Brazilian Registry of Clinical Trials, www.ensaiosclinicos.gov.br, RBR-8qj4p5.

OBJECTIVE: To characterize neurological involvement in juvenile systemic lupus erythe-matosus. METHOD: The charts of all patients with the diagnosis of systemic lupus erythematosus before the age of 16 years, followed at the Rheumatology Unit of Pequeno Príncipe Hospital, from January 1992 to January 2006, were retrospectively reviewed, highlighting neuropsychiatric aspects. RESULTS: Forty-seven patients were included. Neuropsychiatric syndromes were found 29 (61.7%): seizures (17 / 36.2%), intractable headache (7 / 14.9%), mood disorders (5 / 10.6%), cerebrovascular disease (4 / 8.5%), acute confusional state (3 / 6.4%), aseptic meningitis (3 / 6.4%), psychosis (3 / 6.4%), chorea (3 / 6.4%), Guillain-Barré syndrome (2 / 4.3%) and cranial neuropathy (1 / 2.1%). Morbidity indexes (SLEDAI and SLICC) were higher among patients with neuropsychiatric manifestations (p<0.05). CONCLUSION: Neuropsychiatric syndromes are frequent, and add significant morbidity to juvenile systemic lupus erythematosus.

-Introduction: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients p resent with lissencephaly, agenesis of the corpus callosum, re f r a c t o ry epilepsy of neonatal onset, acquire d m i c rocephaly and male genotype with ambiguous genitalia. Case re p o rt: Second child born to healthy nonconsanguineous parents, presented with seizures within the first hour of life that remained refractory to phenobarbital, phenytoin and midazolam. Examination identified micro c e p h a l y, axial hypotonia, pyramidal signs and ambiguous genitalia. EEG showed disorganized background activity and seizures starting at the right midtemporal, central and occipital regions. MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum. K a ryotype showed a 46,XY genotype. Additional findings were hypercalciuria, vesicoureteral reflux, patent ductus arteriosus and chronic diarrhea.KEY WORDS: corpus callosum, ambiguous genitalia, epilepsy, ARX gene.Lisencefalia, genitália ambígua e epilepsia refratária: relato de caso da síndrome XLAG RESUMO -I n t rodução: Lisencefalia com genitália ambígua ligada ao X (XLAG) é doença genética re c e n t emente descrita, causada por mutação no genea r i s t a l e s s -related homeobox (ARX) (Xp22.13). Os pacientes a p resentam lisencefalia, agenesia de corpo caloso, epilepsia refratária com início no período neonatal, m i c rocefalia adquirida e genótipo masculino com genitália ambígua. Relato de caso: Segundo filho de pais não-consangüíneos, apresentou crises na primeira hora de vida que permaneceram refratárias a fenobarbital, fenitoína e midazolam. Apresentava microcefalia, hipotonia axial, sinais de liberação piramidal e genitália ambígua. EEG demonstrou atividade de base desorganizada, crises convulsivas com início nas regiões temporal-média, central e occipital direitas. RNM demonstrou paquigiria difusa, moderado espessamento do córtex, ventrículos aumentados, agenesia de corpo caloso e septo pelúcido. Cariótipo evidenciou genótipo 46,XY. Achados adicionais foram: hipercalciúria, refluxo vésico-ureteral, ducto arterioso persistente e diarréia crônica.

Our data show that the DHD favored a 0.5 SDS height gain in a third of patients without GH treatment. Dialysis intensification was not a cause for treatment dropouts, and DHD should be considered as a treatment for selected cases, especially small children.

Pneumococcal vaccination has been recommended for immunocompromised children, including patients with chronic kidney disease. We determined pneumococcal immunoglobulin (Ig)G antibodies to serotypes 4, 6B, 9V, 14, 18C, 19F, and 23F before and after 48 pediatric patients with chronic renal failure were administered heptavalent conjugated pneumococcal vaccine. The patients were between 1 and 9 years of age and were separated into a conservative treatment group (Group 1) and a dialysis group (Group 2). The antibody response to the vaccinal serotypes was evaluated by measuring antibody concentrations before the first dose and 60 days after the second one. Pre-vaccinal IgG concentrations > or = 0.35 microg/ml were detected for all serotypes in at least 50% of the patients in both groups. Patients from both groups showed a statistically indistinguishable behavior in terms of the medians of post-vaccination IgG levels. An "adequate" vaccine response was defined as a post-immunization level of specific pneumococcal serotype antibody > or = 0.35 microg/ml, based on the World Health Organization's (WHO) protective antibody concentration definition for pneumococcal conjugate vaccines, or on a fourfold increase over baseline for at least five of the seven antigens of the vaccine. An "adequate" vaccinal response was obtained in 100% of the patients of both groups using WHO's definition, or in 45.8% of Group 1 patients and 37.5% of Group 2 patients when the criterion was a fourfold antibody increase over baseline antibody concentrations.

