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PO5.58 Two Sibs with Giant Axonal Neuropathy
S60 PO5.55 e Syndrome Facial Diplegia as a Sole Manifestation of Guillain Barr´ Jong Kuk Kim1 *, Jong Seok Bae2 , Sun Young Oh3 , Eun Hee Sohn4 , Yoon-Ho Hong5 1 Dept. of Neurology, Kosin University College of Medicine, Korea, 2 Dept. of Neurology, Inje University College of Medicine, Korea, 3 Dept. of Neurology, Chonbuk National University College of Medicine, Korea, 4 Dept. of Neurology, Chungnam National University College of Medicine, Korea, 5 Dept. of Neurology, Seoul National University Boramae Hospital, Korea E-mail address: [email protected] Background: Bilateral facial nerve palsy is a rare but the representative symptom of various kinds of diseases. These include multiple sclerosis, sarcoidosis, infection, vasculitis, leukemia and Bell’s palsy. Some of the e syndrome (GBS) patients can be a sole manifestation of Guillain Barr´ without obvious limb weakness. We report eight patients presented with bilateral facial palsy as a variant of GBS. Methods: We collected the patients manifested with bilateral facial nerve palsy without limb motor weakness from the five university hospitals in Korea. The clinical, immunological and electrophysiological data of the patients were investigated. Results: Mean age at onset of eight patients was 34.1 (9 to 60). Man was five and three persons were women. Six had history of preceding infection and five of them were upper respiratory infection such as pharyngitis (83.3%). Seven patients had subjective sensory symptoms such as tingling sensation on hands (87.5%) but none of them complained of motor weakness of limb. Neurological examinations showed bilateral facial palsy of peripheral type without any other cranial abnormality. Significant limb motor weakness or sensory abnormalities were not detected in all patients. Mean cerebrospinal fluid protein was elevated to 68.9 mg/dL but no cell was detected in all patients. Anti-ganglioside antibodies to GM1, GM2, GD1a, GD1b, GD3, GT1a, GT1b or GQ1b were negative in all patients but, two patients had anti-Mycoplasma antibody. 71.4 percent of patients (5 from studied 7) showed sensorimotor abnormalities of distal limbs in nerve conduction studies (NCS). Conclusions: GBS can be presented with isolated facial diplegia. It is supported by the several evidences. Those include preceding infections, albuminocytologic dissociation and abnormal NCS findings of limbs. PO5.56 e Syndrome Presenting as Multiple Cranial Neuropathies Guillain Barr´ Ju Young Oh *, Ae Young Lee, Jae Moon Kim, Eun Hee Sohn Dept. of Neurology, Chungnam University Hospital, Korea E-mail address: [email protected] Background: The causes of multiple cranial neuropathies are variable like infection, inflammation or neoplastic lesion. In spite of careful clinical investigation, many cases remain of unknown etiology. It is also considered to be an atypical variant, topographically circumscribed, of e syndrome (GBS). the Guillain Barr´ Case report: A 18-year-old man developed progressive multiple cranial neuropathy just after upper respiratory tract infection. At the first day, he felt diplopia, and the next day, he couldn’t vocalize properly and complained dysphagia. Complete internal and external ophthalmoplegia with bilateral ptosis, decreased bulbar reflex, and decreased deep tendon reflexes on the knee and ankle were observed at nadir. There were no weakness on the limb and the respiratory muscle. CSF study, neurophysiological studies and brain MRI showed no abnormality. We found significantly elevated anti-GQ1b antibody in the serum during the acute phase. He was treated with intravenous immunoglobulin, and completely improved 3 months later. Conclusions: Decreased tendon reflexes and elevated anti-GQ1b antibody titer make it possible to diagnose a topographical variant of GBS. The clinician must keep in mind the possibility of atypical variant of GBS in the patient with multiple cranial neuropathies.
