icd 10 code for pearson syndrome

Full Answer

What is the prognosis of Pearson syndrome ICD-9?

ICD-9: 277.87. PROGRESSION. Most children with Pearson syndrome die in infancy or early childhood due to bacterial sepsis resulting from neutropenia, metabolic crisis, or hepatic failure. The few persons surviving into adulthood often develop Kearns-Sayre syndrome, a rare neuromuscular disorder.

What are the clinical features of Pearson syndrome?

Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Other clinical features are failure to thrive, pancreatic fibrosis with insulin-dependent diabetes and exocrine pancreatic deficiency, muscle and neurologic impairment, and, frequently, early death.

Is Pearson syndrome a rare disease?

It has now been identified as a rare condition that affects multiple systems. The symptoms of Pearson syndrome are mitochondrial cytopathy with anemia, neutropenia, and thrombocytopenia. ^ Pearson, Howard A.; Lobel, Jeffrey S.; Kocoshis, Samuel A.; Naiman, J. Lawrence; Windmiller, Joan; Lammi, Ahti T.; Hoffman, Ronald; Marsh, John C. (1979).

What is the treatment for Pearson syndrome?

There is no specific treatment for Pearson syndrome. Treatment is supportive and symptomatic. Chronic red blood transfusions are required to treat anemia. Neutropenia may be treated with colony stimulating factor. Pancreatic enzyme replacement treats malabsorption due to exocrine pancreatic insufficiency.

What is Pearson syndrome?

Pearson syndrome is a very rare condition that affects various parts of the body, in particular the bone marrow and the pancreas. Pearson syndrome also affects the cells in the bone marrow that produce white blood cells, red blood cells and platelets, called hematopoietic stem cells.

How common is Pearsons 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.

What is the life expectancy of someone with Pearson Syndrome?

The condition is now known to be a rare, multisystemic, mitochondrial cytopathy with anemia, neutropenia, and thrombocytopenia, as well as variable hepatic, renal, and endocrine failure. Death usually occurs early in life (before age 4 years).

What body systems are affected by Pearson syndrome?

Pearson syndrome affects many parts of the body but especially the bone marrow and the pancreas. Pearson syndrome affects the cells in the bone marrow (hematopoietic stem cells) that produce red blood cells, white blood cells, and platelets.

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.More items...

How is Pearson syndrome inherited?

Inheritance. Pearson syndrome is generally not inherited but arises from new (de novo) mutations that likely occur in early embryonic development.

What are the symptoms of mitochondrial myopathy?

The symptoms of mitochondrial myopathies include muscle weakness or exercise intolerance, heart failure or rhythm disturbances, dementia, movement disorders, stroke-like episodes, deafness, blindness, droopy eyelids, limited mobility of the eyes, vomiting, and seizures.

How is Alpers disease diagnosed?

Healthcare providers usually diagnose Alpers disease by looking for the main symptoms of dementia, liver disease and seizures. Other tests they may use to confirm the diagnosis include: Cerebrospinal fluid analysis: Your provider collects fluid from your lower back with a spinal tap.

How is Pearson syndrome inherited?

Inheritance. Pearson syndrome is generally not inherited but arises from new (de novo) mutations that likely occur in early embryonic development.

How common is Leigh syndrome?

Frequency. Leigh syndrome affects at least 1 in 40,000 newborns. The condition is more common in certain populations.

What causes Melas syndrome?

Causes. MELAS is caused by mutations in mitochondrial DNA (mtDNA). Mutations affecting the genes for mtDNA are inherited from the mother. MtDNA that is found in sperm cells is typically lost during fertilization and as a result, all human mtDNA comes from the mother.

How is Alpers disease diagnosed?

Healthcare providers usually diagnose Alpers disease by looking for the main symptoms of dementia, liver disease and seizures. Other tests they may use to confirm the diagnosis include: Cerebrospinal fluid analysis: Your provider collects fluid from your lower back with a spinal tap.

Clinical description

Presentation is typically with congenital microcoria and heavy proteinuria. Proteinuria is usually nephrotic range, at or shortly after birth and progresses rapidly to early onset renal failure.

Etiology

Mutations in the LAMB2 gene (3p21) encoding laminin beta 2 have been identified. Laminin beta 2 is expressed in the glomerular basement membrane, at the neuromuscular junctions, as well as in the intraocular muscles, lens and retina.

Differential diagnosis

Early onset severe proteinuria accompanied by ocular anomalies are rare. Therefore, in typical cases, it is relatively easy to suspect this disease. Lowe syndrome (proteinuria, mostly low molecular weight protein, and congenital cataract) or renal-coloboma syndrome (due to PAX2 gene pathogenic variants) can be candidates for differential diagnosis.

Antenatal diagnosis

Prenatal diagnosis is difficult, but sometimes may be suspected on hyperechogenic kidneys and oligohydramnios. Only genetic testing allows early and reliable prenatal diagnosis. Prenatal diagnosis may be offered to families in which the disease-causing mutation has already been identified in affected siblings.

Genetic counseling

The disease is transmitted as an autosomal recessive trait. Where both parents are unaffected carriers of the disease, there is a 25% risk of transmission to offspring. Carrier testing of healthy family members is possible where the mutation has been identified in a family with at least one affected member.

Management and treatment

There is no specific treatment available. Since protein loss is limited, nephrectomy to prevent protein loss to urine is rarely needed. Angiotensin converting enzyme (ACE) inhibitors could help reduce urine protein loss and can delay the progression to end-stage kidney disease (ESKD) due to their renal protective effects.

Prognosis

The kidney prognosis is severe with most patients progressing towards renal failure within the first year of life. Visual prognosis is generally poor: visual acuity ranges from no light perception to 20/200. Mild to severe intellectual disability is always observed. Survival into adult is reported with renal replacement therapies.

