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P281 Designing a disease registry for Niemann Pick disease type C
S108 majority between their first and second year of age. The group consisted of 23 children with mitochondrial cytopathies and 27 children with 25 different other types of diseases. Abnormal head circumference was found in 34% of these children. Body weight below the 50th percentile was observed in 80% of our children. Profound developmental/neurological deficit was foud in 32% of children, while 38% of them were concomittantly diagnosed with having epilepsy. Conclusions: Rare neurodegenerative diseases were equally distributed between both sexes. The most common diagnosis was mitochondrial cytopathy, the data comparable with those in the literature. Many children have had microcrania, below-average body weight and profound developmental/neurological deficit. Ocurrence of epilepsy in this group was very high in comparison to general population of the same age group. P279 Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in Turkish population 3 ¨ , H. Cakmak ¸ cı ¸ 4, U. Yi¸s1 *, G.C. Scheper2 , N. Uran3 , A. Unalp S. Hız Kurul5 , E. Dirik5 , M.S. van der Knaap2 . 1 Gaziantep Children’s Hospital, Division of Child Neurology, Gaziantep, Turkey; 2 VU University Medical Center, Department of Pediatrics, Division of Child Neurology, Amsterdam, The Netherlands; 3 Beh¸cet Uz Research and Educational Hospital, Department of Pediatrics, Division of Child Neurology, I˙zmir, Turkey; 4 Dokuz Eylul ¨ University School of Medicine Department of Radiology, I˙zmir, Turkey; 5 Dokuz Eylul ¨ University School of Medicine Department of Pediatrics, Division of Child Neurology, I˙zmir, Turkey
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive neurological disorder in children. Neurologic findings are initially normal or near normal despite megalencephaly and brain magnetic resonance imaging (MRI) of white matter involvement. The neurologic progression is generally slow and intellectual functioning is usually preserved for a long time despite loss of motor milestones and development of cerebellar ataxia. The cerebral hemispheric white matter appears diffusely swollen whereas gray matter structures are preserved. The presence of subcortical cysts in the anterior temporal and frontoparietal region is typical for the disease. It is one of the most commonly reported leukoencephalopathies in Turkey. Mutations in the MLC1 gene are the main cause of disease. We report two patients with megalencephalic leukoencephalopathy with subcortical cysts with confirmed mutations in the MLC1 gene. The mutation in the second patient was novel. We also reviewed identified mutations in the Turkish population. P280 Slc9a6 gene deficiency leads to endosomal lysosomal disturbance with neuronal degeneration in amygdala and cerebellum P. Stromme1,2 *, S.U. Walkley1 . 1 Neuroscience, Albert Einstein College of Medicine, New York, NY, USA; 2 Faculty of Medicine, University of Oslo, Oslo, Norway Objective: Deficiency of SLC9A6 in Xq26.3 was recently shown to cause severe developmental delay, cerebellar ataxia, seizures, and behavior abnormalities.1 The encoded Na+/H+ exchanger protein, NHE6, localizes to the early recycling endosome where it regulates intra-vesicular pH. The phenotype of knockout Slc9a6 mice has only been superficially studied. Our objective was to perform a more detailed analysis, including immunohistochemistry, Golgi staining, and EM examination of the brain in these animals. Methods: We bred knockout Slc9a6 −/+ female carriers with wild type +/0 males and selected after appropriate genotyping male −/0 and female −/− (“double”) mutants for analyses.
Posters Wild type littermates were used as controls. The brains have been stained with a variety of antibodies commonly used for detection of abnormally accumulated products seen in lysosomal disorders. Results: We examined a female double mutant at 19 days and a male mutant at 35 days of age and compared them to controls. Only the female mutant exhibited clinical motor deficits. In this animal we found densely positive staining for GM2 ganglioside in the amygdala, involving nearly all cells in a remarkably restricted area, possibly corresponding to the basolateral anterior nucleus. Scattered neurons in the nearby piriform cortex also exhibited GM2 accumulation. Similar staining was not present in controls. GM2 was also readily found in the male mutant in the same confined area. This mutant also showed loss of Purkinje cells and their dendritic branches, as well as axonal spheroids. Golgi and EM studies are in progress. Conclusions: The experiments suggest that Slc9a6 deficiency leads to disturbance of the endosomal lysosomal system with involvement of the amygdala that is striking and unusual. This may possibly reflect on behavioral changes observed in human patients. The observed loss of Purkinje cells in our mouse model is also consistent with ataxia in these patients. Reference(s) [1] Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjoholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Stromme P. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet 2008; 82: 1003−10.
