Ivan Lehman

OP72 – 2501: Atypical Guillain-Barré (GBS) syndrome variants – Spectrum or developing continuum of the same disease

Objective To present very heterogeneous and complex clinical features of atypical GBS variants and overlaps between different GBS types and subtypes. Methods Clinical exam, cerebrospinal fluid (CSF) exam, ganglioside antibodies, EMG, brain and spinal MRI. Results We report 5 children at the age 13 months to 15 years with atypical presentation of GBS and GBS variants, out of 33 patients with typical GBS, treated at Department of Paediatrics in the period from 2005 to 2014. Clinical features included: bifacial and severe pharyngocervicobrachial weakness of descending type, lesion of n. VI with paresthesias of lower extremities, acute ptosis and mydriasis and incomplete Miller Fisher syndrome, bilateral dominant cervicobrachial weakness, and mild asymmetric paraparetic GBS with priapism. First cerebrospinal fluid analysis revealed normal protein content in 3/5, while increased (range 0.39–0.42 g/L) during follow up in second week of disease in 2/5. MRI of the brain and spinal cord was normal in all patients except enhancement of the cervical nerve roots in patient with pharyngocervicobrachial subtype. EMG performed in first 2 weeks showed prolonged distal latency and proximal conduction block in 3/5, inelicitable nerves and axonal loss on upper extremities in a patient with pharyngocervicobrachial subtype, absent F-waves and neural potentials in 4/5 patients. Mild decreasing (38–41 m/s) of motor conduction velocity was present in 2/5 in distal nerve segments. Ganglioside antibodies were positive in 3/5 patients. The clinical course was more severe and prolonged in a patient with descending type of pharyngocervicobrachial GBS subtype. Conclusion Spectrum of GBS presents with very variable clinical manifestations requiring reconsideration of existing diagnostic criteria for GBS in paediatric population. Appropriate diagnosis based on criteria and diagnostic guidelines are important for rational and early immunotherapy in patients with atypical GBS variants.

PP15.13 – 2509: European network about inherited neurometabolic diseases

Objective Inherited Neurometabolic Diseases (InNerMeD) is the first European Network on inherited neurometabolic diseases (iNMDs) with the aim to create a multimedial network of information targeted on iNMDs based on the collection and exchange of validated information among scientific communities, health professionals, patients, patient associations and relevant stakeholders. Methods Coordinator is Brains for Brain Foundation (Italy), and partners are Gianni Benzi, Pharmacological Reserach Foundation (Italy), Region Hovedstaden, Department of Clinical Genetics (Denmark), University of Zagreb, School of Medicine, (Croatia), Hospital Sant Joan de Deu (Spain) including collaborating partners. Since iNMDs represent an important group of rare diseases, the network will increase the knowledge on iNMDs, speed up the timely and precise identification of patients, who may benefit of the available both experimental and marketed treatments and also favour biomedical research. Results The objectives are: a) to create a critical mass of multispecialist knowledge to be disseminated and increase awareness on iNMDs to anticipate diagnosis and supply an adequate therapy; b) to straighten research capacities; c) to provide practical support for sharing experiences at global levels; d) to disseminate knowledge on clinical and experimental approaches for diagnosis and treatment. It is expected that the network will provide: a) a critical mass of competences instead of disperse expertise; b) validated customized information about iNMDs; c) stimulation of innovative research projects; d) identification of group of patients to be included into biomedical and clinical trials; e) translation of scientific breakthroughts into clinical practise; f) generation of social benefit for establishing a standard of care for patients suffers from iNMDs across Europe. Conclusion Information Network is funded by the Executive Agency for Health and Consumers under the Second Health Programme of the European Commission (Grant Agreement no. 201212121). For further information visit: http://www.innermed.eu/index.php/cms/en/home . For join us complete the questionnaire: http://survey.innermed.eu/index.php/survey/index/sid/161692/newtest/Y/

P22 – 2502: The importance of EEG in diagnosis and treatment of acquired and genetic encephalopathies

Objective Encephalopathies present according to definition with decrease or change of the levels of consciousness in duration longer than 24 hours, behavioral changes and at least one of the following symptoms: neuropsychiatric deficits, seizures, movement disorders and/or cognitive dysfunction. The EEG may help to confirm an encephalopathy by demonstrating diffuse background slowing, lack of expected complexity, poor reactivity, pronounced discontinuity and/or specific patterns. Aim is to present examples of different age dependent EEG types and patterns both interictal and ictal, in awake state and sleep in different acquired: autoimmune and inflammatory, hypoxic, and metabolic both in acute and chronic phase and epileptic (progressive and non-progressive) encephalopathies with emphasis on nonconvulsive status epilepticus of different causes. Methods Clinical exam, MR brain, metabolic and molecular genetics evaluation, EEG ictal and interictal, EEG reactivity testing. Results Different ictal and interictal EEG patterns in 8 patients at the 1–13 years will be presented: epileptic/genetic encephalopathies caused by SCN8A, STXBP1 and GABABR and siblings with SLC13A5 genes mutations and Northern type of neuronal ceroid lipofuscinosis (CLN8), a patient with NMDAR autoimmune encephalopathy and 2 patients with nonconvulsive status epilepticus associated with severe hypoxic-ischemic encephalopathy. Conclusion EEG is sensitive but not absolutely specific for diagnosis of encephalopathies of different origin. Different EEG interictal patterns are seen in a wide variety of conditions enabling localization of the pathologic involvement of either gray or subcortical white matter. Diagnosis of etiology of encephalopathies requires additional complex procedures. EEG is still valuable for grading of severity, treatment response and prognosis in encephalopathies.

NMP010 Chronic demyelinating polyneuropathy in children

Childhood chronic inflammatory demyelinating polyneuropathy (CIDP) is characterized with large clinical, physiological, and immunological variability. Progressive course is rare in children. Long-term follow up of 4 children with early onset CIDP is presented. A two years old boy manifested progressive weakness and areflexia associated with CNS involvement developed after viral infection (patient 1), with relapses during intercurrent infections and development of severe axonal damage on EMG. Three-year-old boy (patient2) manifested initially progressive muscle weakness during 6 months with spontaneous regression, followed by 2 severe relapses at the age of 5 and 6 years. Decreased ASA activity was present in the patient 1 (17.6), and his family members (24.1−40nmol/mg/h). Arterial hypertension up to 20/12kPa was present in two patients in initial phase associated with muscle stiffness, occasional meningism, and left ventricular (LV) hypertrophy in one of them (patient 4). Subsequently, they both developed 2 mild relapses, at the age of 3.5−6 years. Clinical outcome was excellent in 2 cases and good in 2 cases although clinical course, therapy response and electrophysiological outcome was quite different in the only patient with low arylsulphatase A activity. Demyelination might develop in central and peripheral nervous system associated with arterial hypertension or inflammatory myopathy in patients with progressive course of CIDP.