How is Marshall syndrome - PFAPA diagnosed?

Marshall syndrome, also known as periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, is a rare autoinflammatory disorder that primarily affects children. It is characterized by recurrent episodes of fever, sore throat, mouth ulcers, and swollen lymph nodes in the neck. The exact cause of Marshall syndrome is unknown, but it is believed to be related to an abnormal immune response.

Diagnosing Marshall syndrome can be challenging as there is no specific test or marker for the condition. Instead, the diagnosis is made based on a combination of clinical features, medical history, and ruling out other possible causes of recurrent fever and symptoms.

Medical History: The first step in diagnosing Marshall syndrome is a thorough medical history. The doctor will ask about the frequency, duration, and pattern of fever episodes, as well as any associated symptoms such as sore throat, mouth ulcers, and swollen lymph nodes. It is important to provide detailed information about the timing and duration of each episode.

Physical Examination: A physical examination will be conducted to assess the presence of swollen lymph nodes in the neck and any other signs of inflammation. The doctor will also examine the mouth for ulcers or other abnormalities.

Exclusion of Other Conditions: Since the symptoms of Marshall syndrome can overlap with other conditions, it is important to rule out other possible causes of recurrent fever and symptoms. This may involve conducting various tests, including:

• Blood Tests: Blood tests can help evaluate the levels of inflammatory markers, such as C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). These markers are often elevated during episodes of inflammation.


• Throat Swab: A throat swab may be taken to check for the presence of bacteria, such as Streptococcus, which can cause similar symptoms.


• Imaging Studies: In some cases, imaging studies like ultrasound or computed tomography (CT) scan may be performed to assess the size and characteristics of lymph nodes or to rule out other underlying conditions.


• Genetic Testing: Although not routinely done, genetic testing may be considered in certain cases to identify specific gene mutations associated with autoinflammatory disorders.

Response to Treatment: One of the key features of Marshall syndrome is the rapid response to treatment with corticosteroids, such as prednisone. If a child experiences a complete resolution of symptoms within a few hours or days of starting corticosteroid treatment, it can support the diagnosis of PFAPA syndrome.

Diagnostic Criteria: While there is no definitive diagnostic test for Marshall syndrome, several sets of diagnostic criteria have been proposed to aid in the diagnosis. The most commonly used criteria include:

• Recurrent fevers lasting 3-6 days


• Recurrent sore throat


• Recurrent mouth ulcers


• Recurrent cervical lymphadenopathy (swollen lymph nodes in the neck)


• Exclusion of other causes of recurrent fever


• Regular periodicity of symptoms


• Complete resolution of symptoms between episodes


• Positive response to corticosteroid treatment

It is important to note that the diagnosis of Marshall syndrome is clinical and based on a combination of symptoms and exclusion of other conditions. The diagnostic criteria can vary slightly among different medical professionals and institutions.

Once a diagnosis of Marshall syndrome is established, it is important to educate the patient and their family about the nature of the condition, its expected course, and available treatment options. Regular follow-up visits with a healthcare provider are necessary to monitor the child's symptoms and response to treatment.