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Case report: Atipical late onset pompe disease in a 36 year patient with spastic paraparesis

RESUMO

Case report: Male, 36 years old, smoker 1 pack of cigarette per day for 20 years, without previous comorbidities, with cosanguinous parents (cousins). Patient refers lower limb paresis, initially on the right distal, with progressive worsening and spasticity, started three years ago. Refers 8 kg loss of weight in the period. He denies alteration of upper limbs. Report six months ago, beginning of dysphagia for liquids and dysphonia. Neurological physical examination shows dysphonic speech, muscle strength grade IV- in lower limbs with spastic rigidity, exalted reflex in lower limbs without signs of pyramidal release and a spastic gait. Serological tests for HIV and syphilis are negative. Brain Magnetic resonance imaging (MRI) without alterations and cervical, thoracic and lumbar spine MRI with normal spinal Cord sign. Electromyoneurography (ENMG) with Carpal tunnel syndrome. Positive genetic test for Pompe disease.
Discussion: Pompe disease (PD), or glycogen storage disease type II, is a rare inherited autosomal recessive disease caused by a deficiency in acid alpha-glucosidase (GAA) enzyme. The late-onset phenotype results from an incomplete GAA deficiency, which appears later in childhood, in adolescence or in adulthood. It is characterized by a slowly progressive myopathy. The diagnosis of late-onset Pompe disease (LOPD) is still challenging and often quite delayed. It is not unusual for patients to go undiagnosed for many years as screening for PD is often overlooked or delayed in adults. LOPD it is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart. Most individuals experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. The treatment incluid enzyme replacement therapy. A drug called alglucosidase alfa is given intravenously. It may help reduce the buildup of glycogen inside cells, and slow the progression of the disease.
Final comments: The present case of a patient with adult-onset progressive spastic paraparesis with a positive genetic test for pompe's disease. A clinical manifestation not commonly seen in late-onset Pompe disease.

Palavras Chave

Pompe disease; glycogen storage disease type II; late onset pompe disease; spastic paraparesis

Área

Doenças Neuromusculares