Acute Onset of a Movement Disorder in Early Childhood: A Family with Rapid Onset Dystonia-Parkinsonism Syndrome

The Rapid Onset Dystonia Parkinsonism Syndrome is characterized by a sudden onset of dystonia in combination with Parkinson like symptoms as bradykinesia and postural instability. The typical affection pattern shows a gradient from rostral to caudal with bulbar signs and an insufficient response to l-Dopa. Frequently, triggers can be found (e.g., infections, fever, and emotional stress etc.). Dystonia-Parkinsonism Syndrome (RPD) can be caused by several missense-mutations in ATP1A3 gene.

Case Report: We present the case of a 15-month-old girl with until this day normal development, admitted with a probable febrile seizure after first MMRV vaccination. At time of admission, she showed an impaired consciousness and a pathological movement pattern. In the following hours, she developed signs of dystonia with athetosis, bradykinesia with typical gradient, dysphagia as well as intermittent but significant agitation. Blood and cerebrospinal fluid samples as well as magnetic resonance imaging (MRI) and electroencephalography could not prove any sign of encephalitis. The mother of the girl presented herself light signs of dysarthria and ataxia. According to her, she had gone through encephalitis in early childhood as well as her mother. Furthermore, her brother developed similar symptoms in later childhood but not in that acute course. In the old documents of the mother, there was described a similar acute disease at the age of 12 months. Therefore, we suspected an acute manifestation of an autosomal-dominant movement disorder. The genetic analysis confirmed the mutation on the ATP3A1 gene for our girl and his mother. The grandmother was already deceased; the uncle refuses a genetic testing at that time.

Undergoing symptomatic therapy, we could state a spontaneously stabilization of the symptoms, the further neurological development is going to be observed.

The typical age of onset of RPD ranges from 4 to 55 years. Early manifestations < 4 years of age have only been described in combination with a variant of RPD beginning initially with motor delay, ataxia, and muscular hypotonia. Our family presents an unusual early manifestation of the acute onset type of RPD. The clinical features are demonstrated by video.