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ABSTRACT: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) were the first syndromes in humans that were known to originate from the phenomenon of the genomic imprinting. We review our experience of 21 years with PWS and AS that were confirmed with the genetically.
Of the 13,875 patients recorded during the study period, 11 were diagnosed with PWS (18%), 7 males (63.6%) and 4 females (36.4%), with a mean age of 9.06 years (+/- 6.92, range: 0.68-21.6). The time of the follow up of this group was 3.83 years (+/- 4.03, range: 0.49-15.3), and the age at diagnosis was 4.4 years (+/- 6.84, range: 0.03-19.38). Almost three quarters (72.7% of the PWS patients had a uniparental dysomy and 27.3% a paternal deletion. Six patients (8%) were diagnosed with AS, 4 females (66.6%) and 2 males (33.4%), with a mean age of 14.65 years (+/- 11.89, range: 1.3-30.7). The time of follow up was 6.76 years (+/- 5.89,range: 0.16-15), and the age at diagnosis was 8.84 years (+/- 9.11, range: 1.10-23). A maternal deletion was present in 83.3% of the AS patients and 16.7% had a maternal dysomy.
As genetic advances are made these pathologies are confirmed before. Unlike the data in the literature, in our series most patients diagnosed with PWS (72'3%) had uniparental disomy. Recent studies correlation genotype with phenotype, in PWS is more serious if it occurs a deletion and in SA is milder in the case of uniparental disomy.
Genetic studies must be performed in view of the established clinical symptoms: neonatal hypotonia of unknown cause in PWS and psychomotor deficits with autism features, particularly associated with epilepsy, must be evaluated in AS to prevent diagnostic uncertainties, unnecessary complementary examinations and to provide early genetic counselling.
Anales de Pediatría 03/2012; 77(3):151-7. · 0.77 Impact Factor
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Neurologia 05/2011; 27(3):183-5.
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ABSTRACT: We examine those prenatal encephalopathies with clinical or neuroimaging data of encephalopathy before the birth. They affect a significant number of children seen by paediatric neurologists. They can be of disruptive origin (due to vascular problems, drugs, toxins or congenital infections), and genetically determined. We include cases of autism spectrum disorder and mental retardation with no history of perinatal of postnatal damages.
We analysed our 19 year neuro-paediatric data base in search of prenatal encephalopathies and their diagnostic origin. We also analyse the studies made in the cases with a diagnosis of unknown origin.
The 19 year period of study in the data base included 11,910 children, and 1596 (13.5%) were considered as prenatal encephalopathies; 1307 children (81.4%) had a diagnosis of unknown origin, despite many investigations being done in a large number of them.
Most of the children included in this study suffer a rare disease, and whether they are identified or not, they increasingly require an early diagnosis. Peroxisomal, mitochondrial, lysosomal diseases, carbohydrate glycosylation deficiency syndrome and other inborn error of metabolism, congenital infections and genetic encephalopathies, can be clinically indistinguishable in early life and require specific studies to identify them. Early diagnosis requires strategies using step-wise systematic studies, giving priority to those diseases that could be treated, and in many cases using an individualised approach. We believe that the potential benefits of early diagnosis, including savings on further studies, genetic counselling and prenatal diagnosis, overcome the financial costs.
Neurologia 03/2011; 26(8):481-7.
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Anales de Pediatría 03/2011; 74(5):347-9. · 0.77 Impact Factor
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Neurologia 12/2010; 26(4):255.
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Anales de Pediatría 11/2010; 73(5):291-3. · 0.77 Impact Factor
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ABSTRACT: Mesial temporal sclerosis (MTS) is defined as neuron loss and gliosis in the hippocampus and adjacent structures. Here we report on our 19 years' experience in dealing with this condition.
A retrospective, descriptive study was conducted of patients diagnosed with MTS between May 1990 and January 2009.
