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P295 New onset neurological symptoms in patients with phenylketonuria owing to B12 deficiency
Posters P295 New onset neurological symptoms in patients with phenylketonuria owing to B12 deficiency U. Kaya1 , D. Yalnizoglu1 , G. Turanli1 *, S. Unal2 , K. Karli Oguz4 , S. Sivri3 , A. Dursun3 , M. Topcu1 . 1 Pediatric Neurology, Hacettepe University Children’s Hospital, Ankara, Turkey; 2 Pediatric Hematology, Hacettepe University Children’s Hospital, Ankara, Turkey; 3 Pediatric Metabolism and Nutrition, Hacettepe University Children’s Hospital, Ankara, Turkey; 4 Radiology, Hacettepe University Hospitals, Ankara, Turkey Introduction: Patients with phenylketonuria (PKU) should be placed on diet treatment promptly to prevent irreversible neurological damage. Long term treatment with phenyl alanin and protein deficient diet may result in vitamin B12 deficiency and subsequent neurological problems. Methods: We present two adolescent cases with PKU who were admitted with new onset neurological symptoms. First patient was a 16 year old girl who was diagnosed with PKU at 20 months of age. She was developmentally normal and was attending high school. She presented with left hemiparesis, hindering of motion and reading difficulty. Neurological examination showed left hemiparesis, MRI revealed diffuse dysmyelinating lesions most prominent in centrum semiovale and bilateral parietal regions. She subsequently developed partial onset seizures, she was placed on carbamazepin with complete seizure control. Second case was 16 years old and was diagnosed with PKU at 7 months of age. He had mild mental retardation and presented with gait problems. On examination he had spastic paraparesis. His MRI showed dysmyelination in the periventricular white matter. Both patients were diagnosed with B12 deficiency. Results: Both patients responded to B12 supplement therapy. First case totally recovered with improvement on MRI findings. Second case showed remarkable amelioration of his neurological findings. Discussion and Conclusions: Long term treatment with phenyl alanin and protein deficient diet in patients with PKU may cause B12 deficiency. Adolescent patients with PKU are at risk for developing neurological complications owing to vitamin B12 deficiency. We conclude that these patients should be monitored for vitamin B12 along with appropriate diet treatment for age. Reference(s) [1] Hvas AM, Nexo E, Nielsen JB. Vitamin B12 and vitamin B6 supplementation is needed among adults with phenylketonuria (PKU). J Inherit Metab Dis 2006;29(1):47−53. [2] Robinson M, White FJ, Cleary MA, Wraith E, Lam WK, Walter JH. Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet. J Pediatr 2000;136(4):545−7. [3] Hanley WB, Feigenbaum AS, Clarke JT, Schoonheyt WE, Austin VJ. Vitamin B12 deficiency in adolescents and young adults with phenylketonuria. Eur J Pediatr 1996; 155 (1): 145−7 [4] Przyrembel H, Bremer HJ. Nutrition, physical growth, and bone density in treated phenylketonuria. Eur J Pediatr 2000; 159(2): 129−35. [5] Sener RN. Diffusion MRI findings in phenylketonuria. Eur Radiol 2003; 13(6): 226−9. [6] Leuzzi V, Tosetti M, Montanaro D et.al. The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study. J Inherit Metab Dis. 2007; 30(2): 209−16.
P296 GLUT1 deficiency with paroxysmal gait, movement and behaviour disorder and mild transient epilepsy P.-Y. Jeannet1 *, L. Bonafe´ 2 , E. Roulet-Perez1 . 1 Neuropediatric Unit, CHUV, Lausanne, Switzerland; 2 Molecular Pediatric Division, CHUV, Lausanne, Switzerland Glut1 deficiency syndrome classically presents with the association of epilepsy in infancy or early childhood, micro-
S113 cephaly, developmental delay and a “complex” movement disorder. Other phenotypes have rarely been described with mild epilepsy or isolated movement disorder. We report a 7 yo girl who initially presented with 4 paroxysmal episodes compatible with complex partial seizures between 10 and 18 months with a normal EEG. At age 2 she walked on toes intermittently, her gait was always peculiar and difficult to describe: unsteady, but not wide-based, with marked fluctuations in the day, with sudden extreme fatigue and refusal to walk lasting from minutes to several days. EEG at 30 months showed frequent generalized discharges and we suspected an epileptic gait disorder although no electroclinical correlation could be found. Valproate was started and brought a transient improvement of gait. Mild chorea appeared around 5 yo and later fluctuated in intensity. Behavior was also fluctuating with unexplained mood swings. All symptoms increased with illness or fatigue. OFC always remained on the 3rd percentile., speech was slightly scanned. Total IQ was 74 at age 4, and 81 at age 6. Blood/CSF glucose ratio was 0.45 and a previously unreported c.1223G>T mutation was found in exon 9 of the SLC2A1 gene. Ketogenic diet was introduced at age 7, and after one month the gait, chorea and behavior had already improved. Several video sequences of the gait and movement disorder were taken at various ages. GLUT1 deficiency should be considered in a child presenting with the association of a peculiar, difficult to describe, fluctuating gait, chorea and behavior disturbance even if the epilepsy is not in the forefront. Although similar phenotypes have rarely been described, detailed descriptions of the very unusual and fluctuating symptoms are lacking. P297 The nurse’s role in treating children with a neurometabolic disease L. Coleman-Bozic1 *, T. Tomic1 , R. Samija-Kuzmanic1 , B. Resic1 . 