17 results on '"Muñoz Albillos M"'
Search Results
2. Aplasia cutis congénita en un recién nacido: revisión etiopatogénica y actitud diagnóstica
- Author
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Moros Peña, M., Labay Matías, M., Valle Sánchez, F., Valero Adán, T., Martín-Calama Valero, J., and Muñoz Albillos, M.
- Published
- 2000
- Full Text
- View/download PDF
3. Defectos de la fosforilación oxidativa de presentación neonatal: revisión casuística
- Author
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Rebage Moisés, V., Rite Gracia, S., López-Pisón, J., Muñoz Albillos, M., Aisa Pardo, E., Giménez Más, J.A., Arenas Barbero, J., Montoya Vilarroya, J., Marco Tello, A., Salazar García-Blanco, M.I., and Baldellou Vázquez, A.
- Published
- 2000
- Full Text
- View/download PDF
4. [Neurological consultations in adolescents: experience in the neuropediatric unit of a regional reference hospital]
- Author
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López Pisón J, Arana Navarro T, Loureiro González B, Muñoz Albillos M, J L, Peña-Segura, and P, Abenia Usón
- Subjects
Adult ,Male ,Age Distribution ,Adolescent ,Neurology ,Spain ,Craniocerebral Trauma ,Humans ,Female ,Nervous System Diseases ,Child ,Pediatrics ,Cerebral Hemorrhage - Published
- 2000
5. Disfunción autonómica paroxística desde el periodo neonatal y meduloblastoma
- Author
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López Pisón, J., primary, Monge Galindo, L., additional, García Jiménez, M.C., additional, Muñoz Albillos, M., additional, Rodríguez-Vigil, C., additional, and Pérez Delgado, R., additional
- Published
- 2011
- Full Text
- View/download PDF
6. Casuística de epilepsias idiopáticas y criptogénicas en una unidad de neuropediatría de referencia regional
- Author
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Javier López-Pisón, Abenia P, Galván M, Muñoz-Albillos M, José Luis Peña-Segura, and Arana T
- Subjects
Pediatrics ,medicine.medical_specialty ,Ohtahara syndrome ,Referral ,Cryptogenic epilepsy ,business.industry ,Neuropsychology ,General Medicine ,Benign Rolandic Epilepsy ,Infantile myoclonic epilepsy ,Infantile epilepsy ,medicine.disease ,Epilepsy ,medicine ,Neurology (clinical) ,business - Abstract
INTRODUCTION AND OBJECTIVES Advances in genetics, techniques for diagnosis and treatment, and increasing concern for the quality of life and neuropsychological aspects of epileptic children and the possible repercussions of treatment lead to changes in the approach to epilepsy and require continual adaptation. In this study we analysed a series of cases of idiopathic and cryptogenic epilepsy attended by the Neuropaediatric Department of the Hospital Miguel Servet in Zaragoza (Spain). PATIENTS AND METHODS We studied the cases diagnosed as having idiopathic or cryptogenic epilepsy between May 1990 and December 1999. RESULTS We assessed 4,507 children. In 1,794 (39.8%) consultation was for a paroxystic disorder. Epilepsy was diagnosed in 466 children (10.3%) and 103 cases were considered possibly or probably epilepsy but the diagnosis remains in doubt (2.3%). In 111 cases (23.8%) the epilepsy was considered idiopathic, in 122 (26.2%) cryptogenic and in 233 cases (50%) symptomatic. The following epileptic syndromes were identified: epilepsy-absence attacks in 28 cases (6%), benign myoclonic infantile epilepsy in 4 cases, other idiopathic generalized epilepsies in 61 cases (13%), benign Rolandic epilepsy in 18 cases (3.9%), 2 cases of cryptogenic Ohtahara syndrome, 6 cases of cryptogenic West syndrome, 1 severe case of infantile myoclonic epilepsy, 1 case of continuous wave epilepsy during slow eye movement sleep and 1 case of Landau-Kleffner syndrome. CONCLUSION Current requirements and the rate of advances in epilepsy make it essential for neuropaediatric teams to include experts in epilepsy.