P281 Designing a disease registry for Niemann Pick disease type C M. Pineda1 *, J.E. Wraith2 , F. Wijburg3 , E. Mengel4 , M.T. Vanier5 , B. Schwierin6 , R. Giorgino6 , M.C. Patterson7 . 1 Hospital Sant Joan de D´eu, Barcelona, Spain; 2 Royal Manchester Children’s Hospital, Manchester, UK; 3Academic Medical Centre, University Hospital of Amsterdam, Amsterdam, The Netherlands; 4 Villa Metabolica, University of Mainz, Mainz, Germany; 5 INSERM Unit 820, Laennec Medical School, Lyon, France; 6 Actelion Pharmaceuticals Ltd, Allschwil, Switzerland; 7 Mayo Clinic, Rochester, NY, USA Objective: We report the initiation of a disease registry, designed by an international scientific committee of experts, to evaluate long-term disease natural history in patients with Niemann Pick disease type C (NP-C). The registry includes both untreated patients and those treated with miglustat, the first available treatment for NP-C. Methods: This registry forms a multicentre, prospective, observational project. All included patients must have a confirmed diagnosis of NP-C; both untreated patients and those treated with miglustat are eligible for entry. Centres worldwide are encouraged to report data from NP-C patients attending their routine in- and/or out-patient visits. Patients and/or a legal guardian are required to provide written, informed consent. Demographic, diagnostic, treatment history and relevant disease-specific data are collected. Patient disability status is evaluated and followed using a disability scale that evaluates ambulation, manipulation, language and swallowing. For miglustat-treated patients, safety-related events and physician reports on adherence to drug labelling recommendations are recorded. Results and Data analysis: The total number of patients to be included in the registry will be open. Summary data including exploratory statistical analyses will be reported on a yearly basis. Kaplan Meier estimates of the proportion of patients without disability worsening (individual and
Posters combined disability scores) at different time points will be computed with two-sided 95% confidence limits. Cox modelling and multivariate logistic regression will be used to explore the relationship between potential prognostic factors, treatment and outcomes. Conclusion: This first international registry for patients with NP-C will provide further, valuable insight into the nature and progression of NP-C over time, and important additional information on patient outcomes from the use of miglustat as a therapy for patients with NP-C. P282 Clinical, pathological and radiological survey of patients with Leigh syndrome 3 ¨ ¸ cı ¸ 2 , E. Ozer . U. Yi¸s1 *, S. Hız Kurul1 , E. Dirik1 , H. Cakmak 1 Dokuz Eylul ¨ University School of Medicine, Department of Pediatrics, Division of Child Neurology, I˙zmir, Turkey; 2 Dokuz Eylul ¨ University School of Medicine, Department of Radiology, I˙zmir, Turkey; 3 Dokuz Eylul ¨ University School of Medicine, Department of Pathology, I˙zmir, Turkey
The aim of this study is to evaluate the clinical, pathological and radiological survey of patients with Leigh syndrome. We evaluated eleven patients with Leigh disease at Dokuz Eylul ¨ University, School of Medicine, Department of Pediatric Neurology. All patients underwent neurological evaluation with detailed medical and family history. Muscle biopsy from quadriceps muscle, brain magnetic resonance imaging and brain magnetic spectroscopy were obtained. The patients were between 1 month and 8 years of age (mean: 2.29±2.58 years). The most common presentation findings were psychomotor retardation and acute metabolic encephalopathy. All patients had elevated lactate in the blood and/or cerebrospinal fluid. Except two patients, brain magnetic resonance imaging revealed abnormal symmetrical lesions in the brainstem and basal ganglia. Brain magnetic resonance spectroscopy revealed abnormal lactate peak in all patients. The muscle biopsy of two patients showed cytocrom-c oxidase deficiency and measurement of respiratory chain complex in one patient revealed complex I and IV deficiency. One patient was found to carry mitochondrial T8993C mutation. There are no specific markers for Leigh disease which lead to extensive work-up. The disease should be considered in patients who present progressive neurologic symptoms involving brainstem and basal ganglia. P283 Unusual findings in Leigh syndrome caused by T8993C mutation 3 ¨ , U. Yi¸s1 *, S. Seneca2 , E. Dirik1 , S. Hız Kurul1 , E. Ozer H. Cakmak ¸ cı ¸ 4 , L. De Meirleir5 . 