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DMP03 Pontocerebellar hypoplasia type 2: clinical and biochemical findings
Abstracts: Poster Presentations, the Seventh European Paediatric Neurology Society (EPNS) Congress Fifty-seven percent of boys of African ancestry (n = 7) with confirmed DMD had deletions, 47% of boys with mixed ancestry (n = 19) and 83% of boys of European ancestry (n = 6). Conclusion: In our cohort, children of African ancestry did not differ from the internationally reported genetic profile.
Developmental Malformations DMP01 Case report: Joubert syndrome H. Ergun1 *, S. Teber1 , M. Kafali1 , T. Sezer1 , T. Kendirli2 , G. Deda1 . 1 Department Of Pediatric Neurology, 2 Department Of Pediatric Intensive Care, Ankara University Medical School, Ankara, Turkey Joubert syndrome is a rare autosomal recessive disorder whose main clinical signs are hypotonia, ataxia, mental retardation, abnormal eye movements and a respiratory pattern of alternating tachypnea-apnea during first months of life. The most characteristic imaging features on cranial MRI is the molar tooth sign. Seventeen year old boy was admitted to our pediatric intensive care unit with respiratory insufficiency due to corneal perforation surgery. On physical examination he had severe malnutrition, prominent forehead, high rounded eyebrows, open mouth, tongue protrusion and abnormal respiratory pattern with intermittant hyperpnea and apnea episodes. On neurological examination he had severe mental retardation. He was very hypotonic, bedridden and he had contractures. He was also clinically blind with bilateral corneal clouding and microphthalmia. He had oculomotor apraxia. On abdominal USG he had cortical renal cysts. Cranial MRI showed molar tooth sign and coloboma posterior of the bulbus oculi. His condition was diagnosed as Joubert syndrome as he had all the diagnostic features of this rare syndrome. Although abnormal respiratory pattern usually disappears at the end of neonatal period, in our case, it still persisted until 17 years of age, making him a unique case. DMP02 Molecular and cytogenetic results of 13 patients with Joubert syndrome E. Karaca *, E.Y. Fenerci, A. Yuksel. Cerrahpasa Medical Faculty ¨ Department of Medical Genetics, Division of Pediatric Neurology, Istanbul Joubert syndrome related disorders (JSRDs) are a group of clinically and genetically heterogeneous conditions that share a midbrain-hindbrain malformation, the Molar Tooth Sign on brain imaging (MTS) with variable neurological, ocular and renal manifestations. Mutations in the CEP290 gene were recently identified in families with the MTSrelated neurological features, many of which showed oculorenal involvement typical of Senior-Loken syndrome (JSRD¨ SLS phenotype). We report 13 cases which have diagnoses of Joubert syndrome. Six of them were male. The diagnosis based on clinical features and cerebral imagings’ findings. Cytogenetic analysis revealed abnormality in two cases which are 46, XX, t(X;2) (p11.2; q37) and 46, XX; t(2;12) (q23; q21). We also performed comprehensive CEP290 mutation analysis on one JSRD patient with a proven MTS. We identified mutation in one patient with JSRD-SLS. In this poster we will discuss the defects in cytogenetic and moleculer analysis of these cases with reviewing of the literature.
