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Status dystonicus (SD), also termed as “dystonic storm,” is defined as increasingly frequent and severe episodes of generalized dystonia, requiring medical attention at the earliest.[1] Penn and Jankovic described this rare condition in the year 1982.[2] SD is the severe and life threatening stage of evolution of primary or secondary dystonia.[3] The risk of a dystonic storm developing is directly proportional to the severity of dystonia.[4] To the best of our knowledge, this is the first report of ataxia telangiectasia (AT) presenting as refractory status dystonicus.

A 10-year-old boy presented in 2012 with a history of abnormal limb movements since the age of 2 years. He was the first born child of a nonconsanguineous marriage with a normal antenatal history. He developed imbalance on walking at 18 months of age with upper limb incoordination and an abnormal dystonic neck posturing. Gait imbalance worsened over time and he also developed recurrent chest infections. The parents noticed redness of his eyes at this time. There was no history of jaundice, skeletal deformities, seizures, myoclonus, drop attacks or mental retardation.

On general examination, the patient was conscious and alert and did not have any dysmorphic features. Neurological examination showed features of pan-cerebellar ataxia, oculomotor apraxia, ocular telangiectasia [Figure 1], and slow saccades with broken pursuits. Deep tendon reflexes were normal and the plantar reflex was flexor.