P18.7 Pelizaeus-Merzbacher disease in a female infant

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P18.7 Pelizaeus-Merzbacher disease in a female infant
  S106 Poster sessions caused by a deficiency of fatty aldehyde dehydrogenase(FALDH). The diagnosis is based on the clinical triad,combined with FALDH enzyme and mutation analysis. Aim of the study:  To describe the atypical clinical andneuroimaging features of SLS and the utility of magneticresonance spectroscopy (MRS) in characterising the disease. Case report:  A 9-yo girl progressively developed spasticparaplegia starting at age 2. She was born of consanguineousparents without perinatal incidents. She also presenteda pruriginous icthyosis from birth. There were no ocularor auditive abnormalities. She had only mild learning difficulties. Cerebral MRI revealed a normal white mattersignal but MRS revealed the characteristic lipid signals inthe white matter tissue: one narrow peak at 1.3 ppm andanother wider at 0.9 ppm in short eco time; with long ecotime, the peak at 1.3 ppm still persisted. Choline, creatineand N-acetyl aspartate levels in MRS were normal. FALDHenzyme mutation was identified. Discussion:  SLS patients usually manifest parieto-occipital orfrontal leucoencephalopathy. In atypical cases without thefull clinical features and a normal white matter appearanceon MRI, MRS may be useful for diagnosis and early geneticcounselling. While the abnormal lipid sign in MRS may bepresent in other neurodegenerative processes, lipid peaks insuch cases are wider, less pronounced, and may be seen onlyon short eco time. P18.6 Neurodegeneration with brain iron accumulation dueto PANK2 mutation in a young child R. Biancheri 1 *, D. Rossi 1 , E. De Grandis 1 , C. Barzaghi 2 ,M. Mascaretti 1 , B. Garavaglia 2 , E. Zanotto 1 , G. Morana 3 .  1 ChildNeurology and Psychiatry Unit IRCCS G. Gaslini Institute, Genova,Italy,  2 UO Neurogenetica Molecolare, IRCCS Istituto Neurologico“C. Besta”, Milano, Italy,  3 Pediatric Neuroradiology Unit, G. GasliniInstitute, Genova, Italy Background:  Pantothenate kinase-associated neurodegener-ation (PKAN) is a form of neurodegeneration with brainiron accumulation characterized by progressive dystoniaand basal ganglia iron deposition, caused by mutations inthe gene encoding the mitochondrial pantothenate kinase(PANK2). Brain MRI typically shows the “eye-of-the-tiger”(bilateralpallidalT2-hypointensitywithasmallcentralregionof T2-hyperintensity). Aim of the study:  To describe the clinical and neuroradiolog-ical findings in a young child. Methods:  Neurological examination, neuroimaging studiesand molecular analysis have been performed. Results:  The boy was referred to us for developmental delayand toe-walking at 2 years and 10 months. Neurological ex-amination showed normal muscle tone, pseudohypertrophiclegmuscles,brisktendonreflexes,extensorplantarresponsesand toe-walking. Brain MRI showed bilateral and symmetricareas of T2 hyperintensity within both globi pallidi andMR spectroscopy showed a slight lactate peak. Laboratoryand neurophysiological investigations were normal. Oneyear later, the clinical picture was roughly unchanged.However,T2*-weighted gradient echo images disclosed smallrounded areas of markedly low signal within the globi pallidi,representing iron deposits. Thus, molecular analysis of thePANK2 gene was performed, depicting a homozygous G156IA(G521R) mutation in the exon 6 of the gene. Conclusion:  In young children, suspicion of PKAN shouldarise also before the clinical and neuroradiological pictureis fully indicative of the disorder to avoid delayed ormissed diagnosis of a genetic disease for which therapeuticaloptions could be potentially useful if administered inpaucisymptomatic subjects. P18.7 Pelizaeus-Merzbacher disease in a female infant  C. Kotsogianni 1 , E. Konstantelou 1 , G. Vartzelis 2 *.  1  AthensMedical Achool, University of Athens, Greece,  2  Aglaia KyriakouPaediatric Teaching Hosp. Athens, Greece Background:  Pelizaeus Merzbacher Disease (PMD) is a raredisease of the Central Nervous System (CNS) white matter. Itis caused by reduced myelin synthesis resulting to significantCNS hypomelination. The most common genetic defect isduplication of the PLP1 gene located in the long arm of chromosome X (Xq21−22). The disease is therefore usuallyinherited in an X-linked recessive manner and the vastmajority of patients are males.We report on a female patientwith genetically confirmed PMD. Aim of the study:  Aim of the study is to increase theawareness of PMD occurring to females. Methods:  Retrospective review of the clinical notes of apatient with typical findings of PMD.The patient was born atterm after an uneventful pregnancy. Soon after birth she wasdiagnosed with significant hypotonia and nystagmus. Mag-netic resonance imaging of the brain at the age of 9 monthsshowed significant delay of myelination. Subsequent genetictesting was positive for PLP1 duplication. Conclusion:  Although usually inherited in an X-linkedrecessive manner, PMD can also occur in female patients.Physicians should be aware of this fact and test femalepatients with typical clinical findings of PMD. P18.8 Neurodegenerations as etiologic factors for statusepilepticus in infancy and early childhood A. Kholin 1,2 *, S. Mikhaylova 2 , E. Il’ina 2 , I. Fedonyuk 2 ,R. Bembeeva 1 , A. Petrukhin 1 , K. Mukhin 1 , N. Zavadenko 1 . 1 Russian State Medical University, Moscow, Russian Federation, 2 Russian Children’s Clinical Hospital, Moscow, Russian Federation Introduction:  Status epilepticus (SE) in infancy and earlychildhood is not a rare, but sometimes poorly diagnoseddisorder. SE in neurodegenerations is characterized by poorprognosis and high risk of aggravation by AEDs. Methods:  267 children were investigated with SE onset beforethree years of age in the Child Neurology Department of Russian Children’s Clinical Hospital in the period 2000 2010. Results:  Due to genetic assessment of this group of patientsneurodegenerative disorders were diagnosed in 15.7% of cases (n=42). Cases of SE of serial tonic spasms andminor motor seizures were caused by the biotinidasedeficiency (n=9), Menkes disease (n=2), histidinemia (n=1),methylmalonic acidemia (n=1) and GM-1 gangliosidosis typeI (n=1). Myoclonic type of SE was caused by neuronalceroid lipofuscinosis type II (n=7), Alpers-Huttenlochersyndrome (n=5), GM-2 gangliosidosis type II or Sandhoff disease (n=3), neuronal ceroid lipofuscinosis type I (n=2),GM-1 gangliosidosis type II (n=1), glicogenosis type III(n=1), Krabbe disease (n=1), metachromatic leukodystrophy(n=1), Canavan disease (n=1), Zellweger syndrome (n=1).Hemiconvulsive SE was observed in MELAS syndrome (n=3).Children with Alpers-Huttenlocher syndrome (n=5) alsodeveloped SE of epilepsia partialis continua. One patient withTay-Sachs disease developed migrating SE of alternative tonicand hemiconvulsive, versive and pharyngo-oral, hemifacialand inhibitory components. A familial case of Kreutzfeld- Jakob disease was identified (Met129Val mutation in PRNP)with early onset of spongious encephalopathy and series of tonic spasms and spike-wave stupor. Conclusions:  Genetic assessment is recommended in cases of SE in infancy or early childhood. Neurodegenerative diseasescontributed 15.7% in the SE etiology and were associatedwith poor prognosis for psychomotor development and lifeexpectancy. Early diagnosis of biotinidase deficiency is crucialfor favorable prognosis.
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