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mevalonate kinase deficiency/asthenia

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A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness.

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This case follows a 14-month-old female, who despite multiple presentations to several physicians, continued to have recurrent febrile episodes with gross motor delay. Her case revealed an often missed diagnosis of Mevalonate Kinase Deficiency, that now has an FDA approved treatment

[Marshall syndrome: results of a retrospective national survey].

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Marshall's syndrome or periodic fever syndrome was first described in 1987 in the USA based on observations of 12 children under the age of five with periodic fever (> 38 degrees C) and accompanying aphtous stomatitis, pharyngitis, and cervical adenopathy (PFAPA). In 1998, a national retrospective

[PFAPA Syndrome: Current Standard of Knowledge and Relevance for the ENT Specialist].

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BACKGROUND The symptoms fever, aphthous stomatitis, pharyngitis and cervical lymph node enlargement are among the most frequent complaints that particularly make children and adolescents consult an ENT specialist. In cases where these symptoms occur periodically, a PFAPA syndrome may be
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