Maria Joaquina Marques-Dias

Angelman Syndrome: Difficulties in EEG Pattern Recognition and Possible Misinterpretations

Summary:  Purpose: This study aimed to evaluate the sensitivity of the EEG in Angelman syndrome (AS), to verify the age at onset of suggestive EEGs and to study EEG patterns, analyzing variations and comparing our findings with nomenclature previously used.

Esquistossomose medular: análise de 80 casos

To outline through cinical-laboratorial analysis a profile of schistosomiasis of the spinal cord (SSC) that contributes to the diagnosis and treatment of this disease. 80 patients were studied (59 prospectively), and epidemiological, clinical,laboratorial, treatment and outcome data extracted. In 79 patients the diagnosis was presumptive and obeyed rigorous criteria. There was a predominance of male sex (68.7%), age group from 21 to 40 years (63.7%), Northeasterners (85%), building construction workers (31.2%), previous abdominal effort (57.5%), subacute beginning (61.2%), myeloradiculitis form and lesion in conus and cauda equina (72.5%). Cerebral spinal fluid showed lymphomononuclear pleocytosis and protein increase in 100% of the cases as well as gamma globulin in 76.5%, positiveness of immunofluorescence reaction and/or ELISA for schistosomiasis in 100% of the cases with average titles of 1/16 and 61 u/dl, respectively. Corticosteroids and antischistosomal drugs were given to all patients with a satisfactory outcome in 80% of the cases. We emphasize the importance of a precocious treatment to avoid irreversible deficits such as paraplegia or sexual impotence.

Cockayne syndrome type A: novel mutations in eight typical patients

AbstractCockayne syndrome is a rare autosomal recessive neurodegenerative disorder. It is considered to be a heterogeneous condition based on complementation in cell fusion studies, with two major forms, namely CS-A and CS-B. CKN1 is the gene responsible for CS-A, whose mutations disrupt the transcription-coupled repair system of the actively transcribed DNA. Mutation analysis of the CKN1 gene in eight typical CS-A Brazilian patients from six families showed a gene alteration in all of them. We found a total of five novel mutations that were absent from healthy control subjects. Six affected subjects were simple homozygotes and two affected siblings were each compound heterozygotes. While the findings extend the range of mutations in CS-A, there is no obvious genotype-phenotype correlation across the mutational spectrum.

In search of a genetic basis for the Rett syndrome

SummaryRett syndrome is a progressive encephalopathy restricted to the female sex. In the present paper a possible genetic cause for this syndrome is discussed, based on data from the literature as well as our own. Our results are in agreement with others regarding no increase in parental age, or in spontaneous abortions rate among the mothers of affected children and with a normal sex ratio among sibs. We have found no chromosome rearrangement detectable with the methods used and no correlation between fra(X)(p22) and the Rett syndrome. We have observed an alteration in the sequence of replication in one of the two types of late-replicating X-chromosome present in normal women, and suggest that this may signify that genes which are active in the late-replicating X-chromosome are inactivated (or vice-versa) in these patients. This fact could be related to the abnormal phenotype observed in Rett syndrome patients.

Sequelae from meningococcal meningitis in children: a critical analysis of dexamethasone therapy

OBJECTIVE To evaluate the effectiveness of dexamethasone as an adjunctive therapy to antibiotics in children with meningococcal meningitis. METHOD A total of 81 children diagnosed with meningococcal meningitis hospitalized in sequence were studied at the University Hospital of São Paulo University, with the objective of evaluating the presence of sequelae in four different groups of patients, following the administration of dexamethasone: Group I - 25 patients who received the first dose at least 10 minutes before the introduction of the antibiotic therapy; Group II - 19 patients who received the corticosteroid concomitantly; Group III - 14 patients for which the dexamethasone was administered after beginning the antibiotic scheme; Group IV - 23 patients that did not receive dexamethasone. The groups were evaluated for homogeneity through the prognostic indexes and clinical and laboratory characteristics, based on the records obtained at hospitalization. RESULTS Some degree of sequelae occurred in 16 (26.22%) of the survivors and 23 patients (28.39%) coursed with sequelae or died. The mean period of neurological attendance was 36.97 months and neurological alterations were detected in 16.17% of the patients. No significant difference was found between the four groups. There was also no statistical difference in the comparison of the neurological sequelae in the children from group IV with the children of groups I and II or even with groups I, II and III analyzed as a whole. The presence of hearing loss occurred in 11.11% of the patients, again there was no significant difference between the four groups. Psychological evaluation was performed using the WPSSI and WISC tests. A mild mental disability was detected in one patient from group I and another in group III. The overall analysis of the sequelae (neurological, auditory and intellectual level) also did not demonstrate any significant difference between the four groups. Comparing the children from groups I and II together and also groups I, II and III as a whole with the children in group IV also failed to detect a significant difference arising from the use or nonuse of the corticosteroid. CONCLUSION Dexamethasone was not proven to be effective in decreasing the number of sequelae among patients with meningococcal meningitis.

Angelman syndrome caused by deletion: A genotype—phenotype correlation determined by breakpoint

OBJECTIVES Deletion of the chromosome 15q11-q13, the most common genetic mechanism associated with Angelman syndrome (AS), is highly associated with a severe phenotype. However, deletion is not a genetically homogeneous group as it is composed by two main groups: Class I with breakpoints at BP1 (proximal) and BP3 (distal) and Class II present breakpoints at BP2 (proximal) and BP3 (distal). In this study, we aimed to evaluate the impact of the breakpoint on the electroclinical profile. METHODS We evaluated 16 patients with AS caused by 15q11-13 deletion (6 were Class I; 10 were Class II). We characterized epilepsy features by clinical history obtained from parents and caretakers with a pre-standard questionnaire. These data were corroborated by medical records, contact with previous physicians, and video-EEG monitoring. Suggestive EEG patterns for AS were classified according to the classical description of Boyd et al. (1988). RESULTS AS patients with BP1-BP3 deletion had significantly more daily and disabling seizures than AS patients with BP1-BP2 deletion. They also presented a significant higher frequency of status epilepticus and epilepsy aggravated by fever. Need for polytherapy was significantly more frequent in BP1-BP3 patients. EEG features were similar in both groups. CONCLUSION This study shows a significant correlation between the two deletion classes and AS clinical, but not the electrographic phenotype. Epilepsy is more severe and refractory to treatment in patients with larger deletions. Deletion is not a homogeneous group and knowledge on the breakpoint may have a clinical implication and represent an important factor in parental counseling.

Spinal cord schistosomiasis in children: analysis of seven cases

We describe seven cases of children (ages 2 to 14 years) with myeloradiculopathy caused by infection with S. mansoni. None of them presented hepatosplenic involvement and one presented an intestinal picture. The myeloradicular and pseudotumoral forms were observed in four and three patients, respectively. Comparing the reports in the literature, we found that the pseudotumoral form is more similarly frequent among children than in adults, while the myelitic and myeloradicular forms are the most frequent and distributed across all age groups. Diagnosis is based on clinical and epidemiological findings in association with laboratory tests. The diagnosis was confirmed by the presence of S. mansoni eggs in feces (5 cases) and / or the positivity in specific immunological tests (5 cases) associated with a cerebrospinal fluid inflammatory pattern with presence of eosinophils (between 1 and 24%). Magnetic resonance image, although it does not enable an etiological diagnosis, helped to confirm the form and spinal cord level of the lesion.

Ketogenic diet for the treatment of refractory epilepsy: a 10 year experience in children

A dieta cetogenica (DC) tem alto teor de gordura e baixo de carboidratos e proteinas, sendo usada no tratamento da epilepsia refrataria. Analisamos os efeitos da DC em 54 criancas do Instituto da Crianca da Universidade de Sao Paulo. Eficacia, tolerabilidade e efeitos adversos foram estudados. A DC foi considerada eficaz (E) quando houve reducao de crises >75% e boa (B) quando a reducao foi entre 50-75%. Correlacionamos, quando possivel, esses resultados com a sindrome epileptica e com a idade dos pacientes. Observamos resultados (E) em 57,4%, 63,8%, 71,8% e 62,1% dos pacientes no 2o, 6o, 12o e 24o meses, respectivamente e (B) em 31,4%, 25,5%, 25,6% e 37,9%, respectivamente. Houve reducao significativa das drogas antiepilepticas. A DC foi mais eficaz nas epilepsias generalizadas e nao houve diferencas quanto a idade. Efeitos adversos foram raros. Em conclusao, a DC e um tratamento antiepileptico eficaz em casos refratarios.Ketogenic diet (KD) is a high fat and low carbohydrate diet, which controls refractory epilepsy. We analyzed the KD effects on 54 children of the Childrens Institute of the University of São Paulo. Efficacy, tolerability, and adverse effects were studied. Response to KD was effective (E) if seizure control was >75%, good (G) when 50-75%. When possible, we correlated the results with the epileptic syndrome and patients age. By the second month on diet, 57.4% of the patients had E response and 31.4% G results. At the 6th month, 63.8% had E response and 25.5% G. At the 12th month, 71.8% had E and 25.6% G. At the 24th month, 62.1% had E and 37.9% G. Antiepileptic drugs have been reduced, and generalized epilepsy was the most sensitive. Age-related differences were not observed. Adverse effects were rarely observed. In conclusion, KD proved to be an effective treatment for refractory epilepsy.

Angelman syndrome: Uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns

The authors describe the electroclinical phenotype of four patients with Angelman syndrome (AS) determined by its rarest genetic mechanism-uniparental disomy (UPD). The analysis of ours and published patients showed that in UPD, when epilepsy occurred, it was milder compared to patients with deletion, although a suggestive EEG was observed in most patients. We found that UPD patients do not completely fit the scenario delineated for AS, suggesting that patients determined by different mechanisms should be distinctly addressed, for a better understanding of this syndrome.

Acute hemorrhagic encephalomyelitis in childhood: Case report and literature review.

Acute disseminated encephalomyelitis (ADEM) is an inflammatory immune-mediated disorder which is more common in pediatric patients. The clinical setting is characterized by a rapid onset of encephalopathy and multifocal neurological features. Acute hemorrhagic encephalomyelitis (AHEM) is considered a rare form of ADEM. This report shows a 2-year-old patient who presented with the classical features of ADEM and after 8 weeks developed severe neurological worsening. The second magnetic resonance image (MRI) showed hemorrhagic lesions. Differences in prognosis between ADEM and AHEM justify the investigation of AHEM whenever a patient has neurological recrudescence in a known patient of ADEM.