1 Department of Pediatrics, Division of Child Neurology, Dokuz Eylul ¨ University School of Medicine, I˙zmir, Turkey; 2 Center for Medical Genetics, Neurology AZ-VUB, Dutch-speaking Free University of Brussels, Brussels, Belgium; 3 Department of Pathology, Dokuz Eylul ¨ University School of Medicine, I˙zmir, Turkey; 4 Department of Radiology, Dokuz Eylul ¨ University School of Medicine, I˙zmir, Turkey; 5 Department of Pediatrics, Neurology AZ-VUB, Dutch-speaking Free University of Brussels, Brussels, Belgium The pathological nature of Leigh syndrome is highly variable and depends on the underlying mitochondrial or nuclear genome defect. Mitochondrial m.8993T>G and m.8993T>C mutations are responsible for both NARP (neurogenic weakness, ataxia and retinitis pigmentosa) and Leigh syndrome. The clinical findings of Leigh syndrome caused by the m.8993T>C mutation are less severe than those associated with the m.8993T>G mutation, and ragged red fibers, oligoclonal bands in cerebrospinal fluid, and additional deficiencies of respiratory enzyme complexes are usually not found.
S109 This report presents a two year old girl with Leigh syndrome caused by a m.8993T>C mutation. Interestingly she had ragged red fibers in muscle tissue, oligoclonal bands in CSF and deficiencies of complex I and IV. P284 Pontine tegmental cap dysplasia − the first reported UK series K.R.M. Martin1 *, T. Jaspan2 , W.P. Whitehouse3,6 , R.E. Morton5 , M. Suri4 . 1 Child Development Centre, Nottingham University Hospitals NHS Trust, UK; 2 Department of Paediatric Neuroimaging, Nottingham University Hospitals NHS Trust, UK; 3 Department of Paediatric Neurology, Nottingham University Hospitals NHS Trust, UK; 4 Clinical Genetics Service, Nottingham University Hospitals NHS Trust, UK; 5 Ronnie MacKeith Child Development Centre, Derbyshire Children’s Hospital, UK; 6 Section of Human Development, University of Nottingham, UK Objectives: In 2007 Barth et al. reported four unrelated patients with a distinctive developmental anomaly of the brainstem and cerebellum for which they proposed the term ‘pontine tegmental cap dysplasia’ (PTCD) [1]. They also identified two cases from the literature [2,3]. All patients with PTCD have had severe to profound congenital nerve deafness together with variable findings such as developmental delay, impaired swallowing, ataxia, other cranial nerve anomalies and bony vertebral anomalies. MRI has demonstrated cerebellar vermis hypoplasia, subtotal absence of middle cerebellar peduncles, flattened ventral pons with vaulted pontine tegmentum (the ‘pontine tegmental cap’), ‘molar-tooth’ look alike brainstem anomaly, absent inferior olivary eminence, reduced diameter of the internal auditory meati with hypoplastic VII and VIII cranial nerves and normal cochlear morphology. We aimed to identify cases of PTCD within our paediatric caseload. Methods: We conducted a retrospective review of case notes and neuroimaging. Results: We identified three patients with the typical radiological features of PTCD (2 females aged 13 and 19 years, one male aged 3 years). All three had sensorineural hearing loss, neonatal feeding difficulties, nystagmus and developmental delay. Variable features included other cranial nerve palsies and ataxia. Conclusions: We describe the first UK series of children with PTCD, a recognisable posterior fossa developmental anomaly associated with congenital hearing impairment and other abnormalities. All reported cases have been sporadic. We describe the longest follow-up period for a patient identified as having this condition. It is likely that other as yet unrecognised cases exist. Reference(s) [1] Barth PG, et al. Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance. Brain 2007;130:2258 2266. [2] Maeoka Y, et al. Pontine hypoplasia in a child with sensorineural deafness. Brain Dev 1997:19:436 439. [3] Ouanounou S, et al. Mobius syndrome. Am J Neuroradiol 2005; ¨ 26:430 432.
