Dados do Trabalho

Título

Association of two diseases and their clinical manifestations: Charcot-Marie-Tooth and hereditary transthyretin amyloidosis

RESUMO

Case presentation: A 41-year-old man presented a history of difficulty walking since he was 5 years old, with stumbling and frequent falls. The condition remained stable until 5 years ago, when he noticed a progressive worsening of gait, with muscle weakness and atrophy in the upper and lower limbs.
On neurological examination, he had decreased thermal and pain sensitivity in the lower limbs and hands, in addition to decreased vibratory sensitivity in the lower limbs He had grade 3 hand strength in the lower limbs (MRC scale) and generalized areflexia. In addition, the patient had signs of dysautonomia, such as erectile dysfunction, orthostatic intolerance, and palpitations.Electroneuromyography revealed severe sensorimotor polyneuropathy. Genetic testing revealed two genetic mutations, PMP22 causing Charcot-Marie-Tooth disease and Val142Ile, a gene responsible for hereditary transthyretin amyloidosis.
Discussion: Charcot-Marie- Tooth disease is a group of hereditary diseases that manifests itself in adolescence or early adulthood, with loss of sensitivity, weakness, deformity and muscle atrophy mainly in the lower limbs, with dysautonomic manifestations not being common. Hereditary amyloidosis courses with progressive polyneuropathy, often associated with dysautonomia, also causing multisystem symptoms such as gastrointestinal impairment, cardiomyopathy, nephropathy, or ocular deposition.
The genetic test provided the opportunity to diagnose two genes that cause peripheral neuropathy, with hereditary amyloidosis being a potentially treatable disease depending on the stage. As the patient was still able to walk with bilateral support, patisiran was indicated and he is awaiting treatment
Final comments: it is important to be aware to atypical signs of a disease looking for other diagnostic alternatives or even concomitant diseases as was this case.

Palavras Chave

amyloidosis; charcot-marie-tooth