Diagnostic pitfalls in Parkinson's disease: case report

Author:

Sekeff-Sallem Flávio Augusto1,Barbosa Egberto Reis2

Affiliation:

1. Universidade de São Paulo; Hospital do Servidor Público Estadual de São Paulo, Brazil

2. Universidade de São Paulo, Brazil

Abstract

Parkinson's disease (PD) is characterized by resting tremor, rigidity and bradykinesia. In 80% of cases, the disorder begins with upper limb resting tremor. However, there are some presenting atypical features that make the diagnosis even more difficult and intriguing. The disorder can have its onset below 40 years old, characterizing early-onset parkinsonism, which differential diagnosis possibilities are varied. Atypical presentations include a pure akinetic-rigid syndrome, the initial manifestations occurring in the lower limbs, and pain as the most important or sole manifestation. These atypical features are unusual, but can be seen in clinical practice. We present a 37 years old woman with early-onset parkinsonism beginning with an akinetic-rigid syndrome in the lower limbs whose first symptom was left leg pain, which diagnosis was made after 4 years of onset and after 16 referrals to several experts in different fields. We discuss these atypical features and the diagnostic pitfalls in PD.

Publisher

FapUNIFESP (SciELO)

Subject

Neurology,Clinical Neurology

Reference18 articles.

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2. Parkin mutations are frequent in patients with isolated early-onset parkinsonism;Periquet M;Brain,2003

3. Young-onset Parkinson's disease revisited: clinical features,natural history, and mortality;Schrag A;Mov Disord,1998

4. Parkin disease: a phenotypic study of a large case series;Khan NL;Brain,2003

5. Association between early-onset Parkinson's disease and mutations in the parkin gene;Lücking CB;N Engl J Med,2000

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