Juvenile levodopa‐responsive Parkinsonism with early orobuccolingual dyskinesias and cognitive impairment

Abstract

A 13-year old girl presented with slowly progressive rest tremor of the hands, bradykinesia, and rigidity. The symptoms improved with dopaminergic medications, but severe drug-induced dyskinesias developed early. She subsequently developed cognitive slowing and difficulty initiating saccadic eye movements. She went on to have deep brain stimulation surgery. Experts discuss the syndromal diagnosis and predict the underlying pathology. The pathological diagnosis is given and clinical learning points are considered.

Non-convulsive status epilepticus associated with neuronal intranuclear inclusion disease: A case report and literature review

“…However, Sone et al reported the usefulness of skin biopsy for diagnosing NIID in 2011 [4], after which a wide range of clinical manifestations have been demonstrated in patients with adult-onset NIID including cognitive impairment, pyramidal and extrapyramidal symptoms, cerebellar ataxia, neuropathy, and autonomic dysfunction [4], [5]. With regard to epilepsy, seizure-like episodes such as recurrent syncope or falls have only been reported in six adults with NIID, although children with this disease often have seizures [1], [2], [3], [11], [12], [13]. Espay et al reported a 20-year-old woman with recurrent episodes of momentary loss of consciousness accompanied by mood changes, in whom EEG also demonstrated generalized periodic discharges [3].…”

“…With regard to epilepsy, seizure-like episodes such as recurrent syncope or falls have only been reported in six adults with NIID, although children with this disease often have seizures [1], [2], [3], [11], [12], [13]. Espay et al reported a 20-year-old woman with recurrent episodes of momentary loss of consciousness accompanied by mood changes, in whom EEG also demonstrated generalized periodic discharges [3]. In addition, Toyota et al reported a 70-year-old woman with recurrent falls, in whom EEG revealed mid-temporal spikes and sharp waves [13], but there were no features of NCSE associated with GPDs like our case.…”

“…Neuronal intranuclear inclusion disease (NIID) is a rare and slowly progressive neurodegenerative disease that has been reported as both sporadic and familial cases. The cardinal symptoms of NIID are slowly progressive dementia associated with parkinsonism, cerebellar ataxia, and peripheral neuropathy [1], [2], [3]. In addition, the disease is also associated with various types of seizures in adult and pediatric patients [2], [3].…”

“…The cardinal symptoms of NIID are slowly progressive dementia associated with parkinsonism, cerebellar ataxia, and peripheral neuropathy [1], [2], [3]. In addition, the disease is also associated with various types of seizures in adult and pediatric patients [2], [3]. Immunohistochemical examination of biopsy specimens from the skin or subcutaneous abdominal fat was recently reported to be useful for diagnosis of NIID [4], [5].…”

“…Immunohistochemical examination of biopsy specimens from the skin or subcutaneous abdominal fat was recently reported to be useful for diagnosis of NIID [4], [5]. Case reports about patients with this disease have been gradually increasing, demonstrating considerable variation of its symptoms and clinical course [2], [3]. However, genetic analysis for NIID or diagnostic criteria for this disease has not been established to date.…”