Posters: PO5. Peripheral Neuropathy PO5.57 Quantitative Analysis of Somatic and Autonomic Small Fibers in Diabetic Neuropathy Eun Hee Sohn1 *, Kyu Sang Song2 , Ae Young Lee1 , Jae Moon Kim1 1 Dept. of Neurology, Chungnam University College of Medicine, Korea, 2 Dept. of Neuropathology, Chungnam University College of Medicine, Korea E-mail address: [email protected] Background: Sensory neuropathy is a prominent component of diabetic neuropathy, and there is some agreement in involvement of somatic and autonomic fibers at the same time in diabetic neuropathy. However studies comparing somatic and autonomic fibers on the same sites have not been done. The aim of this study is to find relationship between somatic and autonomic fiber dysfunction in diabetic neuropathy. Methods: Type 2 diabetic patients with putative neuropathy based on clinical symptoms or signs were included prospectively. All patients were given clinical neurological examinations and were got NCS for the detecting large fiber neuropathy. Quantification of intraepidermal nerve fiber (IENF) density and quantitative sudomotor axon reflex test (QSART) were done on the same sites to detect somatic and sudomotor C-fiber impairment respectively. Heart rate variability according to deep breathing (DB ratio), Valsalva ratio were done to detect cardiovagal dysfunction. The results of the tests were compared between the patients with normal nerve conduction (small fiber neuropathy group, SFN) and abnormal nerve conduction (mixed fiber neuropathy group, MFN). Results: The frequency of abnormality of QSART and IENF density was high comparing with that of cardiovagal function even in SFN. There was no difference in the results of QSART and IENF density between SFN and MFN. Cardiovagal dysfunction, especially DB ratio, was correlated with NCS abnormality. There was no correlation between QSART and IENF density. Conclusions: Analysis of QSART and IENF density is useful method to detect small fiber dysfunction in diabetic neuropathy, especially early stage. These two tests may be complementary each other to detect small fiber dysfunction in diabetic neuropathy. PO5.58 Two Sibs with Giant Axonal Neuropathy Neeraj Jain1 *, Nirav Sanghani2 , Arun Shah2 1 Dept. of Neurology, KEM Hospital and Seth G.S. Medical College, India, 2 Dept. of Neurology, BYLNair Ch. Hospital and T.N. Medical College, India E-mail address: [email protected] Background: Giant axonal neuropathy (GAN) is a rare genetic disease of childhood involving central and peripheral nervous system. The disease is caused by GAN gene mutations on chromosomes 16q24.1. Axonal loss with several giant axons filled with neurofilaments is the histopathological hallmark in GAN. Neuroimaging studies reveal diffused hyperintensities in cerebral and cerebellar white matter. We for the first time, present two siblings with proven GAN from India where this is very rare. Case report: A 16 year old girl and her 14 year old brother, born of a third degree consanguineous marriage, presented with delayed motor milestones, progressive kyphoscoliosis and progressive weakness with wasting of both lower extremities since 3 years of age. By the age of 7, the upper extremities were involved and by the age of 10 they were bed bound. Clinical examination revealed kyphoscoliosis, curly hair, dry skin and hammer toes. Both had bilateral eye closure weakness, bilateral gazeevoked and downbeat nystagmus. There was distal weakness and wasting and impairment of all modalities of sensations in glove and stoke distribution with generalized arreflexia. Detailed higher function testing did not reveal any impairment and IQ was normal. Electrophysiological studies revealed generalized sensorimotor axonal polyneuropathy and brain MRI showed atrophy of bilateral cerebral hemispheres, cerebellum and brain stem. There were confluent white matter changes in cerebral hemispheres. The light and EM findings were consistent with diagnosis of GAN. Conclusions: The consanguineous family with two affected siblings and healthy parents complies with autosomal-recessive inheritance in GAN. In the majority of reported GAN cases, CNS involvement is described early in the course of the disease, but these patients did not present with significant CNS involvement, though brain MRI detected subclinical CNS involvement. Genetic analysis is underway from a center in France. Early delineation of this disease is important, because of possible prenatal diagnosis.
