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Pearson syndrome
ICD-10 Codes
Related ICD-10:
Description
What is Pearson Syndrome?
Pearson syndrome is a rare and serious condition that affects various parts of the body, particularly the bone marrow and pancreas [1]. It is characterized by a deficiency in mitochondrial respiratory chain function due to large-scale mitochondrial DNA deletions [5].
Symptoms and Characteristics
The symptoms of Pearson syndrome typically appear in infancy or early childhood and may include:
- Pale skin and fatigue due to underproduction of red blood cells
- Anemia, neutropenia, and thrombocytopenia (low levels of red and white blood cells and platelets)
- Variable hepatic, renal, and endocrine failure [2]
- Exocrine pancreatic dysfunction [8]
Causes and Impact
Pearson syndrome is caused by single large-scale mitochondrial DNA deletions (SLSMDs), which lead to a deficiency in mitochondrial respiratory chain function [5][9]. This can have severe consequences on the body's ability to produce energy, leading to the various symptoms associated with the condition.
References:
[1] Pearson syndrome affects the cells in the bone marrow (hematopoietic stem cells) that produce red blood cells, white blood cells, and platelets [4]. [2] Pearson syndrome is a mitochondrial DNA deletion syndrome with the onset in the first six months of life that primarily affects the bone marrow and the ... [3] [5] Pearson syndrome is caused by large-scale mitochondrial DNA (mtDNA) deletions which lead to a deficiency in mitochondrial respiratory chain function. [8] Pearson syndrome is a multiorgan disorder characterized by exocrine pancreatic dysfunction and vacuolization of marrow hematopoetic precursor cells with ... [9] Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs).
Additional Characteristics
- Pearson syndrome
- mitochondrial respiratory chain function deficiency due to large-scale mitochondrial DNA deletions
- anemia, neutropenia, thrombocytopenia
- hepatic, renal, endocrine failure
- exocrine pancreatic dysfunction
Signs and Symptoms
Pearson Syndrome Signs and Symptoms
Pearson syndrome is a rare and fatal mitochondrial disorder that affects various parts of the body. The signs and symptoms of this condition can vary from person to person, but here are some common ones:
- Blood-related issues: Low red blood cell count (anemia), low white blood cell count (neutropenia), and low platelet count (thrombocytopenia) [4]
- Growth problems: Poor growth, difficulty gaining weight or failure to thrive [2]
- Muscle weakness: Muscle weakness is a common symptom of Pearson syndrome [2]
- Liver problems: Abnormality of the liver is another sign of this condition [6]
- Neurological issues: Hypotonia (low muscle tone), speech delay, and muscular hypertrophy are some neurological symptoms associated with Pearson syndrome [5]
- Gastrointestinal problems: Vomiting and chronic diarrhea are also common symptoms [5]
- Cardiovascular abnormalities: Abnormal heart morphology is a sign of Pearson syndrome [6]
- Sensory issues: Some people with Pearson syndrome may experience droopy eyelids (ptosis), vision problems, hearing loss, seizures, or movement disorders [1][7]
Additional signs and symptoms
Other common signs and symptoms of Pearson syndrome include:
- Failure to thrive
- Pale skin
- Fatigue
- Muscle weakness
- Neutropenia (low white blood cell count)
- Anaemia
- Impaired pancreatic function
It's essential to note that each person with Pearson syndrome may experience a unique set of symptoms, and not everyone will exhibit all of these signs. If you or someone you know is experiencing any of these symptoms, it's crucial to consult a medical professional for proper diagnosis and treatment.
References: [1] Jun 14, 2021 — Some people with Pearson syndrome have droopy eyelids (ptosis), vision problems, hearing loss, seizures, or movement disorders. About half of ... [2] Poor growth, difficulty gaining weight or failure to thrive; Muscle weakness; Liver problems; Diabetes mellitus. Pearson syndrome is a form of mitochondrial ... [3] Feb 27, 2024 — These conditions are punctuated by episodic metabolic crises characterized by somnolence, vomiting, electrolytic abnormalities, lactic acidosis ... [4] What are the symptoms of Pearson Syndrome? · low red blood cell count (anemia) · low white blood cell count (neutropenia) · low platelet count (thrombocytopenia). [5] Additional symptoms comprise failure to thrive, neurological (hypotonia, speech delay, muscular hypertrophy) and gastrointestinal (vomiting, chronic diarrhea ... [6] Symptoms · Thrombocytopenia · Abnormal heart morphology · Abnormality of the liver · Abnormality of the nervous system. [7] Jun 14, 2021 — Some people with Pearson syndrome have droopy eyelids (ptosis), vision problems, hearing loss, seizures, or movement disorders. About half of ... [8] by A Yoshimi · 2022 · Cited by 30 — Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs). [9] Some of the more common signs and symptoms of this condition are: Anaemia; Impaired pancreatic function; Pale skin; Fatigue; Muscle weakness; Neutropenia [low ...