1 Department of Neurology, Paediatric Clinic, University Hospital Split, Split, Croatia Pompe disease is an autosomal recessive genetic disorder caused by a deficiency or dysfunction of the lysomomal hydrolase acid alpha-glucosidase (GAA). Mutations in the GAA gene results in accumalation of lysosomal glycogen in tissues particulary cardiac and skeletal muscles. Pompe disease is a single disease with a wide spectrum of clinical signs which vary in terms of age, rate of disease progression and extent of organ involement. Case report: T.S. Born in May 2007 presented as a floppy infant and was screened and diagnosed with Pompe disease in her 4th month of life. Objective: Is to stress the importance of the nurses role in recognising a child at risk and her role in treating and caring for a child with Pompe disease. Results: She was treated with enzyme replacement therapy from October onwards every 2 weeks resulting in an improvement in her condition until her 13 month. She frequently presented with increasing respiratory problems. Due to respiratory failure and cardiac decompensation she was placed on a respirator in her 15th month of life. Methods: Due to T.S. condition and her dependence on the respirator supportive health profils were engaged including; psychologist, dietary, physical and occupational therapy but the nurse played the central role in health care and coordination amoungst the health providers. Conclusions: Early diagnosis is critical as enzyme therapy is used to replace the missing or deficent enzyme by intravenous route. The nurse should be educated to recognise signs and symptoms of children at risk for a neurologic illness, educated in screening and testing children for metabolic and neurologic illnesses and educated in nursing these children with multiple health demands.
P296 GLUT1 deficiency with paroxysmal gait, movement and behaviour disorder and mild transient epilepsy P.-Y. Jeannet1 *, L. Bonafe´ 2 , E. Roulet-Perez1 . 1 Neuropediatric Unit, CHUV, Lausanne, Switzerland; 2 Molecular Pediatric Division, CHUV, Lausanne, Switzerland Glut1 deficiency syndrome classically presents with the association of epilepsy in infancy or early childhood, micro-
S113 cephaly, developmental delay and a “complex” movement disorder. Other phenotypes have rarely been described with mild epilepsy or isolated movement disorder. We report a 7 yo girl who initially presented with 4 paroxysmal episodes compatible with complex partial seizures between 10 and 18 months with a normal EEG. At age 2 she walked on toes intermittently, her gait was always peculiar and difficult to describe: unsteady, but not wide-based, with marked fluctuations in the day, with sudden extreme fatigue and refusal to walk lasting from minutes to several days. EEG at 30 months showed frequent generalized discharges and we suspected an epileptic gait disorder although no electroclinical correlation could be found. Valproate was started and brought a transient improvement of gait. Mild chorea appeared around 5 yo and later fluctuated in intensity. Behavior was also fluctuating with unexplained mood swings. All symptoms increased with illness or fatigue. OFC always remained on the 3rd percentile., speech was slightly scanned. Total IQ was 74 at age 4, and 81 at age 6. Blood/CSF glucose ratio was 0.45 and a previously unreported c.1223G>T mutation was found in exon 9 of the SLC2A1 gene. Ketogenic diet was introduced at age 7, and after one month the gait, chorea and behavior had already improved. Several video sequences of the gait and movement disorder were taken at various ages. GLUT1 deficiency should be considered in a child presenting with the association of a peculiar, difficult to describe, fluctuating gait, chorea and behavior disturbance even if the epilepsy is not in the forefront. Although similar phenotypes have rarely been described, detailed descriptions of the very unusual and fluctuating symptoms are lacking. P297 The nurse’s role in treating children with a neurometabolic disease L. Coleman-Bozic1 *, T. Tomic1 , R. Samija-Kuzmanic1 , B. Resic1 . 1 Department of Neurology, Paediatric Clinic, University Hospital Split, Split, Croatia Pompe disease is an autosomal recessive genetic disorder caused by a deficiency or dysfunction of the lysomomal hydrolase acid alpha-glucosidase (GAA). Mutations in the GAA gene results in accumalation of lysosomal glycogen in tissues particulary cardiac and skeletal muscles. Pompe disease is a single disease with a wide spectrum of clinical signs which vary in terms of age, rate of disease progression and extent of organ involement. Case report: T.S. Born in May 2007 presented as a floppy infant and was screened and diagnosed with Pompe disease in her 4th month of life. Objective: Is to stress the importance of the nurses role in recognising a child at risk and her role in treating and caring for a child with Pompe disease. Results: She was treated with enzyme replacement therapy from October onwards every 2 weeks resulting in an improvement in her condition until her 13 month. She frequently presented with increasing respiratory problems. Due to respiratory failure and cardiac decompensation she was placed on a respirator in her 15th month of life. Methods: Due to T.S. condition and her dependence on the respirator supportive health profils were engaged including; psychologist, dietary, physical and occupational therapy but the nurse played the central role in health care and coordination amoungst the health providers. Conclusions: Early diagnosis is critical as enzyme therapy is used to replace the missing or deficent enzyme by intravenous route. The nurse should be educated to recognise signs and symptoms of children at risk for a neurologic illness, educated in screening and testing children for metabolic and neurologic illnesses and educated in nursing these children with multiple health demands.