P285 Diffusion weighted imaging and MR spectroscopy findings in a case of neonatal hypoglycaemia R.E. Musson1 , R. Batty1 , S.R. Mordekar2 *, I.D. Wilkinson3 , P.D. Griffiths3 , D.J.A. Connolly1,4 . 1 Radiology Department, Royal Hallamshire Hospital, Sheffield; 2 Paediatric Neurology, Sheffield Children’s Hospital; 3Academic Unit of Radiology, University of Sheffield; 4 Radiology Department, Sheffield Children’s Hospital, United Kingdom Objective: We present a neonate with hypoglycaemic encephalopathy and the findings on standard Magnetic Resonance (MR), diffusion weighted imaging (DWI) and
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive neurological disorder in children. Neurologic findings are initially normal or near normal despite megalencephaly and brain magnetic resonance imaging (MRI) of white matter involvement. The neurologic progression is generally slow and intellectual functioning is usually preserved for a long time despite loss of motor milestones and development of cerebellar ataxia. The cerebral hemispheric white matter appears diffusely swollen whereas gray matter structures are preserved. The presence of subcortical cysts in the anterior temporal and frontoparietal region is typical for the disease. It is one of the most commonly reported leukoencephalopathies in Turkey. Mutations in the MLC1 gene are the main cause of disease. We report two patients with megalencephalic leukoencephalopathy with subcortical cysts with confirmed mutations in the MLC1 gene. The mutation in the second patient was novel. We also reviewed identified mutations in the Turkish population. P280 Slc9a6 gene deficiency leads to endosomal lysosomal disturbance with neuronal degeneration in amygdala and cerebellum P. Stromme1,2 *, S.U. Walkley1 . 1 Neuroscience, Albert Einstein College of Medicine, New York, NY, USA; 2 Faculty of Medicine, University of Oslo, Oslo, Norway Objective: Deficiency of SLC9A6 in Xq26.3 was recently shown to cause severe developmental delay, cerebellar ataxia, seizures, and behavior abnormalities.1 The encoded Na+/H+ exchanger protein, NHE6, localizes to the early recycling endosome where it regulates intra-vesicular pH. The phenotype of knockout Slc9a6 mice has only been superficially studied. Our objective was to perform a more detailed analysis, including immunohistochemistry, Golgi staining, and EM examination of the brain in these animals. Methods: We bred knockout Slc9a6 −/+ female carriers with wild type +/0 males and selected after appropriate genotyping male −/0 and female −/− (“double”) mutants for analyses.
Posters Wild type littermates were used as controls. The brains have been stained with a variety of antibodies commonly used for detection of abnormally accumulated products seen in lysosomal disorders. Results: We examined a female double mutant at 19 days and a male mutant at 35 days of age and compared them to controls. Only the female mutant exhibited clinical motor deficits. In this animal we found densely positive staining for GM2 ganglioside in the amygdala, involving nearly all cells in a remarkably restricted area, possibly corresponding to the basolateral anterior nucleus. Scattered neurons in the nearby piriform cortex also exhibited GM2 accumulation. Similar staining was not present in controls. GM2 was also readily found in the male mutant in the same confined area. This mutant also showed loss of Purkinje cells and their dendritic branches, as well as axonal spheroids. Golgi and EM studies are in progress. Conclusions: The experiments suggest that Slc9a6 deficiency leads to disturbance of the endosomal lysosomal system with involvement of the amygdala that is striking and unusual. This may possibly reflect on behavioral changes observed in human patients. The observed loss of Purkinje cells in our mouse model is also consistent with ataxia in these patients. Reference(s) [1] Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjoholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Stromme P. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet 2008; 82: 1003−10.
