2: / Line 2: @@
 {{CMG}};
-'''Associate Editor-in-Chief''' [[User:Aditya Govindavarjhulla|Aditya Govindavarjhulla, M.B.B.S.]] [mailto:agovi@perfuse.org]; '''Assistant Editor-in-Chief:''' Robert Shafton
+'''Associate Editor-in-Chief''' [[User:Aditya Govindavarjhulla|Aditya Govindavarjhulla, M.B.B.S.]] [mailto:agovi@wikidoc.org];
+'''Assistant Editor-in-Chief:''' Robert Shafton
-{{EJ}}
 ==Overview==
@@ Line 13: / Line 14: @@
 ==Signs and symptoms==
 Defined as those seen in any macrocytic, megaloblastic anemia:
-*[[Anemia]]: causing fatigue, conjuctival palor, pale complexion, and in some cases, a mild icterus (yellowing of the eye).
+*[[Anemia]]
-*[[Glossitis]]("shiny tongue"): shiny, glossy tongue.
+*[[Glossitis]]
-*[[Cheilosis]](stomatitis): Inflammation of the edges of the lips and the oral mucosa.
+*[[Cheilosis]]
-*[[Tabes dorsalis]] ("subacute combined degeneration of the spinal cord"): This involves the posterior section of the spinal cord and therefore involves [[proprioception]] (sense of position), touch, sense of vibration and in severe cases the [[lateral corticospinal tract]], causing spastic paralysis of the limbs.
+*[[Tabes dorsalis]]
-*Peripheral [[neuropathy]]: tingling sensation in the arms and legs.
+*Peripheral [[neuropathy]]
-*[[Pancytopenia]]: decreased number of blood cells, due to decreased bone marrow production.
+*[[Pancytopenia]]
-*[[Methylmalonyl CoA-emia]]: defined as blood having and unusually high concentration of [[methylmalonyl CoA]].
+*[[Methylmalonyl CoA-emia]]
-*Peripheral findings such as [[hypersegmented neutrophils]] and large RBCs on high field view of the blood smears.
+*[[Hypersegmented neutrophils]] and large RBCs
-*Laboratory findings indicating increased [[MCV]] (Mean Corpuscular Volume), decreased [[Hgb]]/[[Hct]] (indicating anemia), and decreased value of vitamin B<sub>12</sub> in the blood.
+* Increased [[MCV]] (Mean Corpuscular Volume), decreased [[Hgb]]/[[Hct]] (indicating anemia), and decreased value of vitamin B<sub>12</sub>
-*Proteinuria: protein found in the urine detected by analysis or by [[dipstick]].
+*[[Proteinuria]]
 *Reversal of all symptoms except neurological symptoms, by IV injection of vitamin B<sub>12</sub>.
-*[[Schilling test]] indicating <u>no</u> radioactive vitamin B<sub>12</sub> in the urine. (This test has dropped out of favor and should not be tried in patients with any form of renal failure).
 ==Genetics==
-The disease is autosomal recessive, and can therefore skip generations. Mutations in either amnionless (AMN) or cubilin can be the culprit. The suspected chromosome is 14.<ref name=Grasbeck2006/> Due to its autosomal recessive pattern of inheritance, affected individuals (persons possessing a [[homozygous]] [[recessive]] [[genotype]]) need to undergo genetic counselling to identify risk of family members who might be [[heterozygous]] [[genetic carrier]]s.
+Autosomal recessive pattern of inheritance. The suspected chromosome is 14.
 ==Treatment==
-Since the essential pathology is due to the inability to absorb vitamin B12 from the bowels, the solution is therefore injection of IV vitamin B12. Timing is essential, as some of the side effects of vitamin B12 deficiency are reversible (such as RBC indices, peripheral RBC smear findings such as hypersegmented neutrophils, or even high levels of methylmalonyl CoA), but some side effects are irreversible as they are of a neurological source (such as tabes dorsalis, and peripheral neuropathy). High suspicion should be exercised when a neonate, or a pediatric patient presents with anemia, proteinuria, sufficient vitamin B12 dietary intake, and no signs of [[pernicious anemia]].
+Injection of IV vitamin B<sub>12</sub>. Early administration is helpful in reversal of few symptoms.
 ==References==
-{{reflist|2}
+{{reflist|2}}
-{{SIB}}
 {{WH}}
 {{WS}}

Imerslund-Grasbeck syndrome: Difference between revisions

Latest revision as of 15:15, 2 November 2012

Contents

Overview

Signs and symptoms

Genetics

Treatment

References

Navigation menu

Imerslund-Grasbeck syndrome: Difference between revisions

Latest revision as of 15:15, 2 November 2012

Overview

Signs and symptoms

Genetics

Treatment

References

Navigation menu

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