Der Internist
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A 32-year-old woman with maple syrup urine disease presented with recurring episodes with hypoglycaemia and cerebral seizures. In most cases a connection to the inborn metabolic disorder is assumed, resulting in symptomatic treatment. Due to these treatments invasive procedures are required. ⋯ After 2 years of unexplained symptoms a routine examination led to the diagnosis of factitious disorder. The patient received the offer for psychiatric/psychotherapeutic treatment. Further prognosis remains uncertain.
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The diagnosis of polyneuropathy (PNP) is based on the anamnesis and description of complaints of the patient and clinical findings. The type of distribution as well as known diseases and drug toxic factors can provide indications. Electromyography and electroneurography can be used to differentiate between axonal and demyelinating PNP. ⋯ Depending on the neuropathy and context, the diagnostic approach is structured differently. The special diagnostics for small fiber neuropathy and amyloid neuropathy as well as for diabetes and alcohol abuse are dealt with in detail in this article. Numerous cases of polyneuropathy remain unexplained and regularly have a favourable prognosis.