Kwang-Kuk Kim

Reversible Aggravation of Neurological Deficits after Steroid Medication in Patients with Venous Congestive Myelopathy Caused by Spinal Arteriovenous Malformation

Steroids are empirically used to medicate patients with myelopathy of unknown etiology. We report the reversible aggravation of neurological status after steroid administration in a patient with venous congestive myelopathy (VCM). We retrospectively evaluated 36 patients with angio-graphically confirmed spinal arteriovenous malformation (SAVM) from a prospectively collected neurointerventional database. We evaluated steroid medication and neurological aggravation using Aminoff grading and analyzed using Fishers exact test whether steroid medication is related to neurological aggravation and spinal cord edema as demonstrated on MR T2-WI. Among 26 patients who had been treated with steroids, ten had aggravated neurological deficits. The aggravation in these ten patients was related to the steroid medication (P = 0.039 in all patients) and only marginally to VCM with spinal cord edema as seen on T2-WI (P = 0.074). Aggravation caused by using a high intravenous dose (250–1000 mg) of methylprednisolone or dexamethasone at 8–20 mg/day slowly decreased after stopping the steroid medication. Steroids were reversibly detrimental in patients with VCM caused by SAVM. A history of neurological aggravation after the use of steroids may suggest the diagnosis of SAVM associated with VCM.

Surgical treatment of delayed epilepsy in hemiconvulsion-hemiplegia-epilepsy syndrome

Objective: Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is an uncommon consequence of prolonged febrile convulsive seizures in infancy and early childhood. Delayed epilepsy in HHE syndrome is frequently intractable to medical treatment. The present study evaluated the role and prognosis of surgical treatment in patients with delayed epilepsy of HHE syndrome. Methods: We included 26 consecutive patients who were diagnosed with HHE syndrome and underwent surgical treatment for delayed epilepsy at Seoul National University Hospital. The multidisciplinary presurgical evaluations included brain MRI, video-EEG monitoring, FDG-PET, and ictal SPECT. Anterior temporal lobectomy (ATL), cortical resection, functional hemispherectomy, and callosotomy were performed according to the results of presurgical evaluations. Results: Patients were grouped into either the temporal lobe epilepsy (TLE) group (n = 12) or the neocortical/multifocal epilepsy group (n = 14) according to the results of presurgical evaluations. Patients were included in the TLE group if there was strong evidence that the mesial temporal lobe was the only ictal-onset area. The other patients were included in the neocortical/multifocal group. There were no significant differences in demographic characteristics between the two groups. All patients in the TLE group became seizure-free after ATL, but only four patients became seizure-free, and additional two patients showed improvement after various surgical procedures in the neocortical/multifocal group (p = 0.002). Conclusion: Surgical intervention may be helpful in patients with delayed epilepsy in hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome, especially if the mesial temporal lobe appears to be the only epileptogenic area, regardless of the presence of additional abnormalities seen with neuroimaging. Therefore, surgical treatment should be considered for selected patients with delayed epilepsy in HHE syndrome.

Factors associated with the effectiveness of plasma exchange for the treatment of NMO-IgG-positive neuromyelitis optica spectrum disorders

To identify factors associated with plasma exchange response in neuromyelitis optica (NMO) spectrum disorders, the clinical and magnetic resonance imaging (MRI) features of 31 NMO-IgG-positive patients receiving plasma exchange for steroid-resistant exacerbations were analyzed. Functional improvement was observed in 65% of the patients. A lower baseline Expanded Disability Status Scale score was associated with favorable response (p = 0.040). Patients without cord atrophy had a higher success rate than patients with atrophy (p = 0.016). Levels of NMO-IgG did not differ between responders and non-responders before and after plasma exchange. In conclusion, a minimal pre-existing disability is the primary determinant of the effectiveness of plasma exchange.

Anti-Ri-Antibody-Associated Paraneoplastic Syndrome in a Man with Breast Cancer Showing a Reversible Pontine Lesion on MRI

Background Paraneoplastic neurological disorders associated with anti-Ri-antibodies, which are typically present with opsoclonus-myoclonus-ataxia. Most cases with anti-Ri-antibodyassociated paraneoplastic syndrome due to breast cancer occur in women - its occurrence in men is extremely rare. Case Report We present herein the case of a male patient with breast cancer who had atypical anti-Ri-antibody-associated paraneoplastic syndrome presenting as complete horizontal ophthalmoplegia, left trigeminal sensory symptoms, and truncal ataxia. Following the diagnosis of paraneoplastic syndrome, chemotherapy and immunomodulating treatment including intravenous immunoglobulin and oral prednisolone were administered. Although the patient was negative for serum anti-Ri-antibodies 14 weeks later, his symptoms persisted. Conclusions To our knowledge, this is the first case report of ophthalmoplegia without opsoclonus-myoclonus in a male anti-Ri-antibody-positive patient with breast cancer.

Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy

Precise topographic localization, predominance in males mostly of Asian origin, and existence of some familial cases suggest a genetic background for monomelic amyotrophy. To identify susceptibility genes for monomelic amyotrophy, we performed whole-exome sequencing of four unrelated patients with monomelic amyotrophy and detected a total of 45 novel nonsynonymous single-nucleotide polymorphisms as unique variants to monomelic amyotrophy compared to control exomes. Genetic association analysis showed significant association with monomelic amyotrophy in the Gly668Ser variant of the KIAA1377 gene (odds ratio=4.62, P-value=0.0040) and the Pro1794Leu variant of the C5orf42 gene (odds ratio=4.63, P-value=0.0040). Moreover, the combination of two variants increased the risk of monomelic amyotrophy (P=1.4×10(-5), OR=61.69, 95% confidence interval=9.62-394.94, in case of combination of two heterozygotes). These data suggest that KIAA1377 and C5orf42 synergistically play a role as susceptibility genes for monomelic amyotrophy.

Nigrostriatal dysfunction in patients with amyotrophic lateral sclerosis and parkinsonism

The pathomechanism of amyotrophic lateral sclerosis (ALS) with parkinsonism (ALS-P) has not been clarified. We report two patients with ALS-P who showed dysfunction of the nigrostriatal system. The first patient showed tremor dominant, asymmetric parkinsonism which was more severe on the right side, while the second patient exhibited predominant freezing of gait. Both patients showed reduced uptake of [¹⁸F] N-(3-fluoropropyl)-2ß-carbon ethoxy-3ß-(4-iodophenyl) nortropane (¹⁸F-FP-CIT) in the posterior parts of bilateral putamina on positron emission tomography (PET). Based on our PET findings, we suggest that presynaptic nigrostriatal dysfunction may be involved in the pathomechanism of parkinsonism combined with ALS.

Small fiber function in drug naïve patients with idiopathic restless legs syndrome

To assess whether idiopathic restless legs syndrome (RLS) is associated with small fiber abnormalities, we evaluated somatic and autonomic small fiber function in 56 patients with idiopathic RLS and 36 age-matched and sex-matched healthy controls using quantitative sensory testing and quantitative sudomotor axon reflex tests. The warm detection thresholds (WDT) of the hands (p=0.017) and feet (p=0.008) were higher in patients with RLS than in controls. Cooling detection thresholds (CDT) were higher in the feet of patients with RLS than controls (p<0.001), but CDT in the hands did not differ between groups (p=0.161). There were no significant between-group differences in total sweat volume and sweat production in the forearms, proximal legs, distal legs, and feet (p>0.1 each). These findings suggest that abnormal sensory perception in patients with idiopathic RLS may result from impairment of central somatosensory processing rather than small fiber neuropathy.

A Patient with Coexisting Myasthenia Gravis and Lambert-Eaton Myasthenic Syndrome

Background The coexistence of myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS) is very rare and remains controversial. Case Report A 48-year-old woman initially presented with noticeable right ptosis and intermittent diplopia. She then developed fluctuating proximal limb weakness and difficulty in swallowing. The serum titer of anti-acetylcholine-receptor antibody was elevated and the edrophonium (Tensilon) test was positive. However, repetitive nerve stimulation revealed abnormalities typical of LEMS. The patient exhibited a good response to treatment with anticholinesterase inhibitors and steroids, and long-term evaluation disclosed that she presented with the clinical, electrophysiological, and immunological characteristics of both diseases. Conclusions The reported clinical and electrophysiological features suggest that this patient was a very rare case of combined MG and LEMS.

Concomitant origin of the anterior or posterior spinal artery with the feeder of a spinal dural arteriovenous fistula (SDAVF)

Background/objective The concomitant origin of the anterior spinal artery (ASA) or the posterior spinal artery (PSA) from the feeder of a spinal dural arteriovenous fistula (SDAVF) is rare and the exact incidence is not known. We present our experience with the management of SDAVFs in such cases. Methods In 63 patients with SDAVF between 1993 and 2015, the feeder origin of the SDAVF was evaluated to determine whether it was concomitant with the origin of the ASA or PSA. Embolization was attempted when the patient did not want open surgery and an endovascular approach was regarded as safe and possible. The outcome of the procedure was evaluated as complete, partial, or no obliteration. The clinical outcome was evaluated by Aminoff–Logue (ALS) gait and micturition scale scores. Results Nine patients (14%) had a concomitant origin of the ASA or PSA with the feeder. There were two cervical, five thoracic, and two lumbar level SDAVFs. A concomitant origin of the feeder was identified with the ASA (n=7) and PSA (n=2). Embolization was performed in four patients and open surgery was performed in five. Embolization resulted in complete obliteration in three patients and partial obliteration in one. Using the ALS gait and micturition scale, the final outcome improved in six while three cases remained in an unchanged condition over 2–148 months. Conclusions The concomitant origin of the ASA or PSA with the feeder occurs occasionally. Complete obliteration of the fistula can be achieved either by embolization or open surgery. Embolization can be carefully performed in selected patients who are in a poor condition and do not want to undergo open surgery.

Fulminant guillain-barre syndrome mimicking cerebral death following acute viral hepatitis a.

A 32-year-old man was transferred to an intensive care unit due to respiratory difficulties with a 4-day history of progressive areflexic quadriparesis following acute hepatitis A. A nerve-conduction study revealed inexcitability of most nerves. The cerebrospinal fluid showed albuminocytologic dissociation, suggesting Guillain-Barré syndrome (GBS). The patient appeared brain dead on day 4, showing absent brainstem reflexes, respiratory failure, and fully dilated and fixed pupils. This case is an example of how GBS can evolve and simulate a brain-dead state from fulminant deafferentation following acute hepatitis A.