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MLP017 Lowe syndrome (oculo-cerebro-renal syndrome): case report
Abstracts: Poster Presentations, the Seventh European Paediatric Neurology Society (EPNS) Congress MLP016 Menkes’ disease: case report 1
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V. Zykov *, I. Stepanischev , A. Larionova , I. Komarova , M. Samigulina2 , L. Katasonova2 , T. Podkletnova1 , U. Molotkova1 . 1 Russian Medical Academy of Postgraduate Education, 2Tushinski Children’s Hospital, Russia Background: Menkes disease (MD) is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. It is characterized by altered hair structure, symptomatic epilepsy, severe mental retardation and muscle tone disorders. Aim: Aim of the study was to describe a case of MD in 14month old child. Material: medical documentation of girl with MD. Results: The specific character for this case is burdened familial history concerning hereditary diseases (dead born children, birth of a child with multiple defects of development, birth of a child with Niemann-Pick Disease, death within the first year among relative’s children). The diagnosis was established by 9 months of age according to the characteristic complex of signs (strong disorder of psychomotor development, polymorphic seizures; dry, kinky, easily broken hairs; diffuse muscle hypotonia) and detected mutations of the Xq13.3 gene. This child died from the double destructive bronchopneumonia at the age of 14 months. Conclusion: MD is very severe disorder with poor prognosis. The treatment options are limited. Copper histidine by parenteral reposition 200 1000 mg/day might be beneficial in some cases when given early in the course of the disease. There is no clinical experience of this drug in Russia.
MLP017 Lowe syndrome (oculo-cerebro-renal syndrome): case report V. Sabolic Avramovska1 *, F. Duma1 , V. Tasic1 , M. Ludwig2 , P. Korneti3 . 1 University Children’s Hospital, Skopje, Macedonia, 2 Dept.of Clinical Biochemistry, University of Bonn, Bonn, Germany, 3 Dept. of Biochemistry, Medical School Skopje, Skopje, Macedonia Introduction: Lowe Syndrome (LS) is a rare X-linked recessive disease, characterized by congenital cataracts, renal Fanconi syndrome, generalized hypotonia and often mental retardation. It is caused by mutations in the OCRL1 gene, which encodes an essential enzyme, phosphatidylinositol 4.5-bisphosphate phosphatase. Case report: An 18-month-old male infant, second child of non-consanguineous parents was born after uneventful pregnancy with birth weight of 2500gr. Bilateral cataracts was diagnosed when he was two months old. He was admitted at hospital because of psychomotor delay and cataracts. Neurological examination has shown convergent strabismus, horizontal nystagmus, and generalized hypotonia with absent deep-tendon reflexes. Biochemical examination revealed low molecular weight proteinuria, hypercalciuria, hyperaminoaciduria, and mildly elevated creatine kinase. EMG was myopathic. The changes on the MRI of the brain were non-specific. Slit lamp investigation revealed that his mother had bilateral lental opacities. Genetic analysis revealed a novel mutation in the OCRL1 gene. The mutation detected is located in intron 10 and substitutes the invariant G at position 1 at the splice site of exon 11 to A (IVS 10−1G-to-A). The effect of this mutation is exon-skipping. The mother was identified as a carrier of this mutation. Conclusion: We present a novel OCRL1 gene mutation in a Macedonian Lowe patient. Detection of lental opacities in the mother pointed to the possible diagnosis of Lowe syndrome which was confirmed by mutational analysis of the OCRL1 gene.
