Anaesthetic management of a child with panthothenate kinase-associated neurodegeneration
نویسندگان
چکیده
منابع مشابه
A Novel Nonsense mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration
Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mutations in PANK2 gene which codes for a mitochondrial enzyme participating in coenzyme A biosynthe...
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Goldenhar syndrome is a congenital disorder involving deformities of the face. It usually affects one side of the face only and poses significant challenges in the airway management. We herein, report an 8-year boy, known case of Goldenhar syndrome, who presented to our radiology suite for a magnetic resonance imaging (MRI) brain, followed by a computed tomography (CT) scan brain. The boy had v...
متن کاملPantothenate - kinase associated neurodegeneration.
Neurodegeneration with brain iron accumulation is a group of disorders, the commonest of which is PKAN (Pantothenate kinase associated neurodegeneration). We present here, a case of 18 year old boy with progressive dementia, pyramidal and extrapyramidal involvement, dysarthria, seizures and myoclonus. The patient was diagnosed as PKAN (formerly Hallervorden Spatz disease) after "eye of tiger" a...
متن کاملPantothenate kinase-associated neurodegeneration
Disease summary: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disorder that was first described by the neuropathologist Julius Hallervorden and the neurologist Hugo Spatz in 1922 [1]. The active involvement of Hallervorden in euthanasia in Germany during World War II and the discovery of the defective gene (mutation in pantothenate kinase 2 gene, located...
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ژورنال
عنوان ژورنال: Indian Journal of Anaesthesia
سال: 2015
ISSN: 0019-5049
DOI: 10.4103/0019-5049.149449