Brain MRI

MRI technique is used to examine the brain as it helps to provide clear pictures of the parts of body that are surrounded by bone tissue. Detailed pictures of both benign and malignant abnormal growth of tumors in the brain can be obtained through brain MRI scan. The MRI scan is also indicative whether the tumor is spread to the nearly brain tissue or not. MRI scan can detect the abnormal tissues that grow during multiple sclerosis and the changes occurring during bleeding in the brain or if the brain tissue has suffered a stroke due to lack of oxygen. The functional magnetic resonance imaging is a relatively new procedure. This is used to measure the quick, tiny, metabolic changes that take place in an active part of the brain. The functional magnetic resonance imaging not only helps the radiologist to examine the anatomy of the brain but also to determine the precise part of the brain which is handling the critical aspects of speech, movement and sensation.

Multiple sclerosis

Multiple sclerosis or MS is an autoimmune disease that occurs when the myelin sheath that protects nerve cells is damaged. This leads to slowing of nerve impulses. Inflammation along the brain, optic nerve or spinal cord leads to nerve damage.

Those who have a family history of MS are more susceptible to this condition. The symptoms appear in episodes that relapse after days or weeks or even months. The episodes might be triggered by stress or fever.

Symptoms of Multiple sclerosis appear all over the body as they affect nerve cells. There is numbness and loss of balance, tremors in arms or legs, muscle spasms and difficulty in walking. There is an overriding feeling of fatigue. Patients suffering from MS might have eye discomfort with double vision or loss of vision. There might be painful spasms in the facial muscles and stool or urine leakage. The person might experience depressive feelings, slurred speech and difficulty in swallowing.

MS is diagnosed through brain MRI and spinal MRI. Spinal tap of cerebrospinal fluid is done to check for Multiple sclerosis. Medications to reduce the degradation caused by MS include interferon, Methotrexate, azathioprine (Imuran), intravenous immunoglobulin (IVIg) and cyclophosphamide (Cytoxan). Speech therapy and occupational therapy helps the patients to a large extent.

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