Authors :
Kyatham Madhulatha; Dr. Sandeep Madineni; Dr. G.Rama Krishna Reddy; Dr. K.Venkat Ram Reddy
Volume/Issue :
Volume 8 - 2023, Issue 1 - January
Google Scholar :
https://bit.ly/3IIfn9N
Scribd :
https://bit.ly/3xd88mT
DOI :
https://doi.org/10.5281/zenodo.7628721
Abstract :
Pantothenate kinase- associated
neurodegeneration (PKAN), formerly known as
Hallervorden-Spatz syndrome, is a rare inherited autosomal
recessive disorder. It is a neurological movement disorder, is
mainly caused by mutation in the PKAN2 gene. PKAN is
the most common type of neurodegeneration with brain iron
accumulation (NBIA).On magnetic resonance imaging
(MRI) of brain, demonstrates eye-of-the-tiger” sign in the
globus pallidus ,which is due to abnormal iron
accumulation. We present a case of a male child with PKAN
presented with delayed milestones predominantly language,
abnormal movements of upper limbs, gait disturbances,
intellectual decline. Similar complaints were present in his
elder sister and she was proven case of pantothenate kinase
2 [PKAN2] gene mutation.
Abbreviations: PKAN-Pantothenate kinase associated
neurodegeneration; NBIA-Neurodegeneration with Brain
Iron Accumulation; MRI- Magnetic Resonance Imaging.
Keywords :
Hallervorden-Spatz syndrome, Eye of tiger appearance, Dystonia, Neurodegeneration, PKAN, dystonia, dementia.
Pantothenate kinase- associated
neurodegeneration (PKAN), formerly known as
Hallervorden-Spatz syndrome, is a rare inherited autosomal
recessive disorder. It is a neurological movement disorder, is
mainly caused by mutation in the PKAN2 gene. PKAN is
the most common type of neurodegeneration with brain iron
accumulation (NBIA).On magnetic resonance imaging
(MRI) of brain, demonstrates eye-of-the-tiger” sign in the
globus pallidus ,which is due to abnormal iron
accumulation. We present a case of a male child with PKAN
presented with delayed milestones predominantly language,
abnormal movements of upper limbs, gait disturbances,
intellectual decline. Similar complaints were present in his
elder sister and she was proven case of pantothenate kinase
2 [PKAN2] gene mutation.
Abbreviations: PKAN-Pantothenate kinase associated
neurodegeneration; NBIA-Neurodegeneration with Brain
Iron Accumulation; MRI- Magnetic Resonance Imaging.
Keywords :
Hallervorden-Spatz syndrome, Eye of tiger appearance, Dystonia, Neurodegeneration, PKAN, dystonia, dementia.