Which are the symptoms of Benign Paroxysmal Tonic Upgaze?

Symptoms of Benign Paroxysmal Tonic Upgaze

Benign Paroxysmal Tonic Upgaze (BPTU) is a rare neurological disorder that primarily affects infants and young children. It is characterized by abnormal eye movements, specifically a sustained upward gaze deviation. Here are the key symptoms associated with BPTU:

1. Persistent upward gaze: The hallmark symptom of BPTU is the sustained upward deviation of the eyes. Affected individuals typically have difficulty looking downward, and their eyes tend to remain fixed in an upward position. This abnormal eye movement is present even when the child is asleep.

2. Head tilting: To compensate for the upward gaze, individuals with BPTU often tilt their heads backward or to the side. This head position helps them maintain a more natural field of vision and may alleviate discomfort caused by the abnormal eye movement.

3. Normal eye movements in other directions: While BPTU primarily affects upward gaze, individuals with this condition typically have normal eye movements in other directions. They can look side to side and downward without any difficulty.

4. Absence of other neurological abnormalities: BPTU is usually an isolated condition and does not cause other neurological deficits. Children with BPTU typically have normal development and intelligence, with no associated cognitive or motor impairments.

5. Onset in infancy or early childhood: BPTU typically presents within the first year of life or during early childhood. The exact age of onset may vary, but symptoms are usually noticeable by the age of 3 years.

6. Paroxysmal episodes: While the upward gaze deviation is persistent, it may also occur in paroxysmal episodes. These episodes can last from seconds to minutes and may be triggered by excitement, stress, or fatigue. During these episodes, the abnormal eye movement becomes more pronounced.

7. Improvement with age: In many cases, the symptoms of BPTU gradually improve over time. The upward gaze deviation may become less pronounced, and head tilting may diminish or disappear as the child grows older. By adolescence, most individuals with BPTU no longer experience significant symptoms.

8. Normal eye examination: Despite the abnormal eye movements, individuals with BPTU typically have normal eye examinations. There are no structural abnormalities or visual impairments associated with this condition.

It is important to note that the symptoms of BPTU can vary among affected individuals. Some may experience more severe or prolonged episodes, while others may have milder symptoms. If you suspect your child may have BPTU, it is crucial to consult with a healthcare professional for an accurate diagnosis and appropriate management.