Rare Diseases and Difficulty Accessing Orphan Drugs: A Topic That Needs Discussion

info:eu-repo/semantics/publishedVersio

Analysis of the EEG Dynamics of Epileptic Activity in Gelastic Seizures Using Decomposition in Independent Components

Objective: Gelastic seizures are a frequent and well established manifestation of the epilepsy associated with hypothalamic hamartomas. The scalp EEG recordings very seldom demonstrate clear spike activity and the information about the ictal epilepsy dynamics is limited. In this work, we try to isolate epileptic rhythms in gelastic seizures and study their generators. Methods: We extracted rhythmic activity from EEG scalp recordings of gelastic seizures using decomposition in independent components (ICA) in three patients, two with hypothalamic hamartomas and one with no hypothalamic lesion. Time analysis of these rhythms and inverse source analysis was done to recover their foci of origin and temporal dynamics. Results: In the two patients with hypothalamic hamartomas consistent ictal delta (2–3 Hz) rhythms were present, with subcortical generators in both and a superficial one in a single patient. The latter pattern was observed in the patient with no hypothalamic hamartoma visible in MRI. The deep generators activated earlier than the superficial ones, suggesting a consistent sub-cortical origin of the rhythmical activity. Conclusions: Our data is compatible with early and brief epileptic generators in deep sub-cortical regions and more superficial ones activating later. Significance: Gelastic seizures express rhythms on scalp EEG compatible with epileptic activity originating in sub-cortical generators and secondarily involving cortical ones

Short-Lasting Headaches in Children

Short-lasting headaches have been studied infrequently in children and it is not known if the main categories of primary headaches of this type in adults are applicable to children. We report our experience with a group of 20 children with a brief headache. Two patients had a secondary headache. One patient had a headache with some clinical characteristics of paroxysmal hemicrania. The remaining 17 had a very brief headache. They were in many aspects comparable to others from previous studies on idiopathic stabbing headache in children: no associated symptoms, no other associated headache, frequent family history of migraine. They differed, however, in the younger age of the patients and themore frequent extratrigeminal location of the pain. Extratrigeminal ice-pick pain may be a variant of idiopathic stabbing headache, more prevalent in young children

Postinfectious Anti-Myelin Oligodendrocyte Glycoprotein Antibody Positive Optic Neuritis and Myelitis

We report the case of a 9-year-old girl admitted with fever, headache, and a cerebrospinal fluid lymphocytic pleocytosis. Polymerase chain reaction was positive for human herpes virus 6. She subsequently developed ataxia and bilateral loss of vision. Magnetic resonance imaging (MRI) showed bilateral optic nerve lesions with extension to optic chiasm and a short-segment myelitis. Serologic studies were positive for Borrelia burgdorferi IgM. Anti-aquaporin 4 antibody was negative and anti-myelin oligodendrocyte glycoprotein antibody (MOG) positive. After intravenous methylprednisolone, ceftriaxone, and intravenous immunoglobulin, her vision slowly recovered. The patient was discharged with only mild visual acuity loss, 1 month after admission. Brain MRI was repeated later and was normal and MOG assay became negative. In our view, this patient suffered from a postinfectious, anti-MOG-mediated, spinal cord and optic nerve demyelination.info:eu-repo/semantics/publishedVersio

Primary Ciliary Dyskinesia and Hydrocephalus With Aqueductal Stenosis

We report 1 female patient with situs inversus, dextrocardia, a complex heart malformation, hydrocephalus due to aqueductal stenosis, and abnormal ultrastructure of the respiratory epithelium cilia. Several animal models of this disorder implicate abnormal ciliary function in the genesis of hydrocephalus, and 11 patients were previously reported with hydrocephalus and the syndrome of primary ciliary dyskinesia. primary ciliary dyskinesia–associated aqueductal stenosis should be considered as a possible cause for fetal or neonatal hydrocephalus if heterotaxy, heart malformations, and/or a probable genetic etiology are present

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

Cefaleias na Criança. Avaliação Clínica

As cefaleias recorrentes são um problema frequente na prática clínica pediátrica. Os autores fazem um estudo prospectivo para avaliação clínica de um grupo de 51 crianças e adolescentes com cefaleias, seguidos numa consulta do Hospital Dona Estefânia. O diagnóstico foi baseado nos critérios da Sociedade Internacional de Cefaleias (IHS). A enxaqueca foi o diagnóstico mais frequente (n=49), sendo o carácter pulsátil e os sintomas gastrointestinais os elementos mais importantes para o diagnóstico. A unilateralidade das cefaleias só se verificou em 28% dos casos. As cefaleias de tensão embora muito menos frequentes que as enxaquecas também surgem na criança, levantando por vezes problemas de diagnóstico diferencial. As cefaleias por frequentemente criarem grande ansiedade aos pais e por puderem ocultar patologia mais grave, obrigam a uma abordagem individualizada de cada caso

Interictal Spike EEG Source Analysis in Hypothalamic Hamartoma Epilepsy

Objective: The epilepsy associated with the hypothalamic hamartomas constitutes a syndrome with peculiar seizures, usually refractory to medical therapy, mild cognitive delay, behavioural problems and multifocal spike activity in the scalp electroencephalogram (EEG). The cortical origin of spikes has been widely assumed but not specifically demonstrated. Methods: We present results of a source analysis of interictal spikes from 4 patients (age 2–25 years) with epilepsy and hypothalamic hamartoma, using EEG scalp recordings (32 electrodes) and realistic boundary element models constructed from volumetric magnetic resonance imaging (MRIs). Multifocal spike activity was the most common finding, distributed mainly over the frontal and temporal lobes. A spike classification based on scalp topography was done and averaging within each class performed to improve the signal to noise ratio. Single moving dipole models were used, as well as the Rap-MUSIC algorithm. Results: All spikes with good signal to noise ratio were best explained by initial deep sources in the neighbourhood of the hamartoma, with late sources located in the cortex. Not a single patient could have his spike activity explained by a combination of cortical sources. Conclusions: Overall, the results demonstrate a consistent origin of spike activity in the subcortical region in the neighbourhood of the hamartoma, with late spread to cortical areas