-Introduction: septo-optic dysplasia (De Morsier syndrome) is defined as the association between optic nerve hypoplasia, midline central nervous system malformations and pituitary dysfunction. Case re�� port: third child born to nonconsanguineous parents, female, adequate pre-natal medical care, cesarean term delivery due to breech presentation, Apgar score 3 at the first minute and 8 at 5 minutes, symptomatic hypoglycemia at 18 hours. Neurological follow-up identified a delay in acquisition of motor and language developmental milestones. Epileptic generalized seizures began at 12 months and were controlled with phenobarbital. EEG was normal. MrI revealed agenesis of the pituitary stalk, hypoplasia of the optic chiasm and periventricular nodular heterotopia. Ophthalmologic evaluation showed bilateral optic disk hypoplasia. Endocrine function laboratory tests revealed primary hypothyroidism and hyperprolactinemia. Con�� clusion: the relevance of this case report relies on its uniqueness, since periventricular heterotopia had not been described in association with septo-optic dysplasia until 2006.KEy wOrDs: De Morsier syndrome, septo-optic dysplasia, periventricular nodular heterotopia, primary hypothyroidism.síndrome de De Morsier associada a heterotopia nodular periventricular: relato de caso rEsuMO -Introdução: Displasia septo-óptica (síndrome de De Morsier) é definida como a associação entre hipoplasia do nervo óptico, malformações de linha média do sistema nervoso central e disfunção pituitária. Relato de caso: terceiro filho, pais não consangüíneos, sexo feminino, pré-natal adequado, parto cesário a termo por apresentação pélvica, Apgar 3 no primeiro minuto e 8 no quinto minuto, hipoglicemia sintomática com 18 horas de vida. Durante o acompanhamento neurológico identificou-se atraso na aquisição dos marcos de desenvolvimento motor e linguagem. Crises epilépticas generalizadas iniciaram com 12 meses de vida sendo controladas com fenobarbital. EEG era normal. ressonância magnéti-ca revelou agenesia de haste pituitária, hipoplasia de quiasma óptico e heterotopia nodular periventricular. Avaliação oftalmológica demonstrou hipoplasia bilateral de disco óptico. Investigação da função endócrina revelou hipotireoidismo primário e hiperprolactinemia. Conclusão: A relevância deste relato reside em seu ineditismo, já que heterotopia periventricular não havia sido descrita em associação com displasia septo-óptica até 2006.PAlAvrAs-ChAvE: síndrome de De Morsier, displasia septo-óptica, heterotopia nodular periventricular, hipotireoidismo primário.unidade de Neurologia Infantil Pequeno Príncipe, Curitiba Pr, brasil (uNIPP):

SHU atypical (aHUS), that is, not associated with Escherichia coli Shiga toxinproducing, is seen in 5 to 10% of cases of Hemolytic Uremic Syndrome (HUS), and can occur at any age and may be sporadic or familial. The prognosis in these cases is reserved, with high mortality and morbidity in the acute phase of the disease, and about 50% of cases can develop chronic kidney disease. The increased knowledge of the pathogenesis of aHUS (overactivation of the alternative pathway of complement), was accompanied by the appearance of a drug, eculizumab, which acts as an inhibitor of membrane attack complex. Our goal is to report a case of infant with aHUS with excellent clinical and laboratory response with the use of eculizumab. 14 month old infant, previously healthy, male, presented anemia and thrombocytopenia at 12 months of age. He was treated with corticosteroids and forwarded to our service for high blood pressure. However, the scans showed nephrotic proteinuria with renal involvement and hypoalbuminemia with direct Coombs negative. He developed anemia, thrombocytopenia, worsening of renal function and hypertension. Renal biopsy showed thrombotic microangiopathy (TMA). On the non-hemolytic anemia, thrombocytopenia and acute renal failure with histological substrate MAT, was diagnosed of aHUS. The patient received eculizumab excellent clinical and laboratory response. This case shows the importance of early diagnosis and treatment of the aHUS. Eculizumab is effective and keeps long-term remission, avoiding invasive measures such as plasmapheresis, which resolves only part of the picture.

OBJECTIVE: To evaluate classification, EEG tracings and neuroimage following the first episode of unprovoked epileptic seizure in a pediatric population. METHODS: Patients diagnosed with first episode of unprovoked epileptic seizure from May 2000 to May 2005 were included. All subjects were submitted to EEG and cranial CT in the first 72 hours after the event. Seizures were classified according to the ILAE classification criteria of 1981. RESULTS: 387 patients, 214 (55.3%) male, average age 4.2 years. Neuropsicomotor development was normal in 315 (81.4%) patients. Seizure classification: 167 (43.15%) generalized, tonic-clonic being the most frequent of these (105/62.85%), followed by typical absence (22/13.17%), clonic (20/11.98%), tonic (13/7.78%) and atonic (7/4.19%). Focal seizures: 220 (56.85%), complex partial with secondary generalization as the most common of these (81/36.82%). EEG was normal in 208 (53.75%) cases. Brain atrophy was the most frequent abnormality on cranial CT. DISCUSSION: The majority of the children had normal neurodevelopment after a first unprovoked epileptic seizure. Partial seizures were more frequent than generalized seizures. Early EEG identifies interictal paroxysms or focal slowing in virtually half the patients.