Ekbom Syndrome: Ataxia, Myoclonus, and Cervical Lipomas

A 69-year-old male presented with 15 years duration of progressive unsteadiness gait, incoordination in upper limbs, and mild cognitive impairment. He required assistance to walk 10 into the illness. also had multiple lipomas around his shoulders neck that were noticed since 40 age; several them been removed surgically past. There was no history visual or hearing impairment, loss consciousness, seizures, tendon xanthomas, malabsorption. Family significant for a number relatives ataxia, lipomas, sudden death on maternal side family. General examination revealed back (white arrows Fig, A–C). On neurologic examination, he normocephalic normal extraocular movements. noted have dysarthria, titubation, ataxia dysmetria involving all 4 limbs occasional myoclonic movements lower extremities. Deep reflexes not elicitable. Magnetic resonance imaging brain moderate cerebral cerebellar volume without any signal changes (see B–E). Neuroimaging lobulated fat density masses present subcutaneously neck, consistent B, C). Cardiac workup electrocardiogram echocardiogram normal. Surface electromyogram demonstrated electrophysiological evidence myoclonus affecting bilateral Nerve conduction study length-dependent axonal sensorimotor peripheral neuropathy, needling did show convincing suggest primary muscle involvement. Clinical features gradually myoclonus, pedigree suggestive mitochondrial pattern inheritance epilepsy ragged-red fibers (MERRF). Mitochondrial genome analysis detected common pathogenic variant MERRF (MT-TK mtDNA change: m.8344A>G at 65% heteroplasmy level), confirming diagnosis. Muscle biopsy done, as diagnosis established by genetic testing. initiated cocktail is under follow-up. childhood late onset maternally inherited disorder characterized multisystem involvement epilepsy, decline, optic atrophy, biopsy.1 Cardiomyopathy lipomatosis trunk described association MERRF.2 The syndrome photomyoclonus, skeletal deformities, dementia, pes cavus Karl Ekbom 1975 has referred syndrome.3 keen observer who credited distinct clinical syndromes bear name, including restless legs (Willis–Ekbom syndrome) delusional parasitosis (Ekbom syndrome). Later studies causative mutation tRNALys A8344G responsible MERRF.4 Lipomatosis disorders usually restricted axial regions body mirrors distribution brown fat. Brown essential thermoregulation depends uncoupling carrier protein 1 oxidation phosphorylation pathway. Because this pathway coupled lipolysis fat, dysfunction leads reduced uptake free fatty acids, might lead lipid accumulation lipoma formation.2 Multiple are an important clue suspect patient phenotype manifestations. We thank participating study. No funds utilized regard publication. K.M. R.D. contributed conception design study; J.P.F. E.D.D.-D. acquisition data; K.M., E.D.D.-D., drafting text preparing figure. Nothing report.