Pilosidade Púbica na Criança e Hiperplasia Congénita Supra-Renal Não Clássica

Antes dos 8 anos de idade no sexo feminino e dos 9 no masculino, o aparecimento de pelos púbicos, pode ser a primeira manifestação de doença das gónadas ou das supra-renais. Para reconhecimento da Hiperplasia congénita supra-renal de início tardio, em situações de Pubarca prematura, realizámos a Prova curta de estimulação da supra-renal com Synacthen, em trinta crianças. Cinco meninas e um rapaz revelaram um défice de 21-hidroxilase, demonstrado pelo valores da 17-OH Progesterona sérica aos 60 minutos;28,8 +_ 15,2ng/ml, sendo num grupo de controle 2,30 ng/ml (p<0,01). A incidência de 20% encontrada, justifica a realização desta prova em todas as Pubarcas prematuras.

Familial Amyloidotic Polineuropathy and Systemic Lupus

Familial amyloidotic polineuropathy is a genetic disorder, leading to systemic amyloid deposits, manifested as sensory-motor and autonomic neuropathy. In the Portuguese classical form, the disease is evident at a young age, and causes death if no specific treatment is received. Variability in penetrance, age of onset and clinical course has been published; environmental and genetic factors are believed to contribute to this variability. The authors report a case of a 51-year-old white female, with a medical history of acquired angioedema, late-onset familial amyloidotic polineuropathy and systemic lupus erythemathosus. The authors consider that these associated diseases could modulate their expression.

GM1 Gangliosidosis, Late Infantile Onset Dystonia, and T2 Hypointensity in the Globus Pallidus and Substantia Nigra

BACKGROUND: GM1 gangliosidosis is a rare disease due to mutations in the GLB1 gene and autosomal recessive deficiency of b-galactosidase. There is considerable overlap between classical phenotypes and clinical and imaging findings, which are often difficult to interpret. PATIENT: The patient in this study had dysmorphism, dysostosis, progressive dystonia, and T2 hypointensity in the basal ganglia. Partially similar clinical and radiologic findings were described previously in two reports. CONCLUSIONS: T2 hypointensity in the globus pallidus should, in the appropriate clinical setting, lead to consideration of thediagnosis of GM1 gangliosidosis.

Late Stillbirth: a Ten Year Cohort Study

Introduction: Late fetal death is a desolating event that inspite the effort to implement new surveillance protocols in perinatal continues to defy our clinical pratice. Objective: To examine etiological factors contributing to main causes and conditions associated with fetal death in late pregnancies over a 10-year period. Methods: Retrospective cohort analysis of 208 late singleton stillbirth delived in a tertiary-perinatal referral maternity over a 10-year period. Clinical charts, laboratory data and feto-placental pathology findings were systematically reviewed. Results: The incidence of late fetal demise was 3.5 per 1000 pregnancies. No significant trend in the incidence of stillbirth was demonstrated during the study period. Stillbirth was intrapartum in 12 (5.8%) cases and 72 (35%) were term pregnancies. Fourteen percent of cases were undersurveilled pregnancies. Mean gestacional age at diagnosis was 34 weeks. The primary cause of death was fetal, it was present in 59 cases, 25% were considered small for gestational age. Stillbirths were unexplained in 24.5% of cases. Maternal medical disorders were identified in 21%. Hypertensive disorders were frequent and associated with early gestacional age (p = 0.028). Conclusion: There was no change in the incidence of late stillbirth during the 10 years under evaluation. The incidence was 3.5 ‰ which was identical to that described in developed countries. About one quarter of the stillbirths was unexplained. The most frequent maternal pathology was chronic hypertension.

Sulfite Oxidase Deficiency – An Unusual Late and Mild Presentation

Introduction: Sulfite oxidase deficiency (SOD) is an autosomal recessive inherited disease usually presenting in the neonatal period with severe neurological symptoms including seizures, often refractory to anticonvulsant therapy, and a rapidly progressive encephalopathy resembling neonatal hypoxic ischemia, with premature death. Most patients develop dislocated ocular lenses. Later or milder presentations of SOD are being reported with increasing frequency. These presentations include neurological regression with loss of previously acquired milestones or movement disorders. Case report: We report a four years old girl presenting with intermittent ataxia and uncoordinated limb movements. A similar episode of ataxia had occurred previously, one year before, with complete neurologic recovery and normal developmental milestones. Bilateral lens dislocation had been recently diagnosed. Cranial MRI demonstrated bilateral globus pallidus enhancement. Low homocysteine was found in plasma and SulfitestR was positive. Further investigations led to confirmation of isolated sulfite oxidase deficiency with no enzyme activity detected on skin fibroblasts culture. Discussion: This case illustrates the clinical variability of SOD and it is not only atypical but also seems to be the mildest form described so far. The association of ectopia lentis with a movement disorder, even without psychomotor regression, should prompt us to look for this diagnosis.

Analysis of the Generators of Epileptic Activity in Early-Onset Childhood Benign Occipital Lobe Epilepsy

Objective: The Panayiotopoulos type of idiopathic occipital epilepsy has peculiar and easily recognizable ictal symptoms, which are associated with complex and variable spike activity over the posterior scalp areas. These characteristics of spikes have prevented localization of the particular brain regions originating clinical manifestations. We studied spike activity in this epilepsy to determine their brain generators. Methods: The EEG of 5 patients (ages 7–9) was recorded, spikes were submitted to blind decomposition in independent components (ICs) and those to source analysis (sLORETA), revealing the spike generators. Coherence analysis evaluated the dynamics of the components. Results: Several ICs were recovered for posterior spikes in contrast to central spikes which originated a single one. Coherence analysis supports a model with epileptic activity originating near lateral occipital area and spreading to cortical temporal or parietal areas. Conclusions: Posterior spikes demonstrate rapid spread of epileptic activity to nearby lobes, starting in the lateral occipital area. In contrast, central spikes remain localized in the rolandic fissure. Significance: Rapid spread of posterior epileptic activity in the Panayitopoulos type of occipital lobe epilepsy is responsible for the variable and poorly localized spike EEG. The lateral occipital cortex is the primary generator of the epileptic activity.

Origin of Frontal Lobe Spikes in the Early Onset Benign Occipital Lobe Epilepsy (Panayiotopoulos Syndrome)

Objective: Early onset benign occipital lobe epilepsy (Panayiotopoulos syndrome [PS]) is a common and easily recognizable epilepsy. Interictal EEG spike activity is often multifocal but most frequently localized in the occipital lobes. The origin and clinical significance of the extra-occipital spikes remain poorly understood. Methods: Three patients with the PS and interictal EEG spikes with frontal lobe topography were studied using high-resolution EEG. Independent component analysis (ICA) was used to decompose the spikes in components with distinct temporal dynamics. The components were mapped in the scalp with a spline-laplacian algorithm. Results: The change in scalp potential topography from spike onset to peak, suggests the contribution of several intracranial generators, with different kinetics of activation and significant overlap. ICA was able to separate the major contributors to frontal spikes and consistently revealed an early activating group of components over the occipital areas in all the patients. The local origin of these early potentials was established by the spline-laplacian montage. Conclusions: Frontal spikes in PS are consistently associated with early and unilateral occipital lobe activation, suggesting a posteroanterior spike propagation. Significance: Frontal spikes in the PS represent a secondary activation triggered by occipital interictal discharges and do not represent an independent focus.

Early Sac Shrinkage Predicts a Low Risk of Late Complications After Endovascular Aortic Aneurysm Repair

BACKGROUND: Aneurysm shrinkage has been proposed as a marker of successful endovascular aneurysm repair (EVAR). Patients with early postoperative shrinkage may experience fewer subsequent complications, and consequently require less intensive surveillance. METHODS: Patients undergoing EVAR from 2000 to 2011 at three vascular centres (in 2 countries), who had two imaging examinations (postoperative and after 6-18 months), were included. Maximum diameter, complications and secondary interventions during follow-up were registered. Patients were categorized according to early sac dynamics. The primary endpoint was freedom from late complications. Secondary endpoints were freedom from secondary intervention, postimplant rupture and direct (type I/III) endoleaks. RESULTS: Some 597 EVARs (71.1 per cent of all EVARs) were included. No shrinkage was observed in 284 patients (47.6 per cent), moderate shrinkage (5-9 mm) in 142 (23.8 per cent) and major shrinkage (at least 10 mm) in 171 patients (28.6 per cent). Four years after the index imaging, the rate of freedom from complications was 84.3 (95 per cent confidence interval 78.7 to 89.8), 88.1 (80.6 to 95.5) and 94.4 (90.1 to 98.7) per cent respectively. No shrinkage was an independent risk factor for late complications compared with major shrinkage (hazard ratio (HR) 3.11; P < 0.001). Moderate compared with major shrinkage (HR 2.10; P = 0.022), early postoperative complications (HR 3.34; P < 0.001) and increasing abdominal aortic aneurysm baseline diameter (HR 1.02; P = 0.001) were also risk factors for late complications. Freedom from secondary interventions and direct endoleaks was greater for patients with major sac shrinkage. CONCLUSION: Early change in aneurysm sac diameter is a strong predictor of late complications after EVAR. Patients with major sac shrinkage have a very low risk of complications for up to 5 years. This parameter may be used to tailor postoperative surveillance.

A Case of Late-Diagnosed Ovotesticular Disorder of Sex Development

We report acase of!ovotesticular disorder of sex development!(DSD) with ambiguous genitalia, 46XX presenting the clinical, laboratory, imaging and operative findings and highlighting the pertinent features of this case. Results of hormonal, genetic testing and histopathology findings are reviewed. Diagnosis of true hermaphroditism is well defined and the condition can be recognized even prenatally. Conservative gonadal surgery is the procedure of choice after the diagnosis of true hermaphroditism, if the risk of a gonadal malignancy is low. Continued follow-up is necessary because of the multiple psychological, gynecological and urological problems encountered postpubertally by these patients.

Time to Left Ventricular Reverse Remodeling after Cardiac Resynchronization Therapy: Better Late than Never

INTRODUCTION: Left ventricular reverse remodeling (LVRR), defined as reduction of end-diastolic and end-systolic dimensions and improvement of ejection fraction, is associated with the prognostic implications of cardiac resynchronization therapy (CRT). The time course of LVRR remains poorly characterized. Nevertheless, it has been suggested that it occurs ≤6 months after CRT. OBJECTIVE: To characterize the long-term echocardiographic and clinical evolution of patients with LVRR occurring >6 months after CRT and to identify predictors of a delayed LVRR response. METHODS: A total of 127 consecutive patients after successful CRT implantation were divided into three groups according to LVRR response: Group A, 19 patients (15%) with LVRR after >6 months (late LVRR); Group B, 58 patients (46%) with LVRR before 6 months (early LVRR); and Group C, 50 patients (39%) without LVRR during follow-up (no LVRR). RESULTS: The late LVRR group was older, more often had ischemic etiology and fewer patients were in NYHA class ≤II. Overall, group A presented LVRR between group B and C. This was also the case with the percentage of clinical response (68.4% vs. 94.8% vs. 38.3%, respectively, p<0.001), and hospital readmissions due to decompensated heart failure (31.6% vs. 12.1% vs. 57.1%, respectively, p<0.001). Ischemic etiology (OR 0.044; p=0.013) and NYHA functional class late LVRR. CONCLUSIONS: Late LVRR has better clinical and echocardiographic outcomes than no LVRR, although with a suboptimal response compared to the early LVRR population. Ischemic etiology and NYHA functional class late LVRR.