Poster sessions S125

with valproate which led to complete seizure control. At18 months, he started having atypical absence seizures andrecurring myoclonic seizures which required the addition oflamotrigine. Developmental delay as well as ataxia of gaitand slowing of head growth were noted when he was 4 yearsold. A lumbar puncture showed mild hypoglycorrachia anda presumptive diagnosis of GLUT-1 deficiency syndrome wasmade. Ketogenic diet failed to improve the situation.Sequence analysis of the SLC2A1 gene revealed the presenceof a de novo heterozygous missense mutation (c.1199G>T;p.R400L).Conclusions: We report here the first case of BMEI as amanifestation of a SLC2A1 mutation. This report expands thespectrum of the GLUT-1 deficiency syndrome and brings afirst insight in the etiology of BMEI.

P23.6 Congenital myasthenic syndrome with episodicapnea in a female infant caused by two differentcompound heterozygous mutations of theCHAT-gene

A. Sasso1 *, K. Lah-Tomulic1. 1Department of Pediatrics, ClinicalMedical Centre Rijeka, Croatia

Congenital myasthenic syndrome with episodic apnea (CMS-EA) is a presynaptic disorder of neuromuscular junction.The clinical signs of the disease are ptosis, intermittenthypotonia and sudden respiratory insufficiency or apnea.The cause of CMS-EA is recently identified mutation in theCHAT gene. Prolonged stimulation of muscle bundles at 10 Hzresults in abnormal decrease of amplitude of the miniatureend plate potentials (MEPPs). We present a case of a ninemonths old female infant who was admitted in hospitalbecause of sudden apnea during bath. She was intubatedand ventilated. Between crises the baby had ptosis andmild hypotonia. Repetitive stimulation of the face muscle on2Hz stimulation was normal, but after 10Hz stimulation for5 minutes there was a decremental response. Pyridostigminwas included in therapy with good efect on muscle strenght.In our patient CHAT gene on chromosome 10q11.2 encodingthe presynaptic protein Choline O-acetyltransferase wasanalysed. By direct sequencing of the coding regions twocompound heterozygous mutations of the CHAT-gene wereidentified: the mutation S694C in exon 18 (tct>tgt) and themutation T354M in exon 10 (acg>atg). Both mutations aremissense mutations leading to an amino acid exchange. Themutation S694 C has been described in a CMS family recently.The mutation T354M has not been described before. Themother is heterozygous carrier of the mutation S694C, andthe father is heterozygous carrier of the mutationT354M. Theasymptomatic brother does not carry any of the mutation.

P23.7 Phenotype description in seven patients withEngrailed 2 gene (EN2) mutations

F. Carratala1 *, S. Martınez2, P. Andreo-Lillo1, T. Escamez2.1Neuropediatric Unit, University Hospital of San Juan de Alicante,Spain, 2Instituto de Neurociencias de Alicante, Universidad MiguelHernandez, Spain

Background: The ’engrailed’ (en) homeobox gene plays animportant role during development in segmentation, whereit is required for the formation of posterior compartmentsin the CNS. The relationship between autism and EN2 genemutations has been suggested since 2004, but its role remainscontroversial until now, with few specific series describingphenotypes.Aim: We aimed to describe the phenotype of seven patientswith EN2 mutations.Methods: Seventeen patients with neurodevelopmentalproblems were studied by means of DNA and complementary

DNA analysis, for a panel of genes involved in the normalbrain development, EN2 gene among them.Results: Seven out of 70 showed EN2 mutations. There werefive deletions of 223 bases in exon 1 (C1 marker), two of themwere alone and three showed more than one deletion (C5, C8and C9 markers of exon 1). One patient showed a deletion of834 bases (bases 154949474 154950382). Four patients showedmutations in the codifying DNA of the lissencephaly criticalregion. The most important clinical feature was mentalretardation (two mild, two moderate and three severe).Five suffered from epilepsy, and only one was diagnosedof suffering from Kanner nuclear autistic condition. Threepatients showed cortical-subcortical atrophy in their MRI, twohyperintense signals in T2, one a subarachnoid cyst, and onemicroencephaly.Conclusions: Our results showed a weak relationshipbetween autistic like conditions and mutations in the EN2gene.

P23.8 Griscelli syndrome with neuroimagingabnormalities

O. Unver1 *, U. Durak1, S. Uysal1. 1Istanbul UniversityCerrahpasa Medical School, Turkey

Griscelli syndrome is a rare autosomal recessive immunodefi-ciency syndrome characterized by partial albinism, frequentinfections, acute episodes of fever, neutropenia and throm-bocytopenia. The diagnosis is made by the characteristicmicroscopic changes of the hair and genetic analysis inthe presence of silvery grey hair. Uncontolled T-lymphocyteand macrophage activation syndrome (hemophagocyticsyndrome) is a feature of this syndrome. Neurologicalabnormalities range from mild cognitive impairment tofatal degenaration due to cellular infiltration of the brain.Here we present a 6-year-old girl with Griscelli syndromewho was admitted to our clinic with progressive neurologicdeterioration. Her cranial MRI revealed global atrophy anddiffuse white matter involvement.

P23.9 MECP2 duplication as a cause of Lennox-Gastautsyndrome in a boy with mental retardation

M.E. Yoldi-Petri1, S. Aguilera-Albesa1 *, T. Dura-Trave1,N. Lecumberri1. 1Navarra Hospital Complex, Navarra HealthService, 31008 Pamplona, Spain

Background: Lennox-Gastaut syndrome (LGS) is a severeepileptic encephalopathy with a higher prevalence in boyswith mental retardation. Onset is between 1−7 years old.The aetiology is heterogeneous and remains obscure in somecases.Case report: A boy with severe mental retardation andautistic-like features began at 9-yo with refractory seizures.Until then, psychomotor development had progressed slowlybut favourably. He presented with atypical absences, nonconvulsive status, myoclonic, atonic and nocturnal tonicseizures refractory to antiepileptic drugs, iv immunoglobulinsor ketogenic diet. The clinical and EEG features fulfilledcriteria for LGS. Rapid psychomotor deterioration followedthe onset of seizures. He was unable to walk and showed lossof purposeful hand use, as well as feeding difficulties thatrequired gastrostomy. He also developed several pulmonaryinfections after age 13. At 17-yo he continued to have dailyseizures. The following aetiological studies were normal:cerebral MRS, karyotype, FMR1-FMR2, MLPA-subtelomericdeletions, urine, blood and CSF metabolic studies. Thecerebral MRI showed mild vermian atrophy. Xq28 duplicationinvolving MECP2 has been recently demonstrated in thispatient.Discussion: The overexpression of the MECP2 gene causesmental retardation and Rett-like features in boys. In MECP2-mutated patients, prevalence of drug-resistant epilepsy not