RESUMO
OBJECTIVE: To characterize the clinical features of isolated elevated plasma homocysteine (eHcy)-induced peripheral neuropathy (IHIN) in adults. METHODS: Charts of subjects with the diagnosis of IHIN who visited neuromuscular clinic from January 01, 2012 to September 30, 2014 were reviewed. Subjects with identifiable etiologies for neuropathy, such as B12/folate deficiency; metabolic, toxic, endocrinologic, infectious/inflammatory renal or liver diseases; or traumatic nerve injury, were excluded. Their clinical presentations were recorded and analyzed. RESULTS: Thirty subjects (age: 63.2 ± 14.8 years, 13 males) were included. They all had an isolated increased homocysteine level (15.4 ± 5.3 µmol/L) but normal levels of B12, folate, and methylmalonic acid. Of 30, 14 (46.7%) had numb feet, 11 (36.7%) had numb hands, 7 (23.3%) had pain in lower extremities, and 10 (33.3%) had tingling in feet. Distal sensory deficits were present in 18/30 (60%) patients. Distal limb weakness was seen in 4 and decreased tendon reflexes in 12 patients. CONCLUSIONS: Sensory deficits are predominant components of IHIN. Characterizing clinical features of IHIN would help better understand eHcy-related neuropathy and improve its management.
Assuntos
Homocisteína/metabolismo , Doenças do Sistema Nervoso Periférico/etiologia , Doenças do Sistema Nervoso Periférico/metabolismo , Deficiência de Vitamina B 12/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
A 71-year-old man developed clinical signs of Kennedy disease including dysarthria, dysphagia, palatal and oral mandibular fasciculations, lower-extremity weakness, gynecomastia, and testicular atrophy. Electrophysiologic studies showed sensory axonal polyneuropathy and chronic neurogenic changes of large-motor unit action potentials with decreased recruitment. Genetic analysis showed a normal 17-CAG repeat sequence. Laboratory studies showed an increased estrogen level of 180 to 220 pg/mL, probably related to his alcoholic fatty liver disease. Splenomegaly was present by ultrasound. The increased level of estrogen adversely affected estrogen-sensitive cells in breast, testicular, neuronal, and muscle cells, leading to the clinical phenotype.