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P027 Congenital dominantly inherited non-progressive cerebellar hypoplasia
Posters developmental progress was normal. At 6 years of age, he presented with new onset dystonic posturing of the left arm that progressed slowly over 6 months. There was mild decreased power of shoulder extension with full range of movement of the shoulder joint but no other clinical features found. MRI scan revealed right temporal subependymal heterotopia with normal basal ganglia. Neither patient has experienced seizures to date. Conclusion: The subependymal heterotopia represent definite areas of arrested migration but are not in the areas clinically associated with dystonia. It is possible other areas of abnormal neuronal migration may be present within the basal ganglia that cannot be visualised on current imaging techniques. P026 Neurodevelopmental outcome of very low birth weight infants born in 2003 2005, Kaunas, Lithuania R. Jakuskiene1 , D. Daugeliene2 *, B. Vollmer3 . 1 Neonatology, Medical University Hospital, Kaunas, Lithuania; 2 Children‘s Clinic, Hospital of Hudiksvall, Sweden; 3 Department of Woman and Child Health, Karolinska Institutet, Stockholm, Sweden Objective: To describe health status and short term neurodevelopmental outcome at age three to five years in very low birth weight (VLBW) infants. Methods: 338 infants (birth weight 1.500 g and/ or gestational age 32 weeks) treated at the tertiary level neonatal intensive care unit at Kaunas Medical University Hospital between 1/2003 and 1/2006 were observed prospectively. Perinatal and neonatal data were collected according to the local routine protocol. Information on neurological diagnosis, developmental status, hearing function and visual function at age three to five years was extracted from medical records. In addition, health status was assessed with the Health Status Classification System for Preschool Children (HSCS-PS) completed by the parents. Children were classified into three groups: normal (no neurodevelopmental deficits), minor (gross and fine motor deficits, disorder of language development, visual impairment, attention deficit disorder, abnormal socio-emotional development) and major (cerebral palsy (CP), blindness, deafness, and/or intractable epilepsy). Results: Data were available for 169 (70.7%) of the 240 survivors. Mean age at assessment was 4.1 (SD: 0.9) years. 57.4% of children had survived without neurodevelopmental impairment. Minor impairment was diagnosed in 27.8% and major impairment in 14.8%. Cerebral palsy was present in 14 (8.3%) children and was more frequent in boys. Significant neonatal risk factors for major impairment were intraventricular haemorrhage grade III-IV, posthaemorrhagic hydrocephalus with ventriculo-peritoneal shunt, seizures, retinopathy of prematurity III-IV grade. In 9.5% of the cases, information from the HSCS-PS and information obtained from the medical records differed. Conclusion: At three to five years of age, over half of the infants had a good outcome. Parents’ assessments (HSCS-PS) of the infant’s health status corresponded well with that of medical professionals for most domains.
S29 P027 Congenital dominantly inherited non-progressive cerebellar hypoplasia G. Malinger2 *, Y. Hacohen1 , L. Ben-Sira3 , N. Prince4 , D. Lev5 , T. Lerman-Sagie6 . 1 Evelina Children’s Hospital, London, UK; 2 Department of Obstetrics and Gynecology, The Edith Wolfson Medical Center, Holon, Israel; 3 Pediatric Radiology Unit, Tel Aviv Medical Center, Sackler Faculty of Medicine, Tel Aviv, Israel; 4 Neonatal Intensive Care Unit, King’s College Hospital, London, UK; 5 Institute of Medical Genetics, The Edith Wolfson Medical Center, Holon, Israel; 6 Pediatric Neurology Unit, The Edith Wolfson Medical Center, Holon, Israel Objective: We describe the first case of dominantly inherited non-progressive cerebellar hypoplasia. Case: A 30 year old G2 P1 with mild learning difficulties and a previous daughter with normal development was referred to the fetal neurology clinic following an abnormal anomaly scan at 21 weeks which revealed a small cerebellum, with possibly fused cerebellar hemispheres. Romboencephalosynapsis was suspected. The fetal MRI at 25 weeks showed a female conceptus with a small cerebellum, an incompletely formed vermis and flattening of the pons. The findings were consistent with marked hypoplasia of the cerebellar hemisphere and vermis. The mother had global developmental delay as a child. She did not walk until 3.5 years of age her speech was delayed and she was in a special educational school. In clinic she was mildly ataxic and could not tandem walk nor stand on one foot. Mild horizontal nystagmus, abnormal pursuit and an intention tremor were noted. The rest of the neurological examination was normal. Maternal MRI demonstrated extreme hypoplasia/aplasia of the cerebellar hemispheres, elevated and fanned out vermis, flattening of the pons and a thin tectum. Since the mother is coping well with her disability she decided to continue the pregnancy. Conclusion: Non-progressive cerebellar ataxia (NPCA) encompasses a heterogenous group of conditions whose aetiology is poorly understood. X-linked and autosomal recessive forms of cerebellar hypoplasia have previously been described. We report a mother and a fetus with dominantly inherited (autosomal or x-linked) cerebellar hypoplasia. The degree of hypoplasia seen in the fetus was less severe than the mother. It would be difficult to predict the clinical outcome for the fetus when counselling the parents but in view of the maternal clinical picture we suspect it would be mild and non-progressive. P028 Risk factors for postneonatal epilepsy in a group of children with neonatal seizures S. Danojevic1 *, A. Soltirovska Salamon2 , D. Neubauer1,2 , D. Paro-Panjan2 . 1 Medical Faculty, University of Ljubljana, Slovenia; 2 University Medical Centre Ljubljana, Department of Neonatology and Child Neurology Objective: The aim of the study was to analyse risk factors for postneonatal epilepsy in a cohort of 44 children who experienced neonatal seizures and developed epilepsy later in life. Methods: 44 children, who developed epilepsy and were admitted to our department between 1997 and 2007 because of neonatal seizures, were studied retrospectively. Family history, pre- and perinatal risk factors, laboratory and imaging studies and aetiology were analyzed, and clinical presentation of seizures, timing and the duration of seizures. The results of neonatal EEGs and CFMs, imaging and neurological examination at the neonatal discharge were evaluated. Neonatal seizure type, combination and duration of anticonvulsants and outcome were analyzed regarding the type of epileptic seizures and outcome.
S29 P027 Congenital dominantly inherited non-progressive cerebellar hypoplasia G. Malinger2 *, Y. Hacohen1 , L. Ben-Sira3 , N. Prince4 , D. Lev5 , T. Lerman-Sagie6 . 1 Evelina Children’s Hospital, London, UK; 2 Department of Obstetrics and Gynecology, The Edith Wolfson Medical Center, Holon, Israel; 3 Pediatric Radiology Unit, Tel Aviv Medical Center, Sackler Faculty of Medicine, Tel Aviv, Israel; 4 Neonatal Intensive Care Unit, King’s College Hospital, London, UK; 5 Institute of Medical Genetics, The Edith Wolfson Medical Center, Holon, Israel; 6 Pediatric Neurology Unit, The Edith Wolfson Medical Center, Holon, Israel Objective: We describe the first case of dominantly inherited non-progressive cerebellar hypoplasia. Case: A 30 year old G2 P1 with mild learning difficulties and a previous daughter with normal development was referred to the fetal neurology clinic following an abnormal anomaly scan at 21 weeks which revealed a small cerebellum, with possibly fused cerebellar hemispheres. Romboencephalosynapsis was suspected. The fetal MRI at 25 weeks showed a female conceptus with a small cerebellum, an incompletely formed vermis and flattening of the pons. The findings were consistent with marked hypoplasia of the cerebellar hemisphere and vermis. The mother had global developmental delay as a child. She did not walk until 3.5 years of age her speech was delayed and she was in a special educational school. In clinic she was mildly ataxic and could not tandem walk nor stand on one foot. Mild horizontal nystagmus, abnormal pursuit and an intention tremor were noted. The rest of the neurological examination was normal. Maternal MRI demonstrated extreme hypoplasia/aplasia of the cerebellar hemispheres, elevated and fanned out vermis, flattening of the pons and a thin tectum. Since the mother is coping well with her disability she decided to continue the pregnancy. Conclusion: Non-progressive cerebellar ataxia (NPCA) encompasses a heterogenous group of conditions whose aetiology is poorly understood. X-linked and autosomal recessive forms of cerebellar hypoplasia have previously been described. We report a mother and a fetus with dominantly inherited (autosomal or x-linked) cerebellar hypoplasia. The degree of hypoplasia seen in the fetus was less severe than the mother. It would be difficult to predict the clinical outcome for the fetus when counselling the parents but in view of the maternal clinical picture we suspect it would be mild and non-progressive. P028 Risk factors for postneonatal epilepsy in a group of children with neonatal seizures S. Danojevic1 *, A. Soltirovska Salamon2 , D. Neubauer1,2 , D. Paro-Panjan2 . 1 Medical Faculty, University of Ljubljana, Slovenia; 2 University Medical Centre Ljubljana, Department of Neonatology and Child Neurology Objective: The aim of the study was to analyse risk factors for postneonatal epilepsy in a cohort of 44 children who experienced neonatal seizures and developed epilepsy later in life. Methods: 44 children, who developed epilepsy and were admitted to our department between 1997 and 2007 because of neonatal seizures, were studied retrospectively. Family history, pre- and perinatal risk factors, laboratory and imaging studies and aetiology were analyzed, and clinical presentation of seizures, timing and the duration of seizures. The results of neonatal EEGs and CFMs, imaging and neurological examination at the neonatal discharge were evaluated. Neonatal seizure type, combination and duration of anticonvulsants and outcome were analyzed regarding the type of epileptic seizures and outcome.