Dysphagia

Dysphagia is a swallowing disorder where patients feel a choking sensation on eating or drinking. There is a sensation of food being stuck in the throat or chest. The word is derived from the Greek word for disordered eating.

Dysphagia can be caused due to GERD, mouth cancer or esophageal cancer or even a stroke. Those suffering from Parkinson's disease, Alzheimer's disease, Multiple sclerosis, laryngitis and tonsillitis are more likely to suffer this condition. There is a risk of aspiration pneumonia, dehydration and airway obstruction. The patient coughs frequently and anything that is eaten escapes from the mouth or nose.

The patient is examined for swallowing assessment and detecting swallowing abnormalities. The back of the tongue, throat and larynx is examined with a flexible laryngoscope. Endoscopic examination of the esophagus and stomach is also done. A barium swallow helps capture the movement of food on swallowing. Food modification, surgery or physical modifications are resorted to.

Barium Swallow

Barium Swallow or Upper GI series is a radiological test that allows visual examination of the esophagus, stomach, duodenum and small intestine. Nothing should be eaten for about 6 hours prior to the test. Typically, double contrast barium swallow is used. The patient is made to swallow a barium drink after swallowing an effervescent agent. The barium creates a temporary coating on the lining of the upper GI tract. Then he is asked to stand and lie in different positions to spread the liquid. An x-ray machine then takes pictures. Fluoroscopy is often used during a barium swallow.

After this test, patients are asked to drink extra fluids and water to relieve the bowels of the barium. Constipation or fecal impaction may occur if the barium isn't completely eliminated from the body. This diagnostic test is used for detecting dysphagia, hernia, peptic ulcer disease, GERD (Gastro Esophageal Reflux Disease), achalasia, generalized epigastric pain and suspected perforation.

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