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Mystery Diagnosis IV
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Mystery Diagnosis IV

In any given year, nearly 21 million American adults are diagnosed with a mood disorder.  Our patient Brittany DiCapua shares her story of mental and physical symptoms that appeared suddenly and inexplicably in a very special “mystery diagnosis.”

History of Anti-NMDA Receptor Encephalitis

Source: NCBI
Since its discovery in 2007, the encephalitis associated with antibodies against the N-methyl-D-aspartate receptor (NMDAR) has entered the mainstream of neurology and other disciplines. Most patients with anti-NMDAR encephalitis develop a multistage illness that progresses from psychosis, memory deficits, seizures, and language disintegration into a state of unresponsiveness with catatonic features often associated with abnormal movements, and autonomic and breathing instability. The disorder predominantly affects children and young adults, occurs with or without tumour association, and responds to treatment but can relapse. The presence of a tumour (usually an ovarian teratoma) is dependent on age, sex, and ethnicity, being more frequent in women older than 18 years, and slightly more predominant in black women than it is in white women. 

What is Anti-NMDA Receptor Encephalitis?

Source: The Anti-NMDA Receptor Encephalitis Foundation
The role of the tumour in producing Anti-NMDA receptor encephalitis is not fully known and is the subject of ongoing research. What is known is that most tumours associated with anti-NMDA receptor encephalitis contain neural tissue (tissue containing cells identical to that found in the brain), and NMDA receptors. It is presumed that antibodies are initially formed against NMDA receptors found within tumours, and then attack similar-looking receptors in the brain producing the symptoms and signs associated with anti-NMDA receptor encephalitis.

What are the main symptoms?

  • Flu-like symptoms
  • Memory deficits, including loss of short-term memory;
  • Sleep disorders;
  • Speech dysfunction – the patient is no longer able to produce coherent language or may be completely unable to communicate
  • Cognitive and behavioural disturbances – confused thinking, hallucinations, delusional thinking, disinhibited behaviours;
  • Seizures;
  • Movement disorders – usually of the arms and legs and the mouth and tongue, but may include full body spasms. These types of movements are very common in Anti-NMDA Receptor Encephalitis and the patient is unable to control them. They are often quite severe, requiring the patient to be restrained and sedated for their own safety and those of their care-givers. Sometimes patients are unable to move, and may appear like a statue, holding the same position for hours or days (catatonia);
  • Loss of consciousness – The patient may be semi-conscious or may slip into a coma;
  • Autonomic dysfunction – erratic breathing, heartbeat and blood pressure; loss of bladder control and bowel movements;
  • Central hypoventilation – the patient may stop breathing, and may require a mechanical breathing machine.
  • Vision and/or hearing may also be impaired.

The vast majority of patients experience a combination of symptoms and signs from the above list. Symptoms may come and go over the course of the illness. Rarely (<5% of cases), psychiatric symptoms (hallucinations, mood disturbances, delusions) may be the only symptom of anti-NMDA receptor encephalitis. Many people complain of flu-like symptoms around the time that their disease begins. The possibility that an infection triggers or contributes to the development of anti-NMDA receptor encephalitis is being actively considered in research.

What is the treatment?

Source: The Anti-NMDA Receptor Encephalitis Foundation

Tumour removal is a very important part of treatment.. Patients who have a tumour that is removed, recover faster and are less likely to experience a recurrence (or relapse) of their disease than those in whom no tumour is found. All patients suspected of suffering from anti-NMDA receptor encephalitis should be screened for the presence of tumours. This is usually done with imaging (CT or MRI) of the chest, abdomen and pelvis. Women should also receive an ultrasound of the ovaries, and men should receive an ultrasound of the testes. Even after removal, tumours can regrow. Therefore, people with anti-NMDA receptor encephalitis should be checked periodically for the presence (or recurrence) of tumours.

In many people with anti-NMDA receptor encephalitis a tumour is never found. This may be because the tumour is too small to detect with imaging techniques, or because it has been destroyed by the immune system, or there is no tumour. In cases not associated with a tumour, it is not known what causes anti-NMDA receptor encephalitis.

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