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...
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