A diagnosis of MTS was established in 16 cases (62.5% males). By location these cases were distributed as follows: 12 were unilateral (seven left temporal and five right) and four were bilateral. It was associated to cortical dysplasia in six patients (37.5%) and to hippocampal arachnoid cysts in two other cases. As regards possible causations, in one case herpes simplex encephalitis was suspected; in three cases, a prenatal cerebral vascular pathology; and in three others, prenatal infection by cytomegalovirus. The distribution of the clinical spectrum was as follows: five patients with isolated clinical epilepsy; one with isolated psychomotor retardation or mental retardation (PMR-MR); one with isolated autism spectrum disorder (ASD); three with epilepsy associated to PMR-MR; one with epilepsy associated to ASD; two with PMR-MR and ASD; and two with the triad consisting of epilepsy together with PMR-MR and ASD. In one case, MTS was discovered in migraine studies, without any other symptoms. Crises were controlled with monotherapy in all the patients who received antiepileptic treatment except in three, one of whom required surgery.
The definitive diagnosis of MTS is pathologic, but the latest neuroimaging techniques have allowed a very reliable approximate diagnosis to be reached. It may be associated to other malformative disorders, such as focal cortical dysplasia or cysts. MTS can be observed in epilepsy (whether refractory or not), but also in ASD, PMR-MR or asymptomatic patients.
Revista de neurologia 03/2010; 50(6):341-8. · 0.65 Impact Factor
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ABSTRACT: The prognosis of epilepsy is basically determined by its aetiology. Early onset of seizures is generally associated with poor progress.
We review our experience in epilepsy with children born after 1 January 1997 and who had their first seizure between 1 and 3 months of age before January 2008.
Eighteen cases diagnosed with epilepsy and a first seizure between 1 and 3 months of age were included. One case was within the Dravet syndrome spectrum with the c829 T>G c277G heterozygous mutation of the SCN1A gene. Four were cryptogenic epilepsies and thirteen were asymptomatic: 2 were inborn errors of metabolism (biotinidase deficiency with a response to biotin and Leigh's syndrome); 2 were of infectious origin and the remaining nine prenatal encephalopathy. Nine (50%) currently have a severe psychomotor delay and 2 died. The cryptogenic cases had a relatively poor progress.
Our experience corroborates the poor prognosis associated with early onset, between 1 and 3 months, of epileptic seizures. Given the wide aetiological range and the poor prognosis in the absence of specific treatment, an appropriate diagnostic-therapeutic strategy is required to avoid diagnostic uncertainties and can identify potentially treatable cases, such as some inborn errors of metabolism. In this age group, the protocol for convulsions of unknown cause must be the same as that for neonatal convulsions, including treatment with a vitamin cocktail, after collecting biological samples.
Neurologia (Barcelona, Spain) 03/2010; 25(2):90-5. · 0.79 Impact Factor
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Revista de neurologia 02/2010; 50(3):190-1. · 0.65 Impact Factor
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Anales de Pediatría 02/2010; 72(3):227-8. · 0.77 Impact Factor
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Revista de neurologia 02/2010; 50(4):255-6. · 0.65 Impact Factor
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ABSTRACT: We present the case of a 13 year-old patient diagnosed with fibromuscular dysplasia (FMD) by angiographic study, with "string of beads" image of internal carotid, after undergoing two ischemic strokes in nine days. Conservative treatment with acetylsalicylic acid at antiaggregant doses was decided. Twenty months later the clinical progress is favorable without presenting any new episodes. FMD is a very uncommon cause of stroke in childhood. Little is known about its etiology. In spite of it usually being an asymptomatic disease, it must be considered in cases of repeated or inexplicable strokes. Its prognosis and treatment is controversial, due to the limited number of pediatric patients with this pathology.
Anales de Pediatría 09/2009; 71(4):339-42. · 0.77 Impact Factor
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Anales de Pediatría 03/2008; 68(2):196-7. · 0.77 Impact Factor
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ABSTRACT: In neuropaediatrics, the aetiological diagnosis rarely allows a causal treatment to be established. In many cases, all we can offer is referral to early intervention (EI) and botulinum toxin type A (BTA). The only requirement before starting both interventions is a functional or syndromic diagnosis.
