Definition And Description

WEB Shapiro Syndrome: A Rare Neurological Disorder

Definition and Description

WEB Shapiro syndrome (WSS) is a rare neurological disorder characterized by recurrent episodes of excessive sweating and hypothermia. It was first described in 1969 by Shapiro and Plum.

Symptoms

The hallmark symptoms of WSS include:

• Recurrent episodes of excessive sweating (hyperhidrosis)
• Hypothermia (defined as a core temperature below 35°C)
• Other possible symptoms such as developmental delay, seizures, and cardiac abnormalities

Causes and Genetics

The exact cause of WSS is unknown, but it is believed to be caused by a mutation in the gene that encodes the calcium-sensing receptor (CASR). This receptor is responsible for regulating calcium levels in the body, and its dysfunction is thought to lead to the symptoms of WSS.

Diagnosis

WSS is diagnosed based on the patient's symptoms and a physical examination. Genetic testing can confirm the diagnosis.

Treatment

There is no cure for WSS, but treatment can help to manage the symptoms. Treatment strategies include:

• Anticholinergic medications to reduce sweating
• External warming measures to prevent hypothermia
• Anticonvulsants to control seizures
• Supportive care and physical therapy

Prognosis

The prognosis for individuals with WSS varies. Some individuals experience only mild symptoms, while others may have severe complications. The condition is usually lifelong, but the symptoms can become less severe over time.