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A new cobblestone malformation complex disorder: Walker-Warburg syndrome associated with tectocerebellar dysraphia due to homozygous DAG1 mutations
e u r o p e a n j o u r n a l o f p a e d i a t r i c n e u r o l o g y 2 1 ( 2 0 1 7 ) e 8 3 ee 8 5
Official Journal of the European Paediatric Neurology Society
Abstracts of EPNS 2017 e 12th European Paediatric Neurology Society Congress, 20e24 June 2017, Lyon, France ORAL COMMUNICATIONS Thursday, June 22 Parallel Sessions 10:30 e 12:15 FOETAL AND NEONATAL NEUROLOGY 2 PS 7: Invited Lecture Neuroimaging findings as an outcome predictor Linda de Vries. Belgium
http://dx.doi.org/10.1016/j.ejpn.2017.04.856 OC51 A new cobblestone malformation complex disorder: WalkerWarburg syndrome associated with tectocerebellar dysraphia due to homozygous DAG1 mutations Tally Lerman-Sagie, Zvi Leibovitz. Fetal Neurology Clinic, Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel Objective: To describe a new phenotype of cobblestone malformation complex caused by homozygous frameshift DAG1 mutations leading to a complete absence of both a- and b-dystroglycan. Methods: We analyzed prenatal and postnatal imaging data of six patients from a consanguineous Israeli-Arab kindred diagnosed with Walker-Warburg syndrome (WWS) harboring this mutation. Results: The imaging studies demonstrated: cobblestone cortex, hydrocephalus, z-shaped brainstem, and in addition occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia). The studies also demonstrated periventricular hemorrhages and brain calcifications. Conclusions: DAG1 mutations cause a novel cobblestone malformation complex disorder: WWS associated with tectocerebellar dysraphia.
http://dx.doi.org/10.1016/j.ejpn.2017.04.857
OC52 The effect of fetally open, fetoscopic and postnatal meningomyelocele closure on neuromuscular outcome in spina bifida aperta e Preliminary data R.J. Verbeek, A. Pastuszka, T. Koszutski, J.H. van der Hoeven, E.W. Hoving, D.A. Sival. Department of (Pediatric) Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands Objective: In spina bifida aperta (SBA), fetal myelomeningocele (MMC) closure can reduce shunt dependency and preserve segmental motor function caudal to the MMC (induced by the second hit of damage). Fetal MMC closure is performed by open and fetoscopic techniques, but comparative research data addressing neuromuscular outcomes are still incomplete. Muscle ultrasound can non-invasively quantify muscle damage by the MMC [by intraindividual muscle ultrasound density comparison caudal- versus cranial- to the MMC (dMUD)]. We aimed to compare neuromuscular outcome parameters after: 1. fetally open, 2. fetoscopic and 3. postnatal MMC closure. Methods: We investigated 10 age- and lesion matched pairs, consisting of: I. 4 matched- pairs of fetally open versus neonatally operated children [Katowice, Poland; aged 4e11 (median 6) years; median MMC L4-L5 (range L4-S1)] and, II. 6 matched-pairs of fetoscopic versus neonatally operated children [Bonn, Germany and Groningen, the Netherlands, resp.; aged 0e5 (median 1) years; median (and range) MMC L4eL5]. We calculated dMUD as: [MUDcaudal-to- MMC (calf)] minus [MUDcranial-to-MMC (biceps/quadriceps)]. Results: Both fetally open and fetoscopic techniques tended to reveal more preserved neuromuscular function compared to postnatally operated children: I. fetally open operated children: median difference: +0.75 myotome and +0.25 dermatome (ranges 1 to 2 and 2 to 3); motor and sensory function resp.; dMUD: 13 (3e70) vs 20 (12e27); fetally versus neonatally operated children, resp. II. fetoscopically operated children: median difference: +1.75 myotomes and +1.25 dermatomes (ranges 0.5 to 4 and 1.5 to 4); motor and sensory function resp.; dMUD: 11 ( 9e68) vs 29 (7e38); fetally versus neonatally operated children, resp. Conclusion: In SBA children with lumbosacral MMCs, preliminary data reflect a neuro- protective effect by both open fetal and fetoscopic MMC closure. For final conclusions, we will await our findings in a larger fetally-open-operated SBA cohort, along with careful analysis of adverse events in all study groups.