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MLP018 Intrauterine treatment in pyridoxine-dependent seizures L. Bok1 *, G. Salomons3 , E. Struys3 , C. Jakobs4 , M. Willemsen2 . 1 Maxima Medisch Centrum, Veldhoven, 2 Universitair Medisch Centrum St Radboud, Nijmegen, 3 Metabolic Unit, Department of Clinical Chemistry, VU Medical Centre, Amsterdam, the Netherlands PDS is an autosomal recessive disorder, generally presenting with intractable neonatal seizures, caused by alphaaminoadipic semialdehyde dehydrogenase deficiency. PDS is usually associated with cognitive defects, even treated properly, and it’s suggested that antenatal pyridoxine treatment may improve neurodevelopment. Limited data however are available regarding intrauterine treatment. We present a well documented case and discuss the ratioof antenatal treatment of potential PDS patients. Case: A girl was clinically diagnosed with PDS because of neonatal seizures responding to pyridoxine. The mother was advised to use pyridoxine starting from the first trimester during her second pregnancy. No abnormal fetal movements were noticed in contrast to the first pregnancy. After birth, the boy received pyridoxine treatment from the first day of life. Seizures were never noticed. At age 2 year, cerebral MRI showed bilateral white matter abnormalities. His psychomotor development was delayed but to a lesser extent than his sister. Biochemical and DNA analysis confirmed PDS in both. Conclusion: After a previous child with PDS, mothers should be supplemented pyridoxine to prevent neonatal seizures in potentially affected sibs. Our case confirms that early onset treatment prevents neonatal seizures, but may not prevent the development of mild encephalopathy.
Neuromuscular disorders − I NMP01 Condition of the segmentary device of the spinal cord in children with combined defects of CNS N. Sharipova, G. Sodykova *, G. Tursunkhojaeva. Tashkent Pediatric Medical Institute, Uzbekistan Purpose: Studying a condition of the segmentary device of a spinal cord at children with organic defeat of CNS, and also role of infringements of functions of the segmentary device in becoming pathological impellent stereotypes. Methods: We carried out clinical-neurological inspection of 65 patients in age of 1−14 years, with organic diseases of CNS. At patients were investigated also spinal-adductores reflexes: McKarthy, Razdolsky, Balducci, cross spinal-adductor reflex. Results: We have divided the surveyed patients into 3 groups: i. Patients with organic defeat of brain (n = 23). ii. Patients with combined defeat of brain and spine (n = 21). iii. Patients with defeat of spine (n = 21). In clinical picture at patients with involving in pathological process of spine were observed contracture of joints, equinovarus and equinovalgus deformations. On electromyogramm at children of I group increase of amplitude of an F-wave, increase in ratio of H-reflex/M-answer was observed. At children of II and III group decrease or absence of the H-reflex, decrease of the M-answer. Thus, at children with combined defeat of brain and spine, because of involving in process of the segmentary device of spine pathological stereotypes and installations are formed.
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V. Zykov *, I. Stepanischev , A. Larionova , I. Komarova , M. Samigulina2 , L. Katasonova2 , T. Podkletnova1 , U. Molotkova1 . 1 Russian Medical Academy of Postgraduate Education, 2Tushinski Children’s Hospital, Russia Background: Menkes disease (MD) is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. It is characterized by altered hair structure, symptomatic epilepsy, severe mental retardation and muscle tone disorders. Aim: Aim of the study was to describe a case of MD in 14month old child. Material: medical documentation of girl with MD. Results: The specific character for this case is burdened familial history concerning hereditary diseases (dead born children, birth of a child with multiple defects of development, birth of a child with Niemann-Pick Disease, death within the first year among relative’s children). The diagnosis was established by 9 months of age according to the characteristic complex of signs (strong disorder of psychomotor development, polymorphic seizures; dry, kinky, easily broken hairs; diffuse muscle hypotonia) and detected mutations of the Xq13.3 gene. This child died from the double destructive bronchopneumonia at the age of 14 months. Conclusion: MD is very severe disorder with poor prognosis. The treatment options are limited. Copper histidine by parenteral reposition 200 1000 mg/day might be beneficial in some cases when given early in the course of the disease. There is no clinical experience of this drug in Russia.
