Related Experiment Videos

[Belated decompensation of an Imerslund-Grasbeck disease]

L Eitenschenck1, C Armari-Alla, D Plantaz

  • 1Département de pédiatrie, CHU de Grenoble, BP 217, 38043 Grenoble, France. Leitenschenck@chu-grenoble.fr

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|November 18, 2005
PubMed

Insights

Imerslund-Gräsbeck disease, a genetic disorder causing vitamin B12 deficiency, leads to megaloblastic anemia and proteinuria. Delayed diagnosis in a child revealed neurological issues during treatment, highlighting the importance of early detection and management.

Area of Science:

  • Genetics
  • Pediatrics
  • Hematology

Background:

  • Imerslund-Gräsbeck disease is an autosomal recessive disorder.
  • Characterized by vitamin B12 deficiency, megaloblastic anemia, and proteinuria without renal failure.
  • Caused by malabsorption of the cobalamin-intrinsic factor complex due to mutations in cubulin and related proteins.

Observation:

  • A case of Imerslund-Gräsbeck disease diagnosed late in a child presenting with acute decompensation and hemophagocytic syndrome.
  • Neurological disorders emerged during vitamin B12 substitution therapy.
  • These neurological symptoms improved with increased vitamin B12 dosage.

Findings:

  • The study highlights the complex presentation of Imerslund-Gräsbeck disease.
  • It emphasizes the potential for neurological complications during treatment.
  • The findings underscore the dose-dependent response of neurological symptoms to vitamin B12.

Implications:

  • Early diagnosis and prompt treatment are crucial for managing Imerslund-Gräsbeck disease.
  • Understanding the disease's genetic basis aids in diagnosis and genetic counseling.
  • This case contributes to the understanding of Imerslund-Gräsbeck disease's clinical spectrum and treatment nuances.

Related Concept Videos

Hepatic Encephalopathy01:29

Hepatic Encephalopathy

DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic shunting—including...
Secondary Spinal Cord Injury llI: Pathophysiology01:25

Secondary Spinal Cord Injury llI: Pathophysiology

Early Ischemia and Ionic ImbalanceWithin minutes of spinal cord injury, a secondary cascade begins, progressing over hours to weeks. Vascular damage reduces blood flow, causing ischemia and mitochondrial dysfunction. ATP depletion leads to ion pump failure, membrane depolarization, sodium influx, potassium efflux, and water accumulation, resulting in cellular swelling. Increased intracellular calcium further disrupts mitochondria and accelerates cellular injury.Excitotoxicity and Neuronal...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Dementia l: Introduction01:22

Dementia l: Introduction

Dementia is an acquired, progressive syndrome characterized by a decline in multiple cognitive domains severe enough to impair daily functioning and reduce independence. Although memory loss is a central feature, the diagnosis requires additional deficits involving language, executive function, visuospatial skills, judgment, calculation, or abstract reasoning. These cognitive impairments reflect underlying neurodegenerative or vascular processes that gradually disrupt neuronal networks...
Export of Misfolded Proteins out of the ER01:32

Export of Misfolded Proteins out of the ER

After folding, the ER assesses the quality of secretory and membrane proteins. The correctly folded proteins are cleared by the calnexin cycle for transport to their final destination, while misfolded proteins are held back in the ER lumen. The ER chaperones attempt to unfold and refold the misfolded proteins but sometimes fail to achieve the correct native conformation. Such terminally misfolded proteins are then exported to the cytosol by ER-associated degradation or ERAD pathway for...