[Association of Parry-Romberg syndrome and paroxymal kinesigenic dyskinesia].

Abstract

INTRODUCTION:

Parry-Romberg syndrome is a rare entity of unknown etiology, characterized by hemifacial or hemibody atrophy affecting subcutaneous tissues. Its main clinical manifestations are neurological, ocular and dermatological. Paroxysmal kinesigenic dyskinesia (PKD) is characterized by brief episodes of choreic/dystonic movements triggered by sudden movements and improved by antiepileptic drugs particularly carbamazepine. It can be sporadic or familial with an autosomal dominant inheritance. Little is known about the pathophysiology of PKD, although a channelopathy is thought likely. The association of these two diseases is rare.

CASE REPORT:

Over three years, a 42-year-old patient progressively developed left hemiatrophy. Since age 14, he presented paroxysmal dystonic disorders of the limbs triggered by sudden movements and controlled by carbamazepine. The diagnosis of PKD associated with Parry-Romberg syndrome was established. Investigations revealed immunologic and diffuse electrophysiological abnormalities (EEG and EMG).

CONCLUSION:

PKD associated with Parry-Romberg syndrome is very rare but does not appear to be fortuitous. It suggests a common mechanism via an underlying channelopathy or dysimmune disorder.

• Authors: H Mrabet Khiari, S Masmoudi, A Mrabet
• Journal: Revue neurologique (Rev Neurol (Paris)) Vol. 165 Issue 5 Pg. 489-92 (May 2009) ISSN: 0035-3787 [Print] France
• Vernacular Title: Association syndrome de Parry-Romberg et dyskinésie paroxystique kinésigénique.
• PMID: 18930510 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Anticonvulsants
• Carbamazepine

Topics

• Adult
• Anticonvulsants (therapeutic use)
• Carbamazepine (therapeutic use)
• Chorea (complications, drug therapy, genetics, physiopathology)
• Electroencephalography
• Electromyography
• Facial Hemiatrophy (complications, drug therapy, genetics, physiopathology)
• Humans
• Male