Niemann Pick disease

Niemann-Pick disease (pronounced: nee-mun pick) is a group of inherited metabolic disorders, known collectively as lysosomal storage diseases, in which harmful quantities of fatty substances, or lipids, accumulate in the spleen, liver, lungs, bone marrow, and brain.

Etymology

The disease is named after Albert Niemann, a German pediatrician who first described the disease in 1914, and Ludwig Pick, a German pathologist who later further defined the disease.

Types

There are four main types of Niemann-Pick disease: Type A, Type B, Type C1, and Type C2.

• Niemann-Pick disease Type A is a severe neurodegenerative disorder that begins in infancy and leads to profound brain damage, failure to thrive, and death in early childhood.

• Niemann-Pick disease Type B is a milder form that begins in childhood or adolescence and primarily affects the spleen and liver, causing enlargement of these organs.

• Niemann-Pick disease Type C1 and C2 are characterized by severe neurological deterioration, with symptoms including ataxia, dysarthria, dysphagia, and progressive dementia.

Symptoms

Symptoms of Niemann-Pick disease vary by type and individual, but may include hepatosplenomegaly, jaundice, developmental delay, seizures, and dementia.

Diagnosis

Diagnosis of Niemann-Pick disease involves clinical evaluation, detailed patient history, and specialized tests such as enzyme assays, genetic testing, and imaging studies.

Treatment

There is currently no cure for Niemann-Pick disease. Treatment is supportive and aimed at managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, speech therapy, and medication to manage specific symptoms.

Prognosis

The prognosis for individuals with Niemann-Pick disease varies depending on the type and severity of symptoms. Type A is typically fatal in early childhood, while individuals with Type B and Type C may live into adulthood with appropriate management and care.

See also

• Lysosomal storage disease
• Metabolic disorder
• Genetic disorder

External links

• Medical encyclopedia article on Niemann Pick disease
• Wikipedia's article - Niemann Pick disease

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