Dados do Trabalho

Título

Case Report: Dysautonomia in Spastic Paraplegia type 5A (SPG5A)

RESUMO

Case Presentation: A 26-years-old woman presented with slowly progressive weakness and stiffness in her legs, followed by urinary incontinence. She also reported dizziness when standing with frequent falls and changes in the color of her toes associated with swelling when the weather is cold. Physical examination revealed persistent painless toes cyanosis and neurological examination showed crural spastic paraparesis, patellar and ankle hyperreflexia, bilateral Babinski sign and distal impairment of all sensory modalities in lower limbs. Neuroimaging studies were unremarkable. Tilt test demonstrated postural hypotension and urodynamic study reveals detrusor overactivity and stress urinary incontinence. Genetic testing identified the pathogenic variant c.825T>A (p.Tyr275*) in homozygosity in the CYP7B1 gene associated with hereditary spastic paraplegia 5A (SPG5A). Discussion: The chronic phase of spinal cord injury may present with dysautonomia, including urinary dysfunction, orthostatic hypotension, and even impaired regulation of the body extremities due to loss of vasomotor tone in lower limbs. Neurogenic bladder, postural hypotension, sexual dysfunction, and decreased sweat output have been associated with different SPG subtypes. However, to our best knowledge, we did not find any case reports with an association between these symptoms and SPG5A. In this case, the presence of postural hypotension, urinary incontinence and cold-induced acrocyanosis suggest impairment of the autonomic nervous system. Final comments: Our case expands current knowledge about the association between SPG5A and autonomic disturbances. We conclude that autonomic involvement may be underrecognized in the different SPG subtypes.

Palavras Chave

Hereditary spastic paraplegia (HSP) ; hereditary spastic paraplegia 5A (SPG5A); dysautonomia

Área

Doenças Neuromusculares