J Korean Med Sci.  2011 Sep;26(9):1244-1246. 10.3346/jkms.2011.26.9.1244.

Dopa-responsive Dystonia with a Novel Initiation Codon Mutation in the GCH1 Gene Misdiagnosed as Cerebral Palsy

• Lee JH
• Ki CS
• Kim DS
• Cho JW
• Park KP
• Kim S

• KMID: 1779403
• DOI: http://doi.org/10.3346/jkms.2011.26.9.1244

Abstract

Dopa-responsive dystonia (DRD) is a clinical syndrome characterized by childhood-onset dystonia and a dramatic response to relatively low doses of levodopa. However, patients with DRD can be misdiagnosed as cerebral palsy or spastic diplegia due to phenotypic variation. Here we report a young woman with DRD who were severely disabled and misdiagnosed as cerebral palsy for over 10 yr. A small dose of levodopa restored wheelchair-bound state to normality. However, thoracolumbar scoliosis has remained as a sequel due to late detection of DRD. Genetic analysis by using PCR-direct sequencing revealed a novel initiation codon mutation (c.1A>T; p.Met1Leu) in GTP cyclohydrolase 1 (GCH1) gene. Although it is known that DRD can be misdiagnosed as cerebral palsy, this case reinforces the importance of differential diagnosis of DRD from cerebral palsy.

Keyword

Dystonia, Dopa-responsive; GCH1 Gene; Mutation; Cerebral Palsy; Diagnostic Errors

MeSH Terms

Adult
Cerebral Palsy/diagnosis
Codon, Initiator
Diagnosis, Differential
Dystonic Disorders/*diagnosis/drug therapy/*genetics
Female
GTP Cyclohydrolase/*genetics
Humans
Levodopa/therapeutic use
Mutation
Sequence Analysis, DNA

Figure

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  Fig. 1 Chest X-ray show fixed scoliotic deformity. The major scoliosis is concentrated in the thoracic region and curves to the right.

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  Fig. 2 Sequence analysis of the GCH1 gene identified a heterozygous mutation of the first nucleotide (arrow) in the ATG translation initiation site (c.1A>T; p.Met1Leu).

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