Index to Diseases and Injuries

The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10 code (s). The following references for the code E88.49 are found in the index:

Approximate Synonyms

The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:

Convert E88.49 to ICD-9 Code

The General Equivalency Mapping (GEM) crosswalk indicates an approximate mapping between the ICD-10 code E88.49 its ICD-9 equivalent. The approximate mapping means there is not an exact match between the ICD-10 code and the ICD-9 code and the mapped code is not a precise representation of the original code.

Information for Patients

Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues.

What is Pearson syndrome?

Genetics. Pearson syndrome is a mitochondrial disease caused by a deletion in mitochondrial DNA (mtDNA). An mtDNA is genetic material contained in the cellular organelle called the mitochondria. Depending on the tissue type, each cell contains hundreds to thousands of mitochondria. There are 2–10 mtDNA molecules in each mitochondrion.

How rare is Kearns-Sayre syndrome?

The few patients who survive into adulthood often develop symptoms of Kearns–Sayre syndrome. It is caused by a deletion in mitochondrial DNA. 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;

Can genetic testing confirm Pearson syndrome?

Genetic testing is also an option in which identifying mutations in mitochondrial DNA, specifically deletions or duplications, would confirm the diagnosis of Pearson Syndrome.

Is Pearson syndrome a mitochondrial disease?

Mitocho ndrial disease. Pearson syndrome is classified as a mitochondrial disease because it consists of several overlapping syndromes that are caused by mutations of mitochondrial DNA. Specifically, Pearson syndrome is a combination of syndromes that involves the bone marrow and the exocrine pancreas.

What are the symptoms of Pearson syndrome?

Pearson syndrome also affects the pancreas, which can cause frequent diarrhea and stomach pain, trouble gaining weight, and diabetes. Some children with Person syndrome may also have problems with their liver, kidneys, heart, eyes, ears, and/or brain. [1] [2] [3] [4]

How does Pearson syndrome occur?

Most cases of Pearson syndrome occur by mistake ( de novo mutation) during very early development of the embryo. Sometimes the deletion occurs in the egg cell. This means that the disease was not passed down or inherited from either parent and no other family member has the disease. [1] [2] [3] [5]

Why is Pearson syndrome anemic?

[1] [2] [3] Children with Pearson syndrome are anemic because the iron which should be in the hemoglobin, ends up instead in the mitochondria.

What are the parts of the body affected by Pearson syndrome?

Pearson syndrome affects many parts of the body but especially the bone marrow and the pancreas. Pearson syndrome affects the cells in the bone marrow ( hematopoietic stem cells) that produce red blood cells, white blood cells, and platelets. Having too few red blood cells ( anemia ), white blood cells ( neutropenia ), or platelets ( thrombocytopenia) can cause a child to feel weak and tired, be sick more often, bruise more easily and take a longer time to stop bleeding when cut. Pearson syndrome also affects the pancreas, which can cause frequent diarrhea and stomach pain, trouble gaining weight, and diabetes. Some children with Person syndrome may also have problems with their liver, kidneys, heart, eyes, ears, and/or brain. [1] [2] [3] [4]

Does Pearson syndrome affect pancreas?

[1] [2] [3] [4] Pearson syndrome may also affect the pancreas, which is a gland found in our abdomen or belly.

Is Pearson's syndrome good?

Unfortunately, the prognosis for Pearson syndrome is not good. Pearson syndrome usually causes a baby to die while still an infant. If a child lives past infancy, he or she may begin to have fewer symptoms of Pearson syndrome, and the symptoms may be less severe. Many of the children who survive past age 4 go on to have symptoms of a different disease called Kearns-Sayre syndrome. This disease is more likely to affect the brain, spinal cord, and nerves. Symptoms of Kearns-Sayre syndrome include weak eye muscles and difficulty coordinating movements. It is important for a child with Pearson syndrome to be monitored by their doctors for any changes in symptoms as they get older. [1] [2] [3]

Can mutations in mitochondrial DNA cause Pearson syndrome?

Finally, genetic testing for changes or mutations in mitochondrial DNA would confirm the diagnosis. The results of the genetic test may be especially important. Although Pearson syndrome is usually caused by deletions of mitochondrial DNA, duplication of mitochondrial DNA can also cause symptoms of Pearson syndrome.

What is a non-neoplastic disorder characterized by bilateral polycystic and enlarged

A health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance. A non-neoplastic disorder characterized by bilateral polycystic and enlarged ovaries.

What are the symptoms of Pcos?

baldness or thinning hair. acne, oily skin, or dandruff. patches of thickened dark brown or black skin. women with pcos are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure.medicines can help control the symptoms.

What is Parkinson's disease?

Parkinson's disease is a disorder that affects nerve cells, or neurons, in a part of the brain that controls muscle movement. In parkinson's, neurons that make a chemical called dopamine die or do not work properly. Dopamine normally sends signals that help coordinate your movements.

How old do you have to be to get Parkinson's?

They may also have problems such as depression, sleep problems or trouble chewing, swallowing or speaking. Parkinson's usually begins around age 60, but it can start earlier.

What does a type 1 excludes note mean?

They must be used in conjunction with an underlying condition code and they must be listed following the underlying condition. A type 1 excludes note is a pure excludes. It means "not coded here". A type 1 excludes note indicates that the code excluded should never be used at the same time as G20.

Overview

Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Other clinical features are failure to thrive, pancreatic fibrosis with insulin-dependent diabetes and exocrine pancreatic deficiency, muscle and neurologic impairment, and, frequently, early death. It is usually fatal in infancy. The few patients who survive into adulthood often develop symptoms of Kearns–Sayre syndrome. It is caused by a deletion in mitochondrial D…

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