- Email: [email protected]
OP72 – 2501: Atypical Guillain-Barré (GBS) syndrome variants – Spectrum or developing continuum of the same disease
EUROPEAN JOURNAL O F PAEDIATRIC NEUROLOGY
multiple sclerosis (MS). We have studied the effectiveness and long-time results of this method in pediatric patients. Methods: 10 patients were included into the study: 8 females, 2 males. Median age was 16.7±1.7. Median MS duration prior to Auto-HSCT was 15.5±4.1. Age of MS onset: 4–14 years of age (12.3±1.7). Initial median score on the Expanded Disability Status Scale (EDSS) was 6.16±0.2. All patients had severe refractory MS treated with corticosteroids, interferons, plasmapheresis and mitoxantron with negative results. All patients had inflammation signs. Procedures included: stem cells mobilization with Cyclophosphomide, conditioning with Cyclophosphomide 200 mg/kg and ATGAM 160 mg/kg. Median follow-up was 21.1±0.9 (4–60 months). Results: All patients demonstrated positive results with EDSS improvement: from 2.5±0.21 in the first 60 days to 0.2±0.02 after 60 days. Maximal individual EDSS improvement was 5.5. EDSS at 2 patients improved to 1. Five patients had severe refractory secondary-progressive MS with the long duration of ineffective treatment. These patients showed the minor improvement and required the additional immunomodulation after Auto-HSCT. 2 patients relapsed (on clinical and MRI data). No severe complications were registered. Conclusion: Auto-HSCT is an effective approach to autoimmune inflammation reduction and treatment of severe refractory pediatric MS. In-time Auto-HSCT can significantly minimize the disability level and improve the outcome of MS. Most patients remained in remission during the long period.
OP72 - 2501 Atypical Guillain-Barré (GBS) syndrome variants – Spectrum or developing continuum of the same disease ´ I. Lehman, B. Bunoza, P. Gran, D. Rašic, ´ T.N. Romic, ´ N. Barišic, ´ Department of Paediatrics, University of Zagreb Medical G. Tešovic. School, Zagreb, Croatia 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.
19s (2015) S1 – S152
S23
Free paper session 8: Fetal Neurology OP73 - 2320 Autopsy findings in fetuses with agenesis of the corpus callosum diagnosed in utero T. Lerman-Sagie, D. Shapira, L. Ben-Sira, G. Malinger, D. Lev, D. Kidron. Fetal Neurology Clinic and Pediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel Objective: To describe the callosal defects and additional autopsy findings in a series of fetuses whose pregnancies were terminated. To assess the frequency of syndromic compared to isolated callosal defects. To evaluate the difference between fetuses with different types of callosal defects: complete, partial, hypoplasia and mixed. To examine the added value of fetal autopsy in cases of A-CC. Methods: Among 1,290 fetal autopsies which were carried out at Meir Medical Center between 1997 and 2013, there were 50 cases with a callosal defect. Based on the callosal defect, the cases were divided into 4 groups: complete agenesis, partial agenesis, hypoplasia and mixed (partial agenesis and hypoplasia). Specific diagnoses were made based on additional autopsy findings, including abnormalities in the brain and internal organs, as well as external dysmorphic features. Results: Among the 50 cases, 68% were syndromic, 10% isolated, 8% encephaloclastic and 14% undetermined. Abnormalities of the cerebral hemispheres as well as of internal organs were more common in cases of hypoplastic and mixed callosal defects, compared to complete and partial. The groups did not differ in gender, external dysmorphism and abnormalities in the cerebellum and brain stem. Conclusion: Autopsy, through its detailed careful evaluation of external and internal gross histological features can suggest specific diagnoses and elucidate the pathomechanism of agenesis of the corpus callosum, that are currently impossible by other modalities. The autopsy findings enable more accurate genetic evaluations and counseling.
