title: A patient with multiple sclerosis and Down's syndrome with a rare paroxysmal symptom at onset.
abstract: Down's syndrome (DS) is often associated with autoimmune diseases, although an association with multiple sclerosis (MS) has not been previously reported. A 49-year-old male with DS experienced progressively worsening gait and bladder dysfunction. Following Poser criteria, the patient was diagnosed with laboratory-supported definite MS. Ten days following diagnosis the patient experienced dysestetic paroxysmal pain at the pelvic level (an uncommon complaint in MS) which was initially addressed with carbamazepine, resulting in mild relief and adverse effects consisting of increased motor deficit and decreased daytime alertness. A titration combination of lamotrigine and gabapentin, two relatively new antiepileptic drugs which have been utilized individually for a number of neurological symptoms, resulted in significant reduction in pain frequency and intensity, with no adverse effects. This case study presents details of the first reported association of DS and MS, between which the pathogenetic relationship remains unclear. The presence of a rare symptom complaint in MS, as well as the effective combination of lamotrigine and gabapentin for treating this symptom, without adverse effects is an additional interesting aspect of this case.
authors.affiliation: Department of Neurological Sciences and Rehabilitation, University of Genoa, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Solaro
authors.forename: M M
authors.initials: MM
authors.lastname: Uccelli
authors.forename: G L
authors.initials: GL
authors.lastname: Mancardi
mesh_terms: D000085:Acetates / Q000627:therapeutic use; D000588:Amines; D001921:Brain / Q000473:pathology; D003509:Cyclohexanecarboxylic Acids; D004314:Down Syndrome / Q000150:complications* / Q000503:physiopathology; D018691:Excitatory Amino Acid Antagonists / Q000627:therapeutic use; D000077206:Gabapentin; D006801:Humans; D000077213:Lamotrigine; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000150:complications* / Q000188:drug therapy / Q000503:physiopathology; D017699:Pelvic Pain / Q000209:etiology; D014227:Triazines / Q000627:therapeutic use; D005680:gamma-Aminobutyric Acid
chemical_list: D000085:Acetates; D000588:Amines; D003509:Cyclohexanecarboxylic Acids; D018691:Excitatory Amino Acid Antagonists; D014227:Triazines; D005680:gamma-Aminobutyric Acid; D000077206:Gabapentin; D000077213:Lamotrigine