Here we analyse the experience gained from an EI programme carried out in the region of Aragon since February 2003 and with the BTA service in the Neuropaediatric Unit of the Hospital Universitario Miguel Servet since November 2003.
By the end of 2007, 2629 requests had been made for admission to the EI programme and in the year 2007 a total of 702 children were treated. In four years and four months 122 children with infantile cerebral palsy (ICP) were infiltrated with BTA, with positive results in 70% of cases and mild, transient side effects in 13.1%.
The children, parents and professionals involved all view EI and BTA with satisfaction. Neuropaediatrics is one of the medical specialties that are best suited to child development and early intervention centres (CDIAT). The neuropaediatrician participates in all the stages of the EI: detection, diagnosis, information and intervention. He or she may act as the coordinating and homogenising element in EI, that is to say, as a link between CDIAT and health care services. Neuropaediatricians are also essential in EI training and education, in family training, information and awareness campaigns, primary care, social services and nurseries. Treatment with BTA cannot be viewed as an isolated technique, but instead as part of a programme in which physiotherapy, orthosis and sometimes surgery play a fundamental role. Coordination among the different professionals involved in treating the child with ICP is absolutely crucial.
Revista de neurologia 01/2008; 47 Suppl 1:S25-33. · 0.65 Impact Factor
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J López-Pisón,
R Pérez-Delgado,
A García-Oguiza, M Lafuente-Hidalgo,
B Sebastián-Torres,
R Cabrerizo de Diago,
V Rebage,
M C García-Jiménez,
A Baldellou-Vázquez,
T Arana-Navarro,
V Alonso-Martínez,
J M Mengual-Gil,
J C Bastarós-García,
J L Peña-Segura
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ABSTRACT: The quality of the health care in a major part of neuropaediatrics benefits from appropriate communication and strategies that have been agreed with primary care (PC) paediatricians.
We analyse the children who were assessed in the Neuropaediatric service at the Hospital Universitario Miguel Servet in Saragossa over a period of eight years and we also discuss the most important courses of action followed in the most prevalent problems.
Eight reasons for visiting accounted for 86% of the total number: paroxysmal disorders (33%), headache (27%), psychomotor retardation (11.5%), alterations affecting the shape or size of the head (5.6%), problems at school and/or attention deficit (4.5%), behavioural disorders (4.25%), gait disorders (3.5%) and perinatal distress (3.4%). The most frequent diagnoses are headaches/migraines (26%), non-epileptic paroxysmal disorders (16.5%), prenatal encephalopathy (10.5%), epilepsy (8%), mental retardation (7.5%), infantile cerebral palsy (4.6%), cryptogenic attention deficit hyperactivity disorder (ADHD) (3.8%) and cryptogenic autism (3.6%).
The PC paediatrician working in close relation with the children and their families in all cases is the person mainly responsible for conducting a follow-up on some of the most prevalent problems, such as headaches, many non-epileptic paroxysmal disorders and ADHD. The processes must be established, clearly specified, based on the best evidence, with the participation and within reach of all the professionals involved, in order to favour homogeneity and keep variability in the interventions to a minimum. Channels of communication, including the information and communications technologies, need to be set up to allow health professionals to be permanently up-to-date and capable of controlling their patients in the best possible way.
Revista de neurologia 01/2008; 47 Suppl 1:S45-53. · 0.65 Impact Factor
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ABSTRACT: Infection by cytomegalovirus (CMV) is the most frequent congenital viral infection. Although it offers a wide range of manifestations, it nevertheless continues to be underdiagnosed if there are no symptoms in the newborn infant, which is what most commonly happens. A definitive retrospective diagnosis can only be reached after the first three weeks by detecting CMV DNA in blood on the filter paper used in the neonatal screening test.