OP74 - 2880 Biometry of the corpus callosum assessed by 3D ultrasound in very low birth weight infants and its correlation to neurodevelopmental outcome K. Klebermass-Schrehof, S. Moerth, R. Fuiko, S. Brandstetter, A. Berger, N. Haiden. Department of Pediatrics, Division of Neonatology, Pediatric Intenisve Care and Neuropediatrics, Medical University of Vienna, Vienna, Austria Objective: One of the most common brain abnormalities in preterm infants is thinning of the corpus calloisum (CC). Such injury may be partly explained by the vulnerability of the developing CC to hypoxic-ischemic damage and hemorrhage due to intrinsic vulnerability of immature oligodendrocytes. The CC is among the last structures to be completed during postnatal maturation. Several studies have shown a relation between the size of CC and motor outcome in preterm infants. Three-dimensional ultrasound (3D-US) offers new perspectives in cerebral imaging. Methods: 43 preterm infants with a gestational age < 32 weeks (wks) were included in this prospective study. With transfontanellar 3D-US measurements were done at 9 different time points (24–26 wks, 27–28 wks, 29–30 wks, 31–32 wks, 33–34 wks, 35–36 wks, 37–43 wks, 44–50 wks, 51–55 wks). Size of rostrum, corpus, splenium and length, circumference and surface area of the CC was assessed. Neurodevelopmental outcome at the age of 5 years was analyzed by Kaufmann’s Assessment Battery for Children (K-ABC) and Beery-Buktenica Developmental Test of Visual-Motor Integration (VMI). Results: By 3D US reference values for size, length, circumference and surface area of the CC at all different timepoints could be established. The data examined
multiple sclerosis (MS). We have studied the effectiveness and long-time results of this method in pediatric patients. Methods: 10 patients were included into the study: 8 females, 2 males. Median age was 16.7±1.7. Median MS duration prior to Auto-HSCT was 15.5±4.1. Age of MS onset: 4–14 years of age (12.3±1.7). Initial median score on the Expanded Disability Status Scale (EDSS) was 6.16±0.2. All patients had severe refractory MS treated with corticosteroids, interferons, plasmapheresis and mitoxantron with negative results. All patients had inflammation signs. Procedures included: stem cells mobilization with Cyclophosphomide, conditioning with Cyclophosphomide 200 mg/kg and ATGAM 160 mg/kg. Median follow-up was 21.1±0.9 (4–60 months). Results: All patients demonstrated positive results with EDSS improvement: from 2.5±0.21 in the first 60 days to 0.2±0.02 after 60 days. Maximal individual EDSS improvement was 5.5. EDSS at 2 patients improved to 1. Five patients had severe refractory secondary-progressive MS with the long duration of ineffective treatment. These patients showed the minor improvement and required the additional immunomodulation after Auto-HSCT. 2 patients relapsed (on clinical and MRI data). No severe complications were registered. Conclusion: Auto-HSCT is an effective approach to autoimmune inflammation reduction and treatment of severe refractory pediatric MS. In-time Auto-HSCT can significantly minimize the disability level and improve the outcome of MS. Most patients remained in remission during the long period.
OP72 - 2501 Atypical Guillain-Barré (GBS) syndrome variants – Spectrum or developing continuum of the same disease ´ I. Lehman, B. Bunoza, P. Gran, D. Rašic, ´ T.N. Romic, ´ N. Barišic, ´ Department of Paediatrics, University of Zagreb Medical G. Tešovic. School, Zagreb, Croatia 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.
19s (2015) S1 – S152
S23
Free paper session 8: Fetal Neurology OP73 - 2320 Autopsy findings in fetuses with agenesis of the corpus callosum diagnosed in utero T. Lerman-Sagie, D. Shapira, L. Ben-Sira, G. Malinger, D. Lev, D. Kidron. Fetal Neurology Clinic and Pediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel Objective: To describe the callosal defects and additional autopsy findings in a series of fetuses whose pregnancies were terminated. To assess the frequency of syndromic compared to isolated callosal defects. To evaluate the difference between fetuses with different types of callosal defects: complete, partial, hypoplasia and mixed. To examine the added value of fetal autopsy in cases of A-CC. Methods: Among 1,290 fetal autopsies which were carried out at Meir Medical Center between 1997 and 2013, there were 50 cases with a callosal defect. Based on the callosal defect, the cases were divided into 4 groups: complete agenesis, partial agenesis, hypoplasia and mixed (partial agenesis and hypoplasia). Specific diagnoses were made based on additional autopsy findings, including abnormalities in the brain and internal organs, as well as external dysmorphic features. Results: Among the 50 cases, 68% were syndromic, 10% isolated, 8% encephaloclastic and 14% undetermined. Abnormalities of the cerebral hemispheres as well as of internal organs were more common in cases of hypoplastic and mixed callosal defects, compared to complete and partial. The groups did not differ in gender, external dysmorphism and abnormalities in the cerebellum and brain stem. Conclusion: Autopsy, through its detailed careful evaluation of external and internal gross histological features can suggest specific diagnoses and elucidate the pathomechanism of agenesis of the corpus callosum, that are currently impossible by other modalities. The autopsy findings enable more accurate genetic evaluations and counseling.
OP74 - 2880 Biometry of the corpus callosum assessed by 3D ultrasound in very low birth weight infants and its correlation to neurodevelopmental outcome K. Klebermass-Schrehof, S. Moerth, R. Fuiko, S. Brandstetter, A. Berger, N. Haiden. Department of Pediatrics, Division of Neonatology, Pediatric Intenisve Care and Neuropediatrics, Medical University of Vienna, Vienna, Austria Objective: One of the most common brain abnormalities in preterm infants is thinning of the corpus calloisum (CC). Such injury may be partly explained by the vulnerability of the developing CC to hypoxic-ischemic damage and hemorrhage due to intrinsic vulnerability of immature oligodendrocytes. The CC is among the last structures to be completed during postnatal maturation. Several studies have shown a relation between the size of CC and motor outcome in preterm infants. Three-dimensional ultrasound (3D-US) offers new perspectives in cerebral imaging. Methods: 43 preterm infants with a gestational age < 32 weeks (wks) were included in this prospective study. With transfontanellar 3D-US measurements were done at 9 different time points (24–26 wks, 27–28 wks, 29–30 wks, 31–32 wks, 33–34 wks, 35–36 wks, 37–43 wks, 44–50 wks, 51–55 wks). Size of rostrum, corpus, splenium and length, circumference and surface area of the CC was assessed. Neurodevelopmental outcome at the age of 5 years was analyzed by Kaufmann’s Assessment Battery for Children (K-ABC) and Beery-Buktenica Developmental Test of Visual-Motor Integration (VMI). Results: By 3D US reference values for size, length, circumference and surface area of the CC at all different timepoints could be established. The data examined