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How does Pearson syndrome happen?

Pearson syndrome is caused by single, large deletions of mtDNA, which can range from 1,000 to 10,000 DNA building blocks (nucleotides). The most common deletion, which occurs in about 20 percent of affected individuals, removes 4,997 nucleotides.

What are the symptoms of Pearson syndrome?

Symptoms appear in infancy or early childhood and may include:

  • Pale skin and fatigue due to underproduction of red blood cells (anemia)
  • Frequent infections due to underproduction of white blood cells (neutropenia)
  • Bleeding due to underproduction of blood platelets (thrombocytopenia)
  • Frequent diarrhea.
  • Stomach pain.

How common is Pearson syndrome?

Pearson syndrome is very rare, less than a hundred cases have been reported in medical literature worldwide. The syndrome was first described by pediatric hematologist and oncologist Howard Pearson in 1979; the deletions causing it were discovered a decade later.

Who does Pearson syndrome affect?

Pearson syndrome is a progressive disease, and its features change with age. Neonates may be well at birth, but some 40% of patients present in the first year with persistent hypoplastic anemia, other cytopenias, low birth weight, microcephaly, and multiple organ system involvement (GI, neuromuscular, and metabolic).

How is Pearson Syndrome diagnosed?

Genetic testing for changes or mutations in mitochondrial DNA would confirm the diagnosis for Pearson syndrome. Although it is usually caused by deletions of mitochondrial DNA, duplication of mitochondrial DNA can also cause symptoms of Pearson syndrome.

What are the symptoms of sideroblastic anemia?

However, if your doctor diagnoses you with sideroblastic anemia, also known as SA, you have too much iron in your blood cells….Other symptoms of SA include:

  • Pale skin color.
  • Rapid heart rate, or tachycardia.
  • Headaches.
  • Heart palpitations.
  • Weakness and fatigue.
  • Chest pain.

Is there a cure for Pearson syndrome?

Unfortunately, there is no cure for Pearson syndrome, and the goal of existing treatments is to decrease symptoms to improve quality of life. Children affected by Pearson syndrome may require frequent blood transfusions to help supply the body with healthy red blood cells.

What is Galloway Mowat syndrome?

Galloway-Mowat syndrome is an extremely rare genetic disorder that is characterized by a variety of physical and developmental abnormalities, particularly neurological abnormalities and early onset progressive kidney disease.

What are the main symptoms of Kearns Sayre syndrome?

Symptoms

  • Heart rhythm conduction problems (which may lead to sudden death)
  • Problems with coordination and balance.
  • Muscle weakness in the arms, legs, and shoulders.
  • Difficulty swallowing (from muscle weakness)
  • Hearing loss (can lead to deafness)
  • Decreasing intellectual functioning.

Is Alpers syndrome rare?

Alpers disease is a rare genetic disorder that leads to dementia, liver failure and seizures. Symptoms usually start between ages 2 and 4 or ages 17 and 24.