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DMP03 Pontocerebellar hypoplasia type 2: clinical and biochemical findings C. Fons *, A. Ormazabal, R. Artuch, E. Fernandez, J. Campistol, A. Garc´ıa. Hospital Sant Joan de D´eu. Esplugues, Barcelona, Spain Introduction: Pontocerebellar hypoplasia type 2 (PCH2) is a rare neurogenetic syndrome with an autosomal recessive inheritance characterized by progressive microcephaly, early onset of extrapyramidal dyskinesia and severe developmental delay without neuromuscular involvement. We aimed to describe spectrum of movement disorders, outcome, complementary exams, mainly neurotrasmitters (NT) in CSF and response to treatments assayed in a group of patients with PCH2. Patients and Methods: We retrospectively compiled data from 5 non related females, ages between 3 12 months to 6 years who fulfill diagnosis criteria of PCH2. Clinical data especially about movement disorder type, complementary tests, treatment response and follow-up are reported. Results: Pregnancy and delivery were uneventful. Mean age at onset of hyperekplexia (n:5) was 12 months, tremulousness (n:3) at 9 months, myoclonic jerks (n:4) at 11 months and dystonic and choreoathetotic (n:2) at 16 months. Visual and hearing impairment were present in 2 and 3 cases respectively; epilepsy in 3 cases and was refractory to antiepileptic drugs. Neurodevelopment was severely delayed in all cases. We assayed L-Dopa in 2 cases with severe movement disorder and middle response to treatment was observed in one patient who also presented with low levels of NT in CSF. Discussion: PCH2 is a severe illness with an early onset of movement disorders. We report one case with low levels of NT in CSF, probably related to dopamine and serotonin pathways dysfunction. This finding should be confirmed in big series of patients. Treatment with L-Dopa combined with 5-OH-tryptophan could be assayed in order to improve dystonia. DMP04 Congenital left cerebellar hypoplasia in two siblings V. Pelagia *, E. Papadopoulou, P. Paspalaki, H. Michailidou, I. Maniadaki, M. Kalmanti. Pediatric Department, University Hospital Iraklion, Crete, Greece We present two siblings, a boy and a girl, with an identical neuroimaging finding on MRI (left cerebellar hypoplasia) and a different degree of neurological impairment. Their parents are phenotypically normal but probably with a certain degree of consanguinity and they have a third normal child. Both patients presented with a history of normal intrauterine growth, pregnancy and delivery. The girl now aged 16 years, presents with a mild neurodevelopmental delay, learning difficulties and behavioral problems, obesity, non-progressive mild ataxia, a well-controlled epilepsy and abnormal menses. The boy now aged 13 years has more severe medical problems. He is seriously mentally retarded with a history of West syndrome at the age of 5 months and active but controlled epilepsy. His neurological evaluation is pathologic with cerebellar signs and hypertonia of the extremities. He also has hypogonadism and hypothyroidism. None of the two children has any dysmorphic features. Metabolic screening did not reveal any specific abnormal finding and the disorder is not progressive. Neither the girl nor the boy has ever been deteriorated, except of two serious respiratory infections that the boy recently presented. We suggest the presence of a hereditary disease associating unilateral cerebellar hypoplasia, epilepsy, psychomotor retardation and hormonal disturbances.
Developmental Malformations DMP01 Case report: Joubert syndrome H. Ergun1 *, S. Teber1 , M. Kafali1 , T. Sezer1 , T. Kendirli2 , G. Deda1 . 1 Department Of Pediatric Neurology, 2 Department Of Pediatric Intensive Care, Ankara University Medical School, Ankara, Turkey Joubert syndrome is a rare autosomal recessive disorder whose main clinical signs are hypotonia, ataxia, mental retardation, abnormal eye movements and a respiratory pattern of alternating tachypnea-apnea during first months of life. The most characteristic imaging features on cranial MRI is the molar tooth sign. Seventeen year old boy was admitted to our pediatric intensive care unit with respiratory insufficiency due to corneal perforation surgery. On physical examination he had severe malnutrition, prominent forehead, high rounded eyebrows, open mouth, tongue protrusion and abnormal respiratory pattern with intermittant hyperpnea and apnea episodes. On neurological examination he had severe mental retardation. He was very hypotonic, bedridden and he had contractures. He was also clinically blind with bilateral corneal clouding and microphthalmia. He had oculomotor apraxia. On abdominal USG he had cortical renal cysts. Cranial MRI showed molar tooth sign and coloboma posterior of the bulbus oculi. His condition was diagnosed as Joubert syndrome as he had all the diagnostic features of this rare syndrome. Although abnormal respiratory pattern usually disappears at the end of neonatal period, in our case, it still persisted until 17 years of age, making him a unique case. DMP02 Molecular and cytogenetic results of 13 patients with Joubert syndrome E. Karaca *, E.Y. Fenerci, A. Yuksel. Cerrahpasa Medical Faculty ¨ Department of Medical Genetics, Division of Pediatric Neurology, Istanbul Joubert syndrome related disorders (JSRDs) are a group of clinically and genetically heterogeneous conditions that share a midbrain-hindbrain malformation, the Molar Tooth Sign on brain imaging (MTS) with variable neurological, ocular and renal manifestations. Mutations in the CEP290 gene were recently identified in families with the MTSrelated neurological features, many of which showed oculorenal involvement typical of Senior-Loken syndrome (JSRD¨ SLS phenotype). We report 13 cases which have diagnoses of Joubert syndrome. Six of them were male. The diagnosis based on clinical features and cerebral imagings’ findings. Cytogenetic analysis revealed abnormality in two cases which are 46, XX, t(X;2) (p11.2; q37) and 46, XX; t(2;12) (q23; q21). We also performed comprehensive CEP290 mutation analysis on one JSRD patient with a proven MTS. We identified mutation in one patient with JSRD-SLS. In this poster we will discuss the defects in cytogenetic and moleculer analysis of these cases with reviewing of the literature.