- Published
- 2000
7. [Early diagnosis of a serious form of Pelizaeus-Merzbacher's disease confirmed by molecular analysis of the gene for proto-lipoproteins]
- Author
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López-Pisón J, Muñoz-Albillos M, Moros-Peña M, Medrano-Marina P, Ruiz-Escusol S, and odile boespflug-tanguy
- Subjects
Male ,Heterozygote ,X Chromosome ,Pelizaeus-Merzbacher Disease ,Chromosomes, Human, Pair 22 ,DNA Mutational Analysis ,Age Factors ,Brain ,Exons ,Magnetic Resonance Imaging ,Severity of Illness Index ,Cerebellum ,Humans ,Point Mutation ,Atrophy ,Child ,Myelin Proteolipid Protein - Abstract
Pelizaeus-Merzbacher's disease involves extensive demyelination of the Central Nervous System. This is due to a defect in the gene for proteolipoproteins, found on the X chromosome. It appears early as marked axial hypotonia, stridor, nystagmus and anomalous movements of the head, and later as variable pyramidal, extrapyramidal and cerebellar involvement.A three year old boy, with no unusual family history, was seen for psychomotor retardation. He had marked hypotonia, absence of evidence of social contact, inspiratory stridor, nystagmus and horizontal nodding movements of the head. MR at 4 months showed absence of supratentorial and infratentorial myelinization. Analysis of the gene for proteolipoproteins showed a specific mutation on the exon 5 C227Y. At eight and a half years there was persistence of the severe axial hypotonia with minimal visual function and social contact was maintained through hearing.It is possible to make an early diagnosis of Pelizaeus-Merzbacher's disease in the first weeks of life, on the typical clinical picture and MR findings of marked extensive hypomyelination, although assessment of myelination is difficult at this age. Early diagnosis is very important, since molecular analysis of the proteolipoproteins gene permits confirmation of the diagnosis, identification of heterozygotes and the establishment of prenatal diagnosis.
8. [Paroxysmal autonomic dysfunction of neonatal onset and medulloblastoma].
- Author
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López Pisón J, Monge Galindo L, García Jiménez MC, Muñoz Albillos M, Rodríguez-Vigil C, and Pérez Delgado R
- Subjects
- Humans, Infant, Newborn, Male, Autonomic Nervous System Diseases etiology, Cerebellar Neoplasms complications, Medulloblastoma complications
- Published
- 2011
- Full Text
- View/download PDF
9. [Cases of symptomatic epilepsy at a regional reference neuropediatric unit].
- Author
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López Pisón J, Arana Navarro T, Abenia Usón P, Ferraz Sopena S, Muñoz Albillos MS, and Rebage Moisés V
- Subjects
- Adolescent, Child, Child, Preschool, Epilepsy diagnosis, Hospital Departments, Humans, Neurology, Pediatrics, Referral and Consultation, Spain, Epilepsy etiology
- Abstract
Objective: The objective of this study was to analyze, from an aetiological angle, the cases seen with symptomatic epilepsy by the Seccion de Neuropaediatria del Hospital Miguel Servet de Zaragoza., Patients and Methods: We studied the cases diagnosed as having symptomatic epilepsy between May 1990 and November 1999., Results: Of a total of 4,466 children assessed during the study period, the diagnosis of epilepsy was established in 461 children (10.3% of the total). This included idiopathic epilepsy in 110 cases (23.9%), cryptogenic epilepsy in 119 cases (25.8%) and symptomatic epilepsy in 232 cases (50.3%). The aetiologies of the symptomatic epilepsies were: prenatal encephalopathies in 137 cases (59%), perinatal encephalopathies in 33 (14.3%), postnatal encephalopathies (due to accidents, acquired infections and postnatal cerebrovascular accidents) in 20 (9%), tumours ( including the post-operative period) in 14 (6%), neurocutaneous syndromes in 13 (5.6%), metabolic and degenerative disorders in 13 (5.6%) and one case of vascular malformation., Conclusions: The symptomatic epilepsies make up half the epilepsies evaluated by the department of neuropaediatrics. In 59% the cause was prenatal. Other causes of symptomatic epilepsy were also represented in the series. A detailed study of these should help us to understand and manage them better. We consider aetiological aspects to be very important in the study of epilepsy, since the aetiology is one of the most important factors in prognosis.
- Published
- 2001
10. [Cases of idiopathic and cryptogenic epilepsias in a regional referral neuropediatric unit].
