Pantothenate Kinase Associated Neurodegeneration in Two Brothers

Ribeiro, Bruno Niemeyer de Freitas; Salata, Tiago Medina; Antunes, Lívia de Oliveira; Antunes, Beatriz Salata

doi:10.20344/amp.6119

Cited by 1 publication

(1 citation statement)

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“…Patients with PKAN may also present with a variety of psychiatric symptoms, primarily depression and mental deterioration (8). Additionally, magnetic resonance imaging (MRI) of patients with PKAN typically reveals the "eye of the tiger" sign (9). However, the diagnosis of PKAN is ultimately made through molecular genetic testing (8,10).…”

Section: Pantothenatementioning

confidence: 99%

A Male Patient Showing Abnormal Gait and Dysarthria with Psychotic Symptoms

Choi¹,

Lee²,

Cui³

2020

tnd

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Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal-recessive and neurodegenerative disorder associated with progressive motor impairment and mental deterioration. The diagnosis of PKAN consists of clinical features and magnetic resonance imaging (MRI) evidence of iron accumulation in the brain, as well as evidence of mutations in the pantothenate kinase 2 (PANK2) gene. Typical clinical features of PKAN are motor symptoms including dystonia, involuntary movement, rigidity and dysarthria, as well as psychiatric symptoms such as anxiety, depression, and mental retardation. However, psychosis has not been reported often in cases of PKAN. This patient presented with anxiety, a tendency to startle easily, and rapidly deteriorating memory impairment. T2-weighted MRI of his brain indicated a specific pattern of hyperintensity within a hypointense medial globus pallidus with a mutation in the gene encoding PANK2. Components of the basal ganglia, including the globus pallidus, play a key role in motor symptoms, cognition, affect, and mood. The basal ganglia are also a central factor in the pathogenesis of psychiatric symptoms in schizophrenia. These lesions are able to aggravate various psychotic symptoms, cognitive function impairments, and mood disorders because PKAN is affected by abnormal iron deposition in the globus pallidus and substantia nigra pars reticulata.

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