Unusual case of levodopa-responsive camptocormia in a patient with negative dopamine transporter scan and normal DYT 5 gene.

OBJECTIVE

To describe an unusual case of camptocormia responding to levodopa.

METHODS

We present a case of camptocormia with a sustained excellent response to levodopa in a patient with negative dopamine transporter and no DYT 5 genetic mutations.

RESULTS

We present a 52-year-old man with 2 years' history of progressive camptocormia, with nearly normal posture while standing and forward trunk flexion close to 90 degrees after walking for less than a minute. His posture completely resolved in the supine position. There were no pyramidal or extrapyramidal signs or dystonia in other locations. Family history was noncontributory except 1 paternal aunt with Parkinson disease. There was no history of antidopaminergic exposure. Workup, including brain, cervical, thoracic, and lumbar spine magnetic resonance imaging and paraspinal muscle electromyography, was unremarkable. Serum ceruloplasmin level was normal. Genetic testing for dopa-responsive dystonia, including GTP cyclohydrolase 1 (GCH 1) and tyrosine hydroxylase (TH) gene mutations (sequencing and deletion), was negative. DYT 6 (THAP1) gene mutation was not found, and dopamine transporter scan imaging obtained 4 years after onset of symptoms was normal. The patient has had an excellent response to levodopa sustained for the past 2 years.

CONCLUSIONS

Levodopa should be considered in camptocormia even when not associated with neurodegenerative parkinsonism or DYT 5 gene mutation.