Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration
| Autor: | Houssein Darwish, Mohamad A. Mikati, Youssef G. Comair, Amin Yehya, Pascale E. Karam |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
medicine.medical_specialty
Ataxia Deep brain stimulation Deep Brain Stimulation medicine.medical_treatment Mutation Missense Stimulation Gastroenterology Pantothenate kinase-associated neurodegeneration Internal medicine medicine Humans Speech Child Pantothenate Kinase-Associated Neurodegeneration Dystonia Neurodegeneration General Medicine medicine.disease PANK2 nervous system diseases Phosphotransferases (Alcohol Group Acceptor) Treatment Outcome Globus pallidus nervous system Motor Skills Pediatrics Perinatology and Child Health Female Neurology (clinical) medicine.symptom Psychology Neuroscience |
| Zdroj: | European Journal of Paediatric Neurology. 13:61-64 |
| ISSN: | 1090-3798 |
| DOI: | 10.1016/j.ejpn.2008.01.006 |
| Popis: | We report a case of a young girl with early onset pantothenate kinase-kssociated neurodegeneration (PKAN) whose initial clinical manifestation was ataxia at the age of 2.5 years. Subsequently the patient presented to us with refractory severe dystonia resulting in essentially complete loss of motor control. She had a mutation in PANK2 gene consisting of an aminoacid change of Alanine to Valine in exon 5 (A382V). After Globus Pallidus deep brain stimulation (DBS) at the age of 11 years, the patient regained useful motor function and speech with a marked decrease in the severity of the dystonia. The patient's condition gradually returned to her pre-DBS status when the device had to be removed 3 months later due to infection. Our case is the sixth case with classical PKAN that was treated by Globus Pallidus stimulation, the fifth one to have a favorable response to it and the only one in whom response was proven by the inadvertent removal of the DBS device due to infection. In addition, our case had a novel mutation and novel clinical features (onset with ataxia, occurrence of early seizure activity) on top of her other symptoms that were otherwise typical of early onset disease. |
| Databáze: | OpenAIRE |
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