P305 – 2007 A male with mild intellectual disability and hyperckemia

E U R O P E A N J O U R N A L O F P A E D I A T R I C N E U R O L O G Y 1 7 s ( 2 0 1 3 ) S 1 – S 1 4 9 S137

periventricular white matter abnormalities, ventriculomegaly,pontocerebellar hypoplasia and multiple cerebellar cysts. Regard-ing genetic study, one patient (5%) had homozygous POMT1 mu-tation, three patients (15%) had homozygous Fukutin mutationand twelve patients (63%) had homozygous POMGNT1 mutation.In the collagen VI deficiency group, the most common find-ings were developmental motor retardation, contractures, distalhyperlaxicity and respiratory deficiency Conclusion: Congenitalmuscular dystrophy with defective dystroglycan glycosylationand collagen VI deficiency should be kept in mind in cases withcombined eye and brain malformations, developmental motorretardation, contractures and distal hyperlaxicity.

P303 - 1565The pseudo-poliomyelitis of the 21st century

Teoh H, Sampaio H. Sydney Children’s Hospital, Randwick, NSW,Australia – sakesushi@yahoo.com

It has been 12 years since enterovirus 71 haunted the hallwaysof our hospital, with 18 of 200 children affected experiencingneurologic complications. Between Jan 2013 to March 2013, 30children presented with neurologic symptoms and enteroviruspositivity on faeces, throat swab, serum or CSF. 14 out of the 30were genotyped and found to have enterovirus 71. Of the 18 pa-tients who had an MRI scan, two thirds showed an abnormalitywith increased T2 signal intensity in the brainstem +/- spinalcord involvement seen. Symptoms of these patients were variedand included: neurogenic pulmonary oedema with quadriparesis,seizures, myoclonic jerks (almost invariable), monoplegia, unilat-eral cranial nerve 6 palsy, generalised weakness, irritability andneurogenic bladder. Treatment was also variable with 3 needingfull cardio-respiratory support with intravenous immunoglobu-lin (IVIG) and high dose methylprednisolone, 4 receiving IVIGand high dose methylprednisolone, 4 receiving only high dosemethylprednisolone and 4 receiving only IVIG and 15 receiving nospecial treatment. 29 children improved in their clinical course.All patients presenting with limb weakness, although improved,continue to have residual weakness at follow up in the presenceof a normal MRI, regardless of treatment. Follow up is on-going.

P304 - 1516Lambert-Eaton myasthenic syndrome in a 13-year-old girl withXp11.22-p11.23 duplication

Verbeek S, Vanakker O, Mercelis R, Haerynck F, Dullaers M, VanCoster R, Verhelst H. University Hospital Ghent, Belgium –helene.verhelst@ugent.be

Lambert-Eaton myasthenic syndrome (LEMS) is a presynaptic au-toimmune disease of the neuromuscular junction typically seenin adults as a paraneoplastic syndrome. Only rare cases havebeen reported in childhood. In most childhood cases, malignan-cies have not been detected and an underlying propensity toautoimmune disease is suspected. Nevertheless, little is knownabout genetic factors that may contribute to the susceptibilityof an individual to develop LEMS. We report on a 13-year-oldgirl, known with the Xp11.22-p11.23 duplication syndrome, whopresented with severe non-neoplastic LEMS. The potential roleof this microduplication syndrome in development of LEMS isexplored. Literature review of twelve patients with Xp11.2 du-plication syndrome showed that three of them suffered fromvarious autoimmune diseases. The common duplicated regionin those three patients and the presented case comprises 12disease associated genes including the FOXP3 (Forkhead Box P3)gene and the WAS (Wiskott-Aldrich syndrome) gene, both im-plicated in immune function. However, it is unclear whetherincreased gene dosage of one or both genes can cause suscepti-bility to autoimmune diseases. In conclusion, the presented case

emphasizes that autoimmune disease is a recurrent feature ofthe Xp11.2 duplication syndrome, which should be considered inthe follow-up of these patients. The exact mechanism underlyingthis autoimmune propensity remains to be elucidated.

P305 - 2007A male with mild intellectual disability and hyperckemia

López Pisón J, Monge Galindo L, Torres JA, Rodríguez Valle A,García Jiménez MªC, Peña Segura JL. Hospital Universitario MiguelServet, Zaragoza, Spain – jlopezpi@salud.aragon.es

Danon disease is a rare X-linked dominant disorder caused byprimary deficiency of lysosome-associated membrane protein-2(LAMP-2) characterized by cardiomyopathy, myopathy, and vari-able mental retardation. We present a case of a boy and hismother with Danon disease. An 11-year-old boy with mild intel-lectual disability and increase of CK, ranging between 400 and960. X-fragile and Steinert genetic studies normal. His motherunderwent a heart transplant after a postpartum cardiomyopa-thy. Our study protocol of hiperCKemia, without etiologic diagno-sis, required a muscle biopsy, that showed autophagic vacuolarmyopathy and no detectable LAMP-2 in immunohistochemistryanalyses. The genetic study identified a mutation A314GfsX2 inexon 8 of the LAMP2 gene, in the boy and his mother (withnormal CK levels and intelligence). The only sister has no muta-tion. Danon disease is a rare disorder with substantial morbidityand early mortality due to arrhythmia and cardiomyopathy. Malepatients usually suffer severe cardiomyopathy, mild myopathyand mental retardation. Men have a high morbidity rate and areunlikely to reach the age of 25 years without a cardiac trans-plantation. Women are less severely affected but have higherthan expected levels of cognitive and skeletal muscle complaintsand manifest an equal prevalence of dilated cardiomyopathy andhypertrophic cardiomyopathy. We highlight the importance ofstudying hyperCKemia, the need for cardiac surveillance in dif-ferent muscle diseases and the importance of concern for muscledisease in families with cardiomyopathy, due to the implicationsof diagnosis, management, prognosis and genetic advice.

P306 - 9999A positive Gowers sign mimicking a primairy neuromusculardisorder for 17 years.

de Rijk-van Andel JF, de Coo IFM, van der Laar I. Erasmus MedicalCenter, Rotterdam, the Netherlands

Niels was born in september 1989 after a normal pregnancy anddelivery from Dutch non-consanguineous parents. His two oldersisters are healthy. In his family there are no neuromusculardiseases. His development was normal until the age of 3 years,when he developed walkingproblems and a positive Gowers sign.An intensive neuromuscular work-up in three academic centreswith muscle biopsy and DNA analysis followed, but did notshow any specific disorder. Symptoms suggested a SMA typeIII, but no deletion was ever found in the DNA analysis. Atthe age of 20 years he complained of pain in his leggs. Onexamination the circumference of the upper leggs were the sameas the circumference of the lower leggs. Then an X-ray of thebone showed bone dysplasia. Finally, the diagnosis Camurati-Engelmann (CED) was confirmed by the clinical genetics. Thereis a c.652C>T mutation in the TGFB1-gene. This is he codinggene for the transforming growthfactor TGFb1. In the symptomsof CED muscle weakness is described in about 1/3 of the patientsdue to a high TGFb1 activity which inhibits muscle and fatdevelopment. The biggest challenge of the moment is the paintreatment.