Contributions
Abstract: EP1351
Type: ePoster
Abstract Category: Clinical aspects of MS - MS Variants
Objective: To report an unusual case of Harding"s Syndrome, that has remained stable on Lemtrada (alemtuzumab) therapy.
Background: Leber"s Hereditary Optic Neuropathy (LHON) is a common mitochondrial disease characterized by permanent, severe, painless, bilateral loss of vision, as a result of demyelination and atrophy of the optic nerve. Harding"s Syndrome is a phenomenon found in a small proportion of these patients that appear to subsequently develop symptoms of multiple sclerosis (MS). Patients with Harding"s syndrome tend to have a disease indistinguishable from MS. There is no agreed treatment for patients who develop Harding"s Syndrome. Treatment has been left largely to the clinician"s discretion.
Methods / Results: A male patient, with no past medical history, initially presented at the age of 27 with a two month history of blurred vision and pain in his left eye. One year later he had bilateral optic neuritis with permanent but mild visual loss (RVA 6/6+2, LVA 6/9-2). Investigations revealed several areas of high signal in the white matter including in the left optic tract and periventricular areas on MRI and a mitochondrial point mutation at 14484 in keeping with Leber"s Hereditary Optic Neuropathy. He developed relapsing-remitting MS eight years later and was treated with capaxone. Unfortunately he suffered multiple relapses and was therefore switched to Lemtrada. The patient has remained clinically stable for 3 years with no further relapses whilst on treatment (his EDSS has remained unchanged at 3.5). Sequential MRI imaging has demonstrated some improvement in demyelinated areas and no evidence of active inflammation in the last 3 years.
Conclusions: We present an unusual case of a male patient, with a rare 14484 LHON mutation, who presented with mild painful vision loss. This gentleman developed an aggressive MS phenotype and was subsequently stabilised clinically and radiologically on initiation with Lemtrada.
Disclosure: Dr. Sonia Kumari: nothing to disclose
Dr. Gordon Mazibrada: has served at advisory boards for Biogen, Merck, Teva, Novartis, Genzyme and Roche and our MS department has received funding from those companies for research projects and service developments.
Abstract: EP1351
Type: ePoster
Abstract Category: Clinical aspects of MS - MS Variants
Objective: To report an unusual case of Harding"s Syndrome, that has remained stable on Lemtrada (alemtuzumab) therapy.
Background: Leber"s Hereditary Optic Neuropathy (LHON) is a common mitochondrial disease characterized by permanent, severe, painless, bilateral loss of vision, as a result of demyelination and atrophy of the optic nerve. Harding"s Syndrome is a phenomenon found in a small proportion of these patients that appear to subsequently develop symptoms of multiple sclerosis (MS). Patients with Harding"s syndrome tend to have a disease indistinguishable from MS. There is no agreed treatment for patients who develop Harding"s Syndrome. Treatment has been left largely to the clinician"s discretion.
Methods / Results: A male patient, with no past medical history, initially presented at the age of 27 with a two month history of blurred vision and pain in his left eye. One year later he had bilateral optic neuritis with permanent but mild visual loss (RVA 6/6+2, LVA 6/9-2). Investigations revealed several areas of high signal in the white matter including in the left optic tract and periventricular areas on MRI and a mitochondrial point mutation at 14484 in keeping with Leber"s Hereditary Optic Neuropathy. He developed relapsing-remitting MS eight years later and was treated with capaxone. Unfortunately he suffered multiple relapses and was therefore switched to Lemtrada. The patient has remained clinically stable for 3 years with no further relapses whilst on treatment (his EDSS has remained unchanged at 3.5). Sequential MRI imaging has demonstrated some improvement in demyelinated areas and no evidence of active inflammation in the last 3 years.
Conclusions: We present an unusual case of a male patient, with a rare 14484 LHON mutation, who presented with mild painful vision loss. This gentleman developed an aggressive MS phenotype and was subsequently stabilised clinically and radiologically on initiation with Lemtrada.
Disclosure: Dr. Sonia Kumari: nothing to disclose
Dr. Gordon Mazibrada: has served at advisory boards for Biogen, Merck, Teva, Novartis, Genzyme and Roche and our MS department has received funding from those companies for research projects and service developments.