Posters: PO5. Peripheral Neuropathy PO5.57 Quantitative Analysis of Somatic and Autonomic Small Fibers in Diabetic Neuropathy Eun Hee Sohn1 *, Kyu Sang Song2 , Ae Young Lee1 , Jae Moon Kim1 1 Dept. of Neurology, Chungnam University College of Medicine, Korea, 2 Dept. of Neuropathology, Chungnam University College of Medicine, Korea E-mail address: [email protected] Background: Sensory neuropathy is a prominent component of diabetic neuropathy, and there is some agreement in involvement of somatic and autonomic fibers at the same time in diabetic neuropathy. However studies comparing somatic and autonomic fibers on the same sites have not been done. The aim of this study is to find relationship between somatic and autonomic fiber dysfunction in diabetic neuropathy. Methods: Type 2 diabetic patients with putative neuropathy based on clinical symptoms or signs were included prospectively. All patients were given clinical neurological examinations and were got NCS for the detecting large fiber neuropathy. Quantification of intraepidermal nerve fiber (IENF) density and quantitative sudomotor axon reflex test (QSART) were done on the same sites to detect somatic and sudomotor C-fiber impairment respectively. Heart rate variability according to deep breathing (DB ratio), Valsalva ratio were done to detect cardiovagal dysfunction. The results of the tests were compared between the patients with normal nerve conduction (small fiber neuropathy group, SFN) and abnormal nerve conduction (mixed fiber neuropathy group, MFN). Results: The frequency of abnormality of QSART and IENF density was high comparing with that of cardiovagal function even in SFN. There was no difference in the results of QSART and IENF density between SFN and MFN. Cardiovagal dysfunction, especially DB ratio, was correlated with NCS abnormality. There was no correlation between QSART and IENF density. Conclusions: Analysis of QSART and IENF density is useful method to detect small fiber dysfunction in diabetic neuropathy, especially early stage. These two tests may be complementary each other to detect small fiber dysfunction in diabetic neuropathy. PO5.58 Two Sibs with Giant Axonal Neuropathy Neeraj Jain1 *, Nirav Sanghani2 , Arun Shah2 1 Dept. of Neurology, KEM Hospital and Seth G.S. Medical College, India, 2 Dept. of Neurology, BYLNair Ch. Hospital and T.N. Medical College, India E-mail address: [email protected] Background: Giant axonal neuropathy (GAN) is a rare genetic disease of childhood involving central and peripheral nervous system. The disease is caused by GAN gene mutations on chromosomes 16q24.1. Axonal loss with several giant axons filled with neurofilaments is the histopathological hallmark in GAN. Neuroimaging studies reveal diffused hyperintensities in cerebral and cerebellar white matter. We for the first time, present two siblings with proven GAN from India where this is very rare. Case report: A 16 year old girl and her 14 year old brother, born of a third degree consanguineous marriage, presented with delayed motor milestones, progressive kyphoscoliosis and progressive weakness with wasting of both lower extremities since 3 years of age. By the age of 7, the upper extremities were involved and by the age of 10 they were bed bound. Clinical examination revealed kyphoscoliosis, curly hair, dry skin and hammer toes. Both had bilateral eye closure weakness, bilateral gazeevoked and downbeat nystagmus. There was distal weakness and wasting and impairment of all modalities of sensations in glove and stoke distribution with generalized arreflexia. Detailed higher function testing did not reveal any impairment and IQ was normal. Electrophysiological studies revealed generalized sensorimotor axonal polyneuropathy and brain MRI showed atrophy of bilateral cerebral hemispheres, cerebellum and brain stem. There were confluent white matter changes in cerebral hemispheres. The light and EM findings were consistent with diagnosis of GAN. Conclusions: The consanguineous family with two affected siblings and healthy parents complies with autosomal-recessive inheritance in GAN. In the majority of reported GAN cases, CNS involvement is described early in the course of the disease, but these patients did not present with significant CNS involvement, though brain MRI detected subclinical CNS involvement. Genetic analysis is underway from a center in France. Early delineation of this disease is important, because of possible prenatal diagnosis.