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Abstract Details

Movement Disorder as the Clinical Presentation of Porphyria: A Case Report
Movement Disorders
P03 - (-)
056
BACKGROUND: Porphyria is a group of metabolic disorders caused by deficiency of different enzymes in the heme biosynthetic pathway. The major manifestations of acute hepatic porphyria are neurologic including abdominal pain, neuropathy, and seizures.
DESIGN/METHODS: This is the case of a 22 years-old man that presented for evaluation of tremor.
RESULTS: The patient had an 8 month history of fluctuating gastrointestinal symptoms including abdominal cramps and constipation. After worsening of his gastrointestinal complaints, he developed episodes of confusion, generalized weakness, and tremor. A bilateral asymmetric postural tremor with bradykinesia and dysdiadokokinesia and right foot dystonia were observed during evaluation. Workup revealed normal blood cell count, liver function, thyroid studies, RPR, HIV, and Lyme. Brain MRI and nerve conduction studies were essentially normal. However, urine studies for coproporphyrin, porphobilinogen, and 5-aminolevulinic acid (ALA) were elevated consistent with the diagnosis of porphyria.
CONCLUSIONS: We must be aware of other possible clinical presentations of porphyria to initiate treatment early and diminish complications related to the disease.
Authors/Disclosures
Valerie Rundle-Gonzalez, MD (Medical Injury Rehabilitation Specialists)
PRESENTER 		No disclosure on file
Zhigao Huang, MD, PhD (Baptist Medical Center) No disclosure on file
John Corboy, MD, FAAN (U of Colorado School of Medicine) Dr. Corboy has received personal compensation for serving as an employee of U of Coloado. Dr. Corboy has received personal compensation for serving as an employee of Rocky Mountain MS Center. Dr. Corboy has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Mylan. Dr. Corboy has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Bristol Myers Squib. Dr. Corboy has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for AAN. Dr. Corboy has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for American Neurological Association. Dr. Corboy has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Mylan. The institution of Dr. Corboy has received research support from MedDay. The institution of Dr. Corboy has received research support from Novartis. The institution of Dr. Corboy has received research support from NMSS. The institution of Dr. Corboy has received research support from PCORI. The institution of Dr. Corboy has received research support from EMD Serono.