Additional Symptoms
- Cardiovascular abnormalities
- Gastrointestinal problems
- Pale skin
- Growth problems
- Neurological issues
- Blood-related issues
- Liver problems
- Sensory issues
- Impaired pancreatic function
- muscle weakness
- anemia
- failure to thrive
- fatigue
Diagnostic Tests
Diagnostic Tests for Pearson Syndrome
Pearson syndrome can be diagnosed through various tests, including:
- Bone Marrow Biopsy: A bone marrow biopsy can help diagnose Pearson syndrome by identifying abnormal cells in the bone marrow.
- Urine Test: A urine test can also aid in diagnosing Pearson syndrome by detecting abnormalities in the urine.
- Special Stool Test: A special stool test may be conducted to confirm the diagnosis of Pearson syndrome.
- Genetic Testing: Genetic testing can be completed to confirm the presence of a mitochondrial DNA deletion, which is characteristic of Pearson syndrome.
Laboratory Studies
In addition to these tests, laboratory studies such as:
- Complete Blood Count (CBC): A CBC with differential and reticulocyte count may be performed to assess the patient's blood cell counts.
- Metabolic Studies: Metabolic studies, including electrolyte levels, can also be conducted to evaluate the patient's metabolic function.
These diagnostic tests are essential in confirming a diagnosis of Pearson syndrome. [1][2][3][4]
Additional Diagnostic Tests
- Complete Blood Count (CBC)
- Urine Test
- Genetic Testing
- Bone Marrow Biopsy
- Special Stool Test
- Metabolic Studies
Treatment
Current Therapeutic Options for Pearson Syndrome
Pearson syndrome, a rare mitochondrial disorder, currently lacks a curative therapy. However, various treatment approaches have been explored to manage its symptoms.
- Supportive Care: Patients with Pearson syndrome are typically treated with supportive care only, as there are no approved disease-modifying drugs available [6].
- Replacement Therapy: In some cases, replacement therapy with hydrocortisone has been used to treat partial adrenal insufficiency, which is a common feature of the disorder [4].
- Erythropoietin and Red Blood Cell Transfusions: Erythropoietin has been used to manage macrocytic anemia in patients with Pearson syndrome. Additionally, red blood cell transfusions are often necessary to maintain adequate hemoglobin levels [1].
Emerging Therapies
Recent developments suggest that new therapeutic options may be on the horizon:
- Mitochondrial Cell Therapy: A clinical trial is currently underway to investigate the efficacy of mitochondrial cell therapy in treating Pearson syndrome [5].
- MNV-201: This investigational drug is being developed for the treatment of inherited mitochondrial diseases, including Pearson syndrome. It has shown promise in preclinical studies and is currently under development [8].
Challenges and Future Directions
While these emerging therapies hold promise, it's essential to note that Pearson syndrome remains a challenging condition to treat. Further research is needed to develop effective disease-modifying therapies and improve patient outcomes.
References:
[1] Context result 1 [4] Context result 4 [5] Context result 5 [6] Context result 6 [8] Context result 8
Recommended Medications
- Mitochondrial cell therapy
- MNV-201
- erythropoietin inhibitor
- cortisol
- Hydrocortisone
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Pearson Syndrome
Pearson syndrome, a rare congenital disorder, requires careful differential diagnosis to confirm its presence. The following conditions should be considered in the differential diagnosis of Pearson syndrome:
- Diamond-Blackfan anemia: A condition characterized by pure red cell aplasia, which can present with similar symptoms to Pearson syndrome [1].
- Fanconi Anemia: A genetic disorder that affects the production of blood cells and can cause anemia, among other symptoms [2].
- Kearns-Sayre Syndrome: A mitochondrial myopathy that can cause muscle weakness, heart problems, and other systemic issues, which may be similar to Pearson syndrome [3].
- MELAS Syndrome: A mitochondrial disorder that affects the production of energy in cells, leading to a range of symptoms including anemia, among others [4].
It's essential to note that Pearson syndrome is caused by a mutation in the mitochondrial DNA, making it distinct from other conditions. However, the differential diagnosis should consider these conditions when evaluating patients with similar symptoms.
References:
[1] Context 2 [2] Context 2 [3] Context 6 [4] Context 6
Additional Information
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- A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.