The article reviews our experience with congenital CMV from a diagnostic perspective and with the study of CMV DNA in the heel prick test.
Of the 10,855 patients included in the neuropaediatric service database, there were 11 cases of congenital CMV. The diagnosis was only probable in four cases and it was definitive in seven of them, the diagnosis being obtained in the neonatal period in four of these patients and retrospectively in three others, by means of the heel prick test. The heel prick test was performed in 10 cases altogether, and was positive in five of them.
There can be no doubt that many cases of congenital CMV infection are still not diagnosed. Retrospective study of congenital infection by CMV by detecting DNA in blood from the filter paper used in the neonatal screening test should be considered in the presence of severe symptoms and different clinical pictures such as: delayed intrauterine growth, microcephaly, neurosensory hypoacusis, chorioretinitis, mental retardation, behavioural disorders (especially autistic spectrum disorders), intracranial calcifications, encephaloclastic disorders, leukoencephalopathy, cortical dysplasia and malformations of the temporal lobe or the hippocampus. Given its availability, ready access and low cost, the benefits to be gain from continuing to use the heel prick test should be reconsidered.
Revista de neurologia 48(7):349-53. · 0.65 Impact Factor
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ABSTRACT: Presentamos el caso de un varón de 13 años diagnosticado de displasia fibromuscular (DFM) por estudio angiográfico, con imagen �arrosariada� de la carótida interna, tras presentar 2 ictus isquémicos en 9 días. Se decidió tratamiento conservador con ácido acetilsalicílico en dosis antiagregantes. Veinte meses después, la evolución clínica es favorable, sin que haya presentado nuevos episodios. La DFM es una causa muy poco frecuente de ictus en la infancia. Se conoce poco acerca de su etiología. A pesar de tratarse de una entidad habitualmente asintomática, debemos pensar en su existencia ante ictus repetidos o no explicables por otra causa. Su pronóstico y tratamiento son controvertidos debido al escaso número de pacientes en edad pediátrica con esta enfermedad.
Anales españoles de pediatría: Publicación oficial de la Asociación Española de Pediatría (AEP), ISSN 1695-4033, Vol. 71, Nº. 4, 2009, pags. 339-342.
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J López-Pisón,
R Pérez-Delgado,
A García-Oguiza, M Lafuente-Hidalgo,
M García-Jiménez,
M L Calvo-Ruata,
J L Peña-Segura,
V Rebage,
M Girós-Blasco,
M J Coll,
A Baldellou-Vázquez
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ABSTRACT: The aetiology and clinical features of peroxisomal diseases vary widely. An altered very-long-chain fatty acid (VLCFA) profile is commonly found in many of these diseases, and this makes it easier to point the diagnosis in the right direction.
We review our experience in the diagnosis of cases of peroxisomal diseases with an altered VLCFA pattern; these were determined in serum only when there was a strong clinical suspicion up to the end of 1998, when their quantification by chromatography was introduced into our laboratory.
The neuropaediatric database included 10,239 cases between May 1990 and 1st October 2007. Ten cases of peroxisomal disease with an altered VLCFA pattern were identified, all of them males. There were two cases of Zellweger syndrome spectrum, one unclassified peroxisomal oxidation defect and seven X-linked adrenoleukodystrophies (four with neurological compromise and three with no neurological damage; two were identified in siblings of patients and the other due to the presence of Addison's syndrome).
In our 10 cases, the diagnosis was guided by the clinical or familial features that led to the determination of VLCFA. Being able to determine VLCFA makes early systematic diagnosis of patients possible. At present, VLCFA determination is performed when there is a clinical suspicion of Zellweger spectrum, suspected X-linked adrenoleukodystrophy/adrenomyeloneuropathy of unclear causation, Addison's disease, both in males and females, and above all in cases of chronic encephalopathy of unknown causation, with or without prenatal onset.
Revista de neurologia 47(1):1-5. · 0.65 Impact Factor