http://dx.doi.org/10.1016/j.ejpn.2017.04.858
1090-3798
Official Journal of the European Paediatric Neurology Society
Abstracts of EPNS 2017 e 12th European Paediatric Neurology Society Congress, 20e24 June 2017, Lyon, France ORAL COMMUNICATIONS Thursday, June 22 Parallel Sessions 10:30 e 12:15 FOETAL AND NEONATAL NEUROLOGY 2 PS 7: Invited Lecture Neuroimaging findings as an outcome predictor Linda de Vries. Belgium
http://dx.doi.org/10.1016/j.ejpn.2017.04.856 OC51 A new cobblestone malformation complex disorder: WalkerWarburg syndrome associated with tectocerebellar dysraphia due to homozygous DAG1 mutations Tally Lerman-Sagie, Zvi Leibovitz. Fetal Neurology Clinic, Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel Objective: To describe a new phenotype of cobblestone malformation complex caused by homozygous frameshift DAG1 mutations leading to a complete absence of both a- and b-dystroglycan. Methods: We analyzed prenatal and postnatal imaging data of six patients from a consanguineous Israeli-Arab kindred diagnosed with Walker-Warburg syndrome (WWS) harboring this mutation. Results: The imaging studies demonstrated: cobblestone cortex, hydrocephalus, z-shaped brainstem, and in addition occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia). The studies also demonstrated periventricular hemorrhages and brain calcifications. Conclusions: DAG1 mutations cause a novel cobblestone malformation complex disorder: WWS associated with tectocerebellar dysraphia.
http://dx.doi.org/10.1016/j.ejpn.2017.04.857
OC52 The effect of fetally open, fetoscopic and postnatal meningomyelocele closure on neuromuscular outcome in spina bifida aperta e Preliminary data R.J. Verbeek, A. Pastuszka, T. Koszutski, J.H. van der Hoeven, E.W. Hoving, D.A. Sival. Department of (Pediatric) Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands Objective: In spina bifida aperta (SBA), fetal myelomeningocele (MMC) closure can reduce shunt dependency and preserve segmental motor function caudal to the MMC (induced by the second hit of damage). Fetal MMC closure is performed by open and fetoscopic techniques, but comparative research data addressing neuromuscular outcomes are still incomplete. Muscle ultrasound can non-invasively quantify muscle damage by the MMC [by intraindividual muscle ultrasound density comparison caudal- versus cranial- to the MMC (dMUD)]. We aimed to compare neuromuscular outcome parameters after: 1. fetally open, 2. fetoscopic and 3. postnatal MMC closure. Methods: We investigated 10 age- and lesion matched pairs, consisting of: I. 4 matched- pairs of fetally open versus neonatally operated children [Katowice, Poland; aged 4e11 (median 6) years; median MMC L4-L5 (range L4-S1)] and, II. 6 matched-pairs of fetoscopic versus neonatally operated children [Bonn, Germany and Groningen, the Netherlands, resp.; aged 0e5 (median 1) years; median (and range) MMC L4eL5]. We calculated dMUD as: [MUDcaudal-to- MMC (calf)] minus [MUDcranial-to-MMC (biceps/quadriceps)]. Results: Both fetally open and fetoscopic techniques tended to reveal more preserved neuromuscular function compared to postnatally operated children: I. fetally open operated children: median difference: +0.75 myotome and +0.25 dermatome (ranges 1 to 2 and 2 to 3); motor and sensory function resp.; dMUD: 13 (3e70) vs 20 (12e27); fetally versus neonatally operated children, resp. II. fetoscopically operated children: median difference: +1.75 myotomes and +1.25 dermatomes (ranges 0.5 to 4 and 1.5 to 4); motor and sensory function resp.; dMUD: 11 ( 9e68) vs 29 (7e38); fetally versus neonatally operated children, resp. Conclusion: In SBA children with lumbosacral MMCs, preliminary data reflect a neuro- protective effect by both open fetal and fetoscopic MMC closure. For final conclusions, we will await our findings in a larger fetally-open-operated SBA cohort, along with careful analysis of adverse events in all study groups.
http://dx.doi.org/10.1016/j.ejpn.2017.04.858
1090-3798