MLP017 Lowe syndrome (oculo-cerebro-renal syndrome): case report V. Sabolic Avramovska1 *, F. Duma1 , V. Tasic1 , M. Ludwig2 , P. Korneti3 . 1 University Children’s Hospital, Skopje, Macedonia, 2 Dept.of Clinical Biochemistry, University of Bonn, Bonn, Germany, 3 Dept. of Biochemistry, Medical School Skopje, Skopje, Macedonia Introduction: Lowe Syndrome (LS) is a rare X-linked recessive disease, characterized by congenital cataracts, renal Fanconi syndrome, generalized hypotonia and often mental retardation. It is caused by mutations in the OCRL1 gene, which encodes an essential enzyme, phosphatidylinositol 4.5-bisphosphate phosphatase. Case report: An 18-month-old male infant, second child of non-consanguineous parents was born after uneventful pregnancy with birth weight of 2500gr. Bilateral cataracts was diagnosed when he was two months old. He was admitted at hospital because of psychomotor delay and cataracts. Neurological examination has shown convergent strabismus, horizontal nystagmus, and generalized hypotonia with absent deep-tendon reflexes. Biochemical examination revealed low molecular weight proteinuria, hypercalciuria, hyperaminoaciduria, and mildly elevated creatine kinase. EMG was myopathic. The changes on the MRI of the brain were non-specific. Slit lamp investigation revealed that his mother had bilateral lental opacities. Genetic analysis revealed a novel mutation in the OCRL1 gene. The mutation detected is located in intron 10 and substitutes the invariant G at position 1 at the splice site of exon 11 to A (IVS 10−1G-to-A). The effect of this mutation is exon-skipping. The mother was identified as a carrier of this mutation. Conclusion: We present a novel OCRL1 gene mutation in a Macedonian Lowe patient. Detection of lental opacities in the mother pointed to the possible diagnosis of Lowe syndrome which was confirmed by mutational analysis of the OCRL1 gene.
71
MLP018 Intrauterine treatment in pyridoxine-dependent seizures L. Bok1 *, G. Salomons3 , E. Struys3 , C. Jakobs4 , M. Willemsen2 . 1 Maxima Medisch Centrum, Veldhoven, 2 Universitair Medisch Centrum St Radboud, Nijmegen, 3 Metabolic Unit, Department of Clinical Chemistry, VU Medical Centre, Amsterdam, the Netherlands PDS is an autosomal recessive disorder, generally presenting with intractable neonatal seizures, caused by alphaaminoadipic semialdehyde dehydrogenase deficiency. PDS is usually associated with cognitive defects, even treated properly, and it’s suggested that antenatal pyridoxine treatment may improve neurodevelopment. Limited data however are available regarding intrauterine treatment. We present a well documented case and discuss the ratioof antenatal treatment of potential PDS patients. Case: A girl was clinically diagnosed with PDS because of neonatal seizures responding to pyridoxine. The mother was advised to use pyridoxine starting from the first trimester during her second pregnancy. No abnormal fetal movements were noticed in contrast to the first pregnancy. After birth, the boy received pyridoxine treatment from the first day of life. Seizures were never noticed. At age 2 year, cerebral MRI showed bilateral white matter abnormalities. His psychomotor development was delayed but to a lesser extent than his sister. Biochemical and DNA analysis confirmed PDS in both. Conclusion: After a previous child with PDS, mothers should be supplemented pyridoxine to prevent neonatal seizures in potentially affected sibs. Our case confirms that early onset treatment prevents neonatal seizures, but may not prevent the development of mild encephalopathy.
Neuromuscular disorders − I NMP01 Condition of the segmentary device of the spinal cord in children with combined defects of CNS N. Sharipova, G. Sodykova *, G. Tursunkhojaeva. Tashkent Pediatric Medical Institute, Uzbekistan Purpose: Studying a condition of the segmentary device of a spinal cord at children with organic defeat of CNS, and also role of infringements of functions of the segmentary device in becoming pathological impellent stereotypes. Methods: We carried out clinical-neurological inspection of 65 patients in age of 1−14 years, with organic diseases of CNS. At patients were investigated also spinal-adductores reflexes: McKarthy, Razdolsky, Balducci, cross spinal-adductor reflex. Results: We have divided the surveyed patients into 3 groups: i. Patients with organic defeat of brain (n = 23). ii. Patients with combined defeat of brain and spine (n = 21). iii. Patients with defeat of spine (n = 21). In clinical picture at patients with involving in pathological process of spine were observed contracture of joints, equinovarus and equinovalgus deformations. On electromyogramm at children of I group increase of amplitude of an F-wave, increase in ratio of H-reflex/M-answer was observed. At children of II and III group decrease or absence of the H-reflex, decrease of the M-answer. Thus, at children with combined defeat of brain and spine, because of involving in process of the segmentary device of spine pathological stereotypes and installations are formed.