- Author
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López-Pisón J, Arana T, Abenia P, Galván M, Muñoz-Albillos M, and Peña-Segura JL
- Subjects
- Adolescent, Child, Child, Preschool, Epilepsy classification, Humans, Pediatrics, Spain epidemiology, Epilepsy epidemiology
- Abstract
Introduction and Objectives: Advances in genetics, techniques for diagnosis and treatment, and increasing concern for the quality of life and neuropsychological aspects of epileptic children and the possible repercussions of treatment lead to changes in the approach to epilepsy and require continual adaptation. In this study we analysed a series of cases of idiopathic and cryptogenic epilepsy attended by the Neuropaediatric Department of the Hospital Miguel Servet in Zaragoza (Spain)., Patients and Methods: We studied the cases diagnosed as having idiopathic or cryptogenic epilepsy between May 1990 and December 1999., Results: We assessed 4,507 children. In 1,794 (39.8%) consultation was for a paroxystic disorder. Epilepsy was diagnosed in 466 children (10.3%) and 103 cases were considered possibly or probably epilepsy but the diagnosis remains in doubt (2.3%). In 111 cases (23.8%) the epilepsy was considered idiopathic, in 122 (26.2%) cryptogenic and in 233 cases (50%) symptomatic. The following epileptic syndromes were identified: epilepsy-absence attacks in 28 cases (6%), benign myoclonic infantile epilepsy in 4 cases, other idiopathic generalized epilepsies in 61 cases (13%), benign Rolandic epilepsy in 18 cases (3.9%), 2 cases of cryptogenic Ohtahara syndrome, 6 cases of cryptogenic West syndrome, 1 severe case of infantile myoclonic epilepsy, 1 case of continuous wave epilepsy during slow eye movement sleep and 1 case of Landau-Kleffner syndrome., Conclusion: Current requirements and the rate of advances in epilepsy make it essential for neuropaediatric teams to include experts in epilepsy.
- Published
- 2000
11. [Atopic dermatitis and topical wheat: always friends?].
- Author
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Labay Matías M, Muñoz Albillos MS, Moros Peña M, and Valle Sánchez F
- Subjects
- Child, Child, Preschool, Dermatitis, Atopic epidemiology, Female, Humans, Infant, Male, Dermatitis, Atopic etiology, Wheat Hypersensitivity complications
- Published
- 2000
12. [Cerebral ischemia following varicella. A case report].
- Author
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Moros-Peña M, Muñoz-Albillos MS, Peña-Segura JL, Abenia P, Galván M, and López-Pisón J
- Subjects
- Brain Ischemia diagnosis, Caudate Nucleus pathology, Child, Preschool, Humans, Internal Capsule pathology, Magnetic Resonance Imaging, Male, Paresis diagnosis, Paresis etiology, Putamen pathology, Brain Ischemia etiology, Chickenpox complications
- Abstract
Introduction: Varicella in childhood is a self-limiting disease which usually follows a benign course. However, a considerable number of complications occur, particularly involving the nervous system. On rare occasions hemiparesis has been reported following an ischemic cerebrovascular accident related to varicella., Clinical Case: We report the case of a 4 year old boy who presented with right hemiparesis eight days after the onset of varicella. CAT and MR showed a cerebral infarct involving the left caudate nucleus, putamen and internal capsule. Other possible causes of cerebral infarct were ruled out. Four years later he had slight residual right hemiparesis. The pathogenesis may have been due to vasculitis of the intracranial arteries caused by direct invasion of the vessels by virus from the nearby nerve tissue. Another theory suggest similarities with moyamoya disease, suggesting that lesions of the head and neck stimulate the superior cervical ganglion and this, together with the production of circulating immuno-complexes may be the cause of the vasculopathy of the intracranial blood vessels., Conclusions: In most cases of cerebrovascular accidents occurring in childhood the cause is unknown. However, it is important to discover the cause since the risk of recurrence often depends on the primary disease. Once other commoner causes have been excluded, one should ask whether there is a history of varicella, since the prognosis is generally good and recurrence uncommon.
- Published
- 2000
13. [McArdle's disease in a 14-year-old girl with fatigability and raised muscle enzymes].
- Author
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López-Pisón J, Muñoz-Albillos MS, Boudet-García A, Giménez-Más JA, Peña-Segura JL, and Abenia-Usón P
- Subjects
- Adolescent, Energy Metabolism physiology, Exercise, Exercise Test, Female, Glycogen Storage Disease Type V complications, Humans, Lactic Acid metabolism, Pyruvic Acid metabolism, Creatine Kinase metabolism, Fatigue etiology, Glycogen Storage Disease Type V diagnosis, Glycogen Storage Disease Type V enzymology, Muscle, Skeletal enzymology, Phosphorylases metabolism
- Abstract
Introduction: McArdle's disease is a disorder of muscle energy metabolism caused by a deficit of muscle phosphorylase. The typical form presents with fatigability muscle cramps and pains triggered by physical exercise. Some cases have few symptoms. We report the case of a 14 year old girl diagnosed on finding a significantly raised CPK, studied following her complaint of fatigability., Clinical Case: A 14 year old girl presented with a CPK of 1,243 UI/l (normal 10-32) which had been requested in view of her fatigability. She had never had cramps, muscle pains or dