There are between 5,000 and 8,000 distinct rare diseases (RDs) affecting 6-8% of the population, most of which are caused by genetic defects. Many are highly complex, childhood-onset, multi-system disorders that are often associated with developmental disability, and require lifelong, highly specialized care and support. As larger numbers of children with previously fatal RDs survive into adulthood, they encounter significant challenges in transitioning from family-centered, developmentally focused, multidisciplinary pediatric care to a less supportive adult healthcare system that is often unfamiliar with these conditions. This paper discusses the challenges of the transition from pediatric to adult health care in two groups of patients with multisystem genetic RDs (neurofibromatosis 1 [NF1] and Williams-Beuren syndrome [WBS]), and analyzes strategies for making the process easier for patients with and without developmental disabilities. Our findings show that there are still no guidelines in national healthcare programs on how to transition RD adolescents with and without developmental disabilities, and only a few pediatric centers have implemented the elements of transition in their general practice. Evidence regarding programs to facilitate transition is inconclusive and the transition from pediatric medicine to adult medicine for RDs remains a major challenge. However, transition requires both time and personnel, which are difficult to find in periods of fiscal austerity. Nevertheless, we should strongly advocate for governments investing more into transition infrastructure or they will face increased long-term social and economic costs due to poor treatment compliance, disengagement from services, increased genetic risks, and higher rates of disease-related complications.
Compared to the 1989 ILAE classification, which allowed a syndromic diagnosis in only 6/94 patients, the remaining being classified as Epilepsies and Syndromes undetermined whether focal or generalized, the 2001 ILAE diagnostic scheme, applied at the end of the neonatal period, offers a variety of approaches to classification, allowing an early distinction between epilepsy and single or isolated clusters of seizures, with therapeutic and prognostic implications.
A 9-year-old girl was admitted with headache, photophobia, diplopia and vomiting 12 days after the onset of infectious mononucleosis (IM). She was afebrile. Neurological examination revealed nuchal rigidity, cerebellar ataxia with bilateral dysmetria, paresis of the VI right cranial nerve and drowsiness. A CT scan was normal, as was the fundus examination. An EEG showed slight diffuse slowing.CSF examination disclosed pleocytosis with 72 white blood cells/mm 3 (80% lymphocytes). CSF-PCR for EBV, herpes viruses, varicella-zoster virus, and cytomegalovirus were negative. Bacterial cultures were negative. Blood cell counts and coagulation studies were normal; AST and ALT were 158 U/l and 363 U/l respectively. Serology showed IgG and IgM antibodies against EBV-capsid antigen. After an initial improvement of the meningeal symptoms, on day 16 left facial palsy, muscle twitching and lethargy were observed. A repeat CT scan showed mild third and lateral ventricular enlargement and moderate reduction of the prepontine cistern. Intravenous (IV) dexamethasone (0.08 mg/kg every 6 h) was started, but 2 days later the girl developed obtundation and irregular breathing. MRI showed marked cerebellar swelling and downward displacement of cerebellar tonsils, enlargement of the lateral and third ventricles and a clear signal increase in diffusion weighted (DW) images in the cerebellar cortex ( Fig. 1-A,B,C). There was no contrast enhancement. Mannitol (0.5 g/kg twice a day) as a 20% IV solution was added, followed by furosemide (0.7 mg/kg IV). The patient improved slowly and therapy was stopped after 12 days, dexamethasone being tapered over 15 more days. Three months later, neurological examination and MRI were normal.Neurological complications occur in 1% to 18% of patients admitted to hospital for IM, being sometimes the first and unique manifestations of EBV disease. The cerebellum is a predilection site for EBV but pathogenesis of cerebellitis is heterogeneous. Direct viral invasion and replication, an immuno-mediated post-infectious mechanism and liberation of an increased number of cytokines in the CNS can be involved in the process, and the distinction using clinical criteria is not always easy. Negative viral PCR assays cannot exclude CNS infections because there may be insufficient genome numbers in CSF and/or variations in virus genome. Both viral nucleic acids and antiviral antibodies have been isolated from the CSF of patients with acute cerebellar ataxia (ACA) and with acute disseminated encephalomyelitis following EBV infection. Auto-antibodies against white matter structures and myelin basic protein have been reported in some patients with ACA, suggesting a demyelinating process.A survey of the literature revealed six other paediatric cases of EBV-related severe cerebellitis (Table 1) [1,2,3,4,6]. Headache, vomiting and alterations in consciousness occurred 2-3 weeks after EBV infection, accompanied by ataxia, nystagmus, dysarthria and cranial nerve palsies. Severe sudden deterioration occurred as acute hydrocephalu...
