ABSTRACT
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a neurodegenerative disease that involves both the upper and lower motor neurons. Familial ALS, including superoxide dismutase 1 (SOD1) mutation, accounts for 5-10% of all cases of ALS. Typically, the symptoms of ALS are purely motor, though coexistent sensory symptoms have been reported in rare cases. In this report, we describe the case of a 47-year-old man who presented with progressive bilateral lower limb weakness and numbness for the last four years. A nerve conduction study (NCS) showed evidence of coexistent axonal sensorimotor polyneuropathy in addition to the typical findings of ALS in needle electromyography. Genetic testing confirmed the diagnosis of familial ALS secondary to the SOD1 genetic mutation. This report highlights that the presence of sensory symptoms should not exclude the possibility of ALS in an appropriate clinical setting.
ABSTRACT
Hashimoto`s encephalopathy is a rare neurological syndrome occurring in patients with autoimmune thyroid disease. The diagnosis of Hashimoto`s encephalopathy is based on the clinical picture with the presence of serum anti-thyroid antibodies regardless of the thyroid disorder. Acquired cerebellar ataxia associated with Hashimoto`s disease is a rare occurrence. In this article, we present a case who had progressive non-familial autoimmune pancerebellar disease in association with an increased level of thyroid peroxidase and thyroglobulin antibodies. The patient was managed aggressively with both intravenous immunoglobulins and plasma exchange, which stopped the progression of the disease and allowed for slow improvement. Early diagnosis of Hashimoto`s encephalopathy with autoimmune cerebellar ataxia and intervention with immunomodulatory therapy are of paramount importance. Close monitoring after steroid therapy is important since some patients with this rare disease might be resistant to steroid therapy and require aggressive immunomodulatory therapy.