77
DMP03 Pontocerebellar hypoplasia type 2: clinical and biochemical findings C. Fons *, A. Ormazabal, R. Artuch, E. Fernandez, J. Campistol, A. Garc´ıa. Hospital Sant Joan de D´eu. Esplugues, Barcelona, Spain Introduction: Pontocerebellar hypoplasia type 2 (PCH2) is a rare neurogenetic syndrome with an autosomal recessive inheritance characterized by progressive microcephaly, early onset of extrapyramidal dyskinesia and severe developmental delay without neuromuscular involvement. We aimed to describe spectrum of movement disorders, outcome, complementary exams, mainly neurotrasmitters (NT) in CSF and response to treatments assayed in a group of patients with PCH2. Patients and Methods: We retrospectively compiled data from 5 non related females, ages between 3 12 months to 6 years who fulfill diagnosis criteria of PCH2. Clinical data especially about movement disorder type, complementary tests, treatment response and follow-up are reported. Results: Pregnancy and delivery were uneventful. Mean age at onset of hyperekplexia (n:5) was 12 months, tremulousness (n:3) at 9 months, myoclonic jerks (n:4) at 11 months and dystonic and choreoathetotic (n:2) at 16 months. Visual and hearing impairment were present in 2 and 3 cases respectively; epilepsy in 3 cases and was refractory to antiepileptic drugs. Neurodevelopment was severely delayed in all cases. We assayed L-Dopa in 2 cases with severe movement disorder and middle response to treatment was observed in one patient who also presented with low levels of NT in CSF. Discussion: PCH2 is a severe illness with an early onset of movement disorders. We report one case with low levels of NT in CSF, probably related to dopamine and serotonin pathways dysfunction. This finding should be confirmed in big series of patients. Treatment with L-Dopa combined with 5-OH-tryptophan could be assayed in order to improve dystonia. DMP04 Congenital left cerebellar hypoplasia in two siblings V. Pelagia *, E. Papadopoulou, P. Paspalaki, H. Michailidou, I. Maniadaki, M. Kalmanti. Pediatric Department, University Hospital Iraklion, Crete, Greece We present two siblings, a boy and a girl, with an identical neuroimaging finding on MRI (left cerebellar hypoplasia) and a different degree of neurological impairment. Their parents are phenotypically normal but probably with a certain degree of consanguinity and they have a third normal child. Both patients presented with a history of normal intrauterine growth, pregnancy and delivery. The girl now aged 16 years, presents with a mild neurodevelopmental delay, learning difficulties and behavioral problems, obesity, non-progressive mild ataxia, a well-controlled epilepsy and abnormal menses. The boy now aged 13 years has more severe medical problems. He is seriously mentally retarded with a history of West syndrome at the age of 5 months and active but controlled epilepsy. His neurological evaluation is pathologic with cerebellar signs and hypertonia of the extremities. He also has hypogonadism and hypothyroidism. None of the two children has any dysmorphic features. Metabolic screening did not reveal any specific abnormal finding and the disorder is not progressive. Neither the girl nor the boy has ever been deteriorated, except of two serious respiratory infections that the boy recently presented. We suggest the presence of a hereditary disease associating unilateral cerebellar hypoplasia, epilepsy, psychomotor retardation and hormonal disturbances.