P281 Designing a disease registry for Niemann Pick disease type C M. Pineda1 *, J.E. Wraith2 , F. Wijburg3 , E. Mengel4 , M.T. Vanier5 , B. Schwierin6 , R. Giorgino6 , M.C. Patterson7 . 1 Hospital Sant Joan de D´eu, Barcelona, Spain; 2 Royal Manchester Children’s Hospital, Manchester, UK; 3Academic Medical Centre, University Hospital of Amsterdam, Amsterdam, The Netherlands; 4 Villa Metabolica, University of Mainz, Mainz, Germany; 5 INSERM Unit 820, Laennec Medical School, Lyon, France; 6 Actelion Pharmaceuticals Ltd, Allschwil, Switzerland; 7 Mayo Clinic, Rochester, NY, USA Objective: We report the initiation of a disease registry, designed by an international scientific committee of experts, to evaluate long-term disease natural history in patients with Niemann Pick disease type C (NP-C). The registry includes both untreated patients and those treated with miglustat, the first available treatment for NP-C. Methods: This registry forms a multicentre, prospective, observational project. All included patients must have a confirmed diagnosis of NP-C; both untreated patients and those treated with miglustat are eligible for entry. Centres worldwide are encouraged to report data from NP-C patients attending their routine in- and/or out-patient visits. Patients and/or a legal guardian are required to provide written, informed consent. Demographic, diagnostic, treatment history and relevant disease-specific data are collected. Patient disability status is evaluated and followed using a disability scale that evaluates ambulation, manipulation, language and swallowing. For miglustat-treated patients, safety-related events and physician reports on adherence to drug labelling recommendations are recorded. Results and Data analysis: The total number of patients to be included in the registry will be open. Summary data including exploratory statistical analyses will be reported on a yearly basis. Kaplan Meier estimates of the proportion of patients without disability worsening (individual and
Posters combined disability scores) at different time points will be computed with two-sided 95% confidence limits. Cox modelling and multivariate logistic regression will be used to explore the relationship between potential prognostic factors, treatment and outcomes. Conclusion: This first international registry for patients with NP-C will provide further, valuable insight into the nature and progression of NP-C over time, and important additional information on patient outcomes from the use of miglustat as a therapy for patients with NP-C. P282 Clinical, pathological and radiological survey of patients with Leigh syndrome 3 ¨ ¸ cı ¸ 2 , E. Ozer . U. Yi¸s1 *, S. Hız Kurul1 , E. Dirik1 , H. Cakmak 1 Dokuz Eylul ¨ University School of Medicine, Department of Pediatrics, Division of Child Neurology, I˙zmir, Turkey; 2 Dokuz Eylul ¨ University School of Medicine, Department of Radiology, I˙zmir, Turkey; 3 Dokuz Eylul ¨ University School of Medicine, Department of Pathology, I˙zmir, Turkey
The aim of this study is to evaluate the clinical, pathological and radiological survey of patients with Leigh syndrome. We evaluated eleven patients with Leigh disease at Dokuz Eylul ¨ University, School of Medicine, Department of Pediatric Neurology. All patients underwent neurological evaluation with detailed medical and family history. Muscle biopsy from quadriceps muscle, brain magnetic resonance imaging and brain magnetic spectroscopy were obtained. The patients were between 1 month and 8 years of age (mean: 2.29±2.58 years). The most common presentation findings were psychomotor retardation and acute metabolic encephalopathy. All patients had elevated lactate in the blood and/or cerebrospinal fluid. Except two patients, brain magnetic resonance imaging revealed abnormal symmetrical lesions in the brainstem and basal ganglia. Brain magnetic resonance spectroscopy revealed abnormal lactate peak in all patients. The muscle biopsy of two patients showed cytocrom-c oxidase deficiency and measurement of respiratory chain complex in one patient revealed complex I and IV deficiency. One patient was found to carry mitochondrial T8993C mutation. There are no specific markers for Leigh disease which lead to extensive work-up. The disease should be considered in patients who present progressive neurologic symptoms involving brainstem and basal ganglia. P283 Unusual findings in Leigh syndrome caused by T8993C mutation 3 ¨ , U. Yi¸s1 *, S. Seneca2 , E. Dirik1 , S. Hız Kurul1 , E. Ozer H. Cakmak ¸ cı ¸ 4 , L. De Meirleir5 . 1 Department of Pediatrics, Division of Child Neurology, Dokuz Eylul ¨ University School of Medicine, I˙zmir, Turkey; 2 Center for Medical Genetics, Neurology AZ-VUB, Dutch-speaking Free University of Brussels, Brussels, Belgium; 3 Department of Pathology, Dokuz Eylul ¨ University School of Medicine, I˙zmir, Turkey; 4 Department of Radiology, Dokuz Eylul ¨ University School of Medicine, I˙zmir, Turkey; 5 Department of Pediatrics, Neurology AZ-VUB, Dutch-speaking Free University of Brussels, Brussels, Belgium The pathological nature of Leigh syndrome is highly variable and depends on the underlying mitochondrial or nuclear genome defect. Mitochondrial m.8993T>G and m.8993T>C mutations are responsible for both NARP (neurogenic weakness, ataxia and retinitis pigmentosa) and Leigh syndrome. The clinical findings of Leigh syndrome caused by the m.8993T>C mutation are less severe than those associated with the m.8993T>G mutation, and ragged red fibers, oligoclonal bands in cerebrospinal fluid, and additional deficiencies of respiratory enzyme complexes are usually not found.