SUMMARY Angelman Syndrome usually has been considered to be rare and sporadic. However, recent reports suggest a sibling recurrence risk of just under 25 per cent, so early diagnosis is very important. The authors report Angelman Syndrome in a child of seven months. The early features of this Syndrome (jerky movements, EEG characteristics, chromosomal abnormalities in half the cases) should make it possible to diagnose or suspect the Syndrome in the first year of life. RÉSUMÉ Syndrome d'Angelman durant la première année de vie Le Syndrome d'Angelman a été habituellement considéré comme rare et sporadique. Cependant, des articles récents suggérent un risque de réapparition dans la fratrie juste en dessous de 25 pour cent, et le diagnostic précoce est donc trés important. Les auteurs rapportent le cas d'un Syndrome d'Angelman chez un enfant de sept mois. Les caractéristiques précoces de ce Syndrome (mouvements brusques, caractéristiques particulières à l'EEG, anomalies chromosomiques dans la moitié des cas) deraient rendre possible le diagnostic ou suspecter le Syndrome au cours de la première année de vie. ZUSAMMENFASSUNG Angelman Syndrom im ersten Lebensjahr Das Angelman Syndrom wurde bisher als selten und sporadisch auftretend angesehen. In neueren Berichten wird jedoch von einem knapp 25‐prozentigen Wiederholungsrisiko bei Geschwistern gesprochen, sodaß die Frühdiagnose sehr wichtig ist. Die Autoren berichten über ein Angelman Syndrom bei einem sieben Monate alten Kind. Die Frühmerkmale dieses Syndromes (krampfhafte Bewegungen, EEG‐Charakteristika Chromosomenanomalien in der Hälfte der Fälle) sollten es möglich machen, das Syndrom im ersten Lebensjahr zu diagnostizieren oder zu vermuten. RESUMEN Síndrome de Angelman en el primer año de vida El síndrome de Angelman ha sido considerado habitualmente como raro y esporádico. Sin embargo aportaciones recientes sugieren un riesgo de recurrencia en hermanos de casi el 25 por ciento, por lo que es muy importante su diagnóstico precoz Los autores aportan un caso de sindrome de Angelman en un niño de siete meses. Los signos precoces de este síndrome (sacudidas, EEG característico, anomalías cromosómicas en la mitad de los casos) harían posible su diagnóstico o su sospecha en el primer año de vida.
SUMMARY The medical records of 68 children who had had infantile febrile status epilepticus (FSE) were examined. Follow‐up periods ranged from three to 28 years (mean 8 years 10 months). Details were abstracted of relevant medical events prior to FSE, diagnosis of the febrile illness, age at onset and main characteristics of FSE, and outcome (subsequent febrile convulsions and/or epilepsy, neurological and psychiatric disorders). Neither medical events prior to FSE nor aetiology of fever were associated with subsequent febrile convulsions, epilepsy, or neurological or psychiatric abnormalities. There was a significant association between age at onset of FSE and both subsequent epilepsy and CNS disorders. 12 of the 13 children who had had transient or persistent post‐ictal hemiparesis subsequently developed epilepsy. Of the 46 childien who later developed epilepsy, 34 had partial seizures and 12 had generalized seizures. The latter were more common among children who had had FSE before the age of one year. Likewise, all those who developed severe myoclonic epilepsy in infancy had their first FSE before age one. These findings suggest that age at onset of FSE is the most important feature determining long‐term outcome. RÉSUMÉ Etat de mal épileptique fébrile infantile: étude prospective des facteurs de risque et du devenir Les dossiers medicaux de 68 enfants ayant présenté un état de mal épileptique fébrile infantile (FSE) ont été analysés. Les périodes de suivi allaient de trois à 28 ans (moyenne 8 ans 10 mois). Les détails concernant les évènements médicaux significatifs avant le FSE, le diagnostic de l'affection fébrile, l'âge au début et les caractéristiques principals de FSE, le devenir (convulsions fébriles ultérieures et/ou épilepsies, troubles neurologiques et psychiatriques) ont été relevés. Ni les événements médicaux avant le FSE, ni l'étiologie de la fièvre n'étaient associés aux convulsions fébriles ultérieures, à l'épilepsie, aux anomalies neurologiques ou psychiatriques. II y avait une association significative entre l'âge au début de FSE et l'épilepsie ultérieure ou encore les troubles du système nerveaux central. 12 des 13 enfants ayant présenté une hémiparésis transitoire ou pérsistènte post‐critique presentment ultérieurement une épilepsie. Parmi les 46 énfants ayant presente ulterieurement une Epilepsie, 34 avaient des crises partielles et 12 des crises géréralisées. Celles‐ci étaient plus habituelles parmi les enfants ayant eu un FSE avant l'âge d'un an. Vraisemblablement, tous ceux qui préséntment une épilepsie myoclonique grave dans l'enfance avaient eu leur premier FSE avant l'âge d'un an. Ces données suggèrent que l'âge au début du FSE est le facteur le plus important déterminant le devenir à long terme. ZUSAMMENFASSUNG Der infantile, febrile Status epilepticus: eine prospektive Studie über Risikofaktoren und Outcome Von 68 Kindern, die einen infantilen, febrilen Status epilepticus (FSE) gehabt hatten, wurden die Krankengeschichten überprüft. Die Nachuntersuchungsperioden lagen zwischen dre...
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