Vanishing hyperintensity in MRI: Vascular or epileptic origin?

Status Epilepticus and epilepsy-related MRI vanishing changes have been reported in the literature since the 1980s; hypoxia and hypoperfusion have been related to these image modifications. These alterations and their disappearing characteristics can cause trouble among work up and their diagnosis, especially if there is no exact etiology of what is causing seizures. We present a case of a 37-year-old righthanded man with a 6-year history followed up after seizure debut, with no exact etiology at the first event, considering an ischemic event as etiology. After a six-year follow-up seizure-free and no sequels, the patient newly developed aphasia, seizures, and status epilepticus, with a now evident vascular abnormality (cavernous cerebral malformation) etiology in MRI imaging. The cumbersomeness of the clinical picture in its presentation, the seriousness to which it reached, and the complete resolution of the problem with medical treatment make this clinical case especially attractive.

Seizure disorders in pregnancy: an insight beyond eclampsia and epilepsy

Background: Seizures in pregnancy contribute to poor maternal and perinatal outcome. Though eclampsia and epilepsy are common causes of seizures in pregnancy but there are several other conditions apart from eclampsia and epilepsy which give rise to convulsions. Objective of this study was to evaluate fetomaternal outcome in patients with seizure disorders as well as to analyze the other causes of seizures in pregnancy apart from eclampsia and epilepsy.Methods: This prospective study was conducted in Shri. Guru Ram Rai institute of medical and health sciences, Dehradun, India over a period of 39 months from January 2017to March 2020, in all pregnant women with seizure disorders delivered in this hospital. In all cases demographic characteristics, causes of seizure with special attention on noneclamptic, non-epileptic conditions, maternal complications, mode of delivery and fetal outcome were noted.Results: Total 97 cases with seizure disorders were included in the study. Mostly seizures were due to eclampsia and epilepsy in 91.75% cases. Among other causes neurocysticercosis, cerebral malformation, posterior reversible encephalopathy syndrome, brain tumor, and cerebral infarcts contributed to seizures in pregnancy in 8.25%cases. Maternal complications were premature rupture of membranes, gestational diabetes mellitus, hypothyroidism, anaemia, jaundice and abruption observed in37.11% cases. Live birth rate was 76.28%, prematurity was present in 27.83% cases and fetal growth restriction was seen in 7.21% neonates. There were 5 (5.15 %) neonatal deaths.Conclusions: Seizure disorders in pregnancy are associated with significant increase in maternal and fetal risk. Maternal complications, cesarean section rate and neonatal complications are increased. Several other conditions apart from eclampsia, need to be considered in patients without epilepsy presenting with convulsions in pregnancy.

Characterization of Pediatric Seizures in the Commonwealth of the Northern Mariana Islands

Saipan is a United States (US) territory Western Pacific island where little recent data exists regarding epidemiology, clinical presentation, and standard of care for pediatric seizures. This paper characterizes these features in Saipan’s pediatric population with comparisons to mainland US. This is a retrospective chart review of all pediatric patients with a history of seizures at the island’s only hospital and major private neurology clinic over a 10-year period. Variables regarding demographics, presentation, diagnosis, and treatment were collected. A total of 144 patients were included, with 101 patients diagnosed with febrile seizures and 31 patients diagnosed with non-febrile seizures. Age at first presentation peaked at 1 year old overall. The most common identified etiology of epilepsy was found to be hypoxic injury (39%), hemorrhagic injury (10%), cerebral malformation (6%), and brain mass (6%). Simple versus complex classification of febrile seizures, etiologies, and first-line treatment for non-febrile seizures were comparable to the mainland US. Electroencephalogram (EEG) was not used consistently in diagnosis. The findings from this study demonstrate that clinical presentations of pediatric seizures in Saipan are comparable to those in the mainland US.

Precocious puberty and Chiari I malformation with syrinx: a case report of an unusual presentation of Costello syndrome

Background Costello syndrome (CS) is a rare RASopathy causing developmental delays, short stature and classically, delayed puberty. We present a patient with CS and central precocious puberty (CPP). Case presentation A female patient with CS presented at 6 years 10 months of age with breast development. CPP was biochemically confirmed at 7 years 1 month of age, no additional pituitary dysfunction was noted and puberty progressed at follow-up. Brain magnetic resonance imaging (MRI) revealed a Chiari I malformation with a syrinx, requiring surgical decompression. The patient was successfully treated with histrelin. Conclusions Although recent publications do not recommend routine brain MRI in girls with isolated CPP over 6 years of age, in those with CS actionable MRI findings are more likely and imaging should be performed. It is unclear whether the cerebral malformation in the patient contributed to CPP or was an incidental syndromic finding.

Ataxic-hypotonic cerebral palsy in a cerebral palsy registry

ObjectiveTo specifically report on ataxic-hypotonic cerebral palsy (CP) using registry data and to directly compare its features with other CP subtypes.MethodsData on prenatal, perinatal, and neonatal characteristics and gross motor function (Gross Motor Function Classification System [GMFCS]) and comorbidities in 35 children with ataxic-hypotonic CP were extracted from the Canadian Cerebral Palsy Registry and compared with 1,804 patients with other subtypes of CP.ResultsPerinatal adversity was detected significantly more frequently in other subtypes of CP (odds ratio [OR] 4.3, 95% confidence interval [CI] 1.5–11.7). The gestational age at birth was higher in ataxic-hypotonic CP (median 39.0 weeks vs 37.0 weeks, p = 0.027). Children with ataxic-hypotonic CP displayed more intrauterine growth restriction (OR 2.6, 95% CI 1.0–6.8) and congenital malformation (OR 2.4, 95% CI 1.2–4.8). MRI was more likely to be either normal (OR 3.8, 95% CI 1.4–10.5) or to show a cerebral malformation (OR 4.2, 95% CI 1.5–11.9) in ataxic-hypotonic CP. There was no significant difference in terms of GMFCS or the presence of comorbidities, except for more frequent communication impairment in ataxic-hypotonic CP (OR 4.2, 95% CI 1.5–11.6).ConclusionsOur results suggest a predominantly genetic or prenatal etiology for ataxic-hypotonic CP and imply that a diagnosis of ataxic-hypotonic CP does not impart a worse prognosis with respect to comorbidities or functional impairment. This study contributes toward a better understanding of ataxic-hypotonic CP as a distinct nosologic entity within the spectrum of CP with its own pathogenesis, risk factors, clinical profile, and prognosis compared with other CP subtypes.

FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms

Individuals with mutations in forkhead box G1 (FOXG1) belong to a distinct clinical entity, termed “FOXG1-related encephalopathy”. There are two clinical phenotypes/syndromes identified in FOXG1-related encephalopathy, duplications and deletions/intragenic mutations. In children with deletions or intragenic mutations of FOXG1, the recognized clinical features include microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation. In contrast, children with duplications of FOXG1 are typically normocephalic and have normal brain magnetic resonance imaging. They also have different clinical characteristics in terms of epilepsy, movement disorders, and neurodevelopment compared with children with deletions or intragenic mutations. FOXG1 is a transcriptional factor. It is expressed mainly in the telencephalon and plays a pleiotropic role in the development of the brain. It is a key player in development and territorial specification of the anterior brain. In addition, it maintains the expansion of the neural proliferating pool, and also regulates the pace of neocortical neuronogenic progression. It also facilitates cortical layer and corpus callosum formation. Furthermore, it promotes dendrite elongation and maintains neural plasticity, including dendritic arborization and spine densities in mature neurons. In this review, we summarize the clinical features, molecular genetics, and possible pathogenesis of FOXG1-related syndrome.

Siamese twin pregnancy in peritoneal dialysis : first case in the world

Introduction: The probability of conception is low in peritoneal dialysis (PD), and the probability of successful pregnancy is even lower. Nearly 60 years after the first reported case of successful pregnancy in a dialysis patient, many questions about pregnancy during dialysis remain unresolved, namely the required dialysis dose, the follow-up rhythm, the choice of the the most appropriate dialysis technique. Case report: We report the first case worldwide of twin Siamese pregnancy in a patient on continuous ambulatory peritoneal dialysis (CAPD). The pregnancy was diagnosed at 7 weeks of amenorrhea (WA). The patient was initially under 2 exchanges per day, with 2-liter bags of Dianealof 1.36% glucose. As soon as the pregnancy was discovered, the prescription was modified, putting the patient under 3 exchanges a day with the same concentrates. The infusion volume was maintained at 2 liters up to 18 WA , and then reduced to 1.5 liters due to patient discomfort and abdominal hyperpressure. Daily ultrafiltration ranged from 180 to 800 ml with 1 liter diuresis. The blood pressure was well controlled, with an average of 125/80 mmHg, without need of antihypertensive drugs. On a biological level, the Kt / V was 2.2, nPCR was 0.8, and the weekly clearance was 80 L / 1.73 m². The average hemoglobin was 11.5 g / dl under erythropoietin 9000 units per week. At 20 WA, obstetrical ultrasound revealed a mono-chorionic, mono-amniotic twin pregnancy. Due to high maternal and fetal risks, closer obstetrical control was indicated. At 24 WA, morphological obstetrical ultrasound coupled with Doppler examination of the uterine and umbilical arteries favored the diagnosis of mono-amniotic mono-chorionic twin pregnancy with strong suspicion of Siamese contiguous to the pelvis, with a cerebral malformation in one of the fetuses. The patient experienced intense contractions and pelvic pain leading to an emergency cesarean section with two surviving Siamese twins, contiguous to the pelvis, weighing 900g, but who died one day after delivery. Conclusion: Pregnancy during dialysis is at high maternal and fetal risks. It is necessary to prepare and follow this pregnancy to optimize the chances of success. This implies an adaptation of the medical treatment and dialysis prescription, including the volume and modality of exchanges. The same holds true for gynecological and obstetrical follow-up, which must be regular and strict, in order to prevent any maternal-fetal complications.

Abstract WP282: Gender-Dependent Differences in the Cerebrovascular System in Wildtype Mice and Cerebrovascular Lesions in a Mouse Model of Moyamoya Disease

Mutations in ACTA2 predispose to a spectrum of vascular diseases, including Moyamoya-like cerebrovascular disease (MMD). Acta2 -/- mice show straightening of cerebral arteries, narrowing and occlusions characteristic of MMD. They do not show typical MMD collaterals, but exhibit thick bypasses, perfusing ischemic zones. We found a set of altered morphological parameters with females exhibiting the most advanced vascular alterations. Methods: Animals (n=12) at 7 wk age were injected with liposomal blood pool CT contrast agent, average particle size 130 nm, iodine concentration 2.2 mg/g and imaged immediately with μ-CT. Individual scan time was ~50 min. Detailed morphometric analysis of Circle of Willis (CoW) territory was performed. Results: Acta2 +/+ males and females do not show significant differences for morphometric features associated with MMD. Knockout animals Acta2 -/- exhibit several morphometric changes compared to wild type. Acta2 -/- females revealed the greatest severity of cerebral malformation in the narrowing of L-SCA, curvature and mean circularity of L-ITCD and the smallest CoW area. Conclusion: Acta2 -/- animals show straightening of large cerebral arteries and narrowing, characteristic features of MMD, Acta2 -/- females have more prominent malformations compared to males, as in the human patients. Results of this study may help in better understanding the complexity of MMD and shed light on possibilities for new therapy development.