S109 This report presents a two year old girl with Leigh syndrome caused by a m.8993T>C mutation. Interestingly she had ragged red fibers in muscle tissue, oligoclonal bands in CSF and deficiencies of complex I and IV. P284 Pontine tegmental cap dysplasia − the first reported UK series K.R.M. Martin1 *, T. Jaspan2 , W.P. Whitehouse3,6 , R.E. Morton5 , M. Suri4 . 1 Child Development Centre, Nottingham University Hospitals NHS Trust, UK; 2 Department of Paediatric Neuroimaging, Nottingham University Hospitals NHS Trust, UK; 3 Department of Paediatric Neurology, Nottingham University Hospitals NHS Trust, UK; 4 Clinical Genetics Service, Nottingham University Hospitals NHS Trust, UK; 5 Ronnie MacKeith Child Development Centre, Derbyshire Children’s Hospital, UK; 6 Section of Human Development, University of Nottingham, UK Objectives: In 2007 Barth et al. reported four unrelated patients with a distinctive developmental anomaly of the brainstem and cerebellum for which they proposed the term ‘pontine tegmental cap dysplasia’ (PTCD) [1]. They also identified two cases from the literature [2,3]. All patients with PTCD have had severe to profound congenital nerve deafness together with variable findings such as developmental delay, impaired swallowing, ataxia, other cranial nerve anomalies and bony vertebral anomalies. MRI has demonstrated cerebellar vermis hypoplasia, subtotal absence of middle cerebellar peduncles, flattened ventral pons with vaulted pontine tegmentum (the ‘pontine tegmental cap’), ‘molar-tooth’ look alike brainstem anomaly, absent inferior olivary eminence, reduced diameter of the internal auditory meati with hypoplastic VII and VIII cranial nerves and normal cochlear morphology. We aimed to identify cases of PTCD within our paediatric caseload. Methods: We conducted a retrospective review of case notes and neuroimaging. Results: We identified three patients with the typical radiological features of PTCD (2 females aged 13 and 19 years, one male aged 3 years). All three had sensorineural hearing loss, neonatal feeding difficulties, nystagmus and developmental delay. Variable features included other cranial nerve palsies and ataxia. Conclusions: We describe the first UK series of children with PTCD, a recognisable posterior fossa developmental anomaly associated with congenital hearing impairment and other abnormalities. All reported cases have been sporadic. We describe the longest follow-up period for a patient identified as having this condition. It is likely that other as yet unrecognised cases exist. Reference(s) [1] Barth PG, et al. Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance. Brain 2007;130:2258 2266. [2] Maeoka Y, et al. Pontine hypoplasia in a child with sensorineural deafness. Brain Dev 1997:19:436 439. [3] Ouanounou S, et al. Mobius syndrome. Am J Neuroradiol 2005; ¨ 26:430 432.
P285 Diffusion weighted imaging and MR spectroscopy findings in a case of neonatal hypoglycaemia R.E. Musson1 , R. Batty1 , S.R. Mordekar2 *, I.D. Wilkinson3 , P.D. Griffiths3 , D.J.A. Connolly1,4 . 1 Radiology Department, Royal Hallamshire Hospital, Sheffield; 2 Paediatric Neurology, Sheffield Children’s Hospital; 3Academic Unit of Radiology, University of Sheffield; 4 Radiology Department, Sheffield Children’s Hospital, United Kingdom Objective: We present a neonate with hypoglycaemic encephalopathy and the findings on standard Magnetic Resonance (MR), diffusion weighted imaging (DWI) and