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Niemann pick

Niemann pick is a type of lysosomal storage disease and is an inherited condition that involves the metabolism of lipids. This leads to a breakdown in the of use and transport of fats and cholesterol in the body. The disease affects the body's ability to mobilize fat within cells. When this fat (cholesterol and lipids) accumulates in large amounts, it causes dysfunction of the cell and untimely death of a person. Harmful levels of lipids accumulate in the spleen, lungs, liver, bone marrow and brain. Niemann pick disease is more common in children. The disease is classified into three major types namely Niemann pick A, B and C. Niemann pick Type A and Type B are caused by the deficiency in an enzyme called acid sphingomyelinase. This enzyme is found within the lysosome cells and is an essential component in metabolizing a lipid called sphingomyelin.

Symptoms are related to the type of disease.

Type A: occurs in children. Children may not survive as the condition affects the nervous system. Symptoms include:

  • Enlarged spleen and liver
  • Progressive deterioration of the nervous system
  • Stunted growth
  • No weight gain.

Type B: occurs in childhood, known as the non-neurological type as the nervous system is not affected. Children survive into adulthood.

  • Growth retardation
  • Splenomegaly
  • High cholesterol and lipid levels in the blood
  • Low platelet levels
  • Lung infection
  • Problems in the functioning of the lungs.

Type C: can occur in children or in adults

  • Severe liver disease
  • Breathing difficulties
  • Seizures
  • Poor muscle tone
  • Developmental delay
  • Eye problem
  • Problems in feeding
  • Lack of coordination.

Other general symptoms include:

  • Seizures
  • Cataplexy (sudden loss of muscle tone)
  • Dystonia (excessive muscle contraction)
  • Accumulation of sphingomyelin in the central nervous system shows symptoms and signs like slurred speech (dysarthria) and abnormal swallowing (dysphagia)
  • Recurrent pneumonia
  • Difficulty in swallowing and eating
  • Sleep disturbances
  • Sleep inversion (sleepiness during the day and wakefulness during the night)
  • Bones are affected.

Diagnosis depends on the type of Niemann pick disease

For Type A or B: Blood sample or bone marrow sample is used to measure the level of acid sphingomyelinase in the blood.
For Type C: A small sample is skin is taken to test how the cells move and store cholesterol.

Other tests may include brain MRI, genetic testing and eye test to confirm if there is difficulty in normal eye movement

Splenomegaly

The spleen is responsible for the production of humoral antibodies and is a reservoir for blood cells. In case of Splenomegaly, the functions associated with the spleen are hampered. Enlarged spleen or Splenomegaly generally indicates the presence of an underlying medical condition which has to be attended to immediately. Physicians palpate the patient and observe the size variation that is clinically correlated with Splenomegaly. This routine examination is followed by other diagnostic tests which include blood, urine and body fluid analysis to identify the presence of infection.


Symptoms of Splenomegaly

The occurrence of Splenomegaly is usually asymptomatic unless there is an underlying factor such as bacterial, viral or parasitic infection. In most cases, patients complain of upper abdominal discomfort or pain, decreased appetite, weakness because of anemia and susceptibility to infections.

Splenomegaly predominantly occurs because of infections. However other metabolic disorders such as Niemann pick and Gaucher's disease can also serve as diagnostic markers. The susceptibility of Splenomegaly is high among children and elderly persons. Enlarged spleen can be life threatening as it may lead to splenic rupture in the abdominal cavity.

Treatment options for Splenomegaly include treating the underlying infection by administration of antibiotics. Post operative patients must be given antibiotics such as penicillin to avoid relapse of infections. In case of splenic enlargement, contact sports such as football, wrestling, boxing must be avoided. Children must be given vaccinations for Pneumococci, Haemophilus influenza (Bacillus Influenzae) on schedule to avoid infections. Splenectomy is the surgical choice in cases of total spleen malfunction or rupture.



Hepatomegaly

Hepatomegaly refers to abnormal swelling of the liver. On palpation of the right side of the abdomen, if the liver extends below the ribs, it indicates an enlarged liver. Hepatitis indicates general inflammation of the liver. If both the liver and spleen are enlarged, the condition is called Hepatosplenomegaly.


Possible causes of Hepatomegaly include:



Most people suffering Hepatomegaly do not have any noticeable symptoms. Some experience fatigue, loss of appetite, nausea and pain on the right side of the abdomen. Diagnostic tests such as abdominal ultrasound, Liver Function Test and abdomen MRI are suggested.


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Collection of Pages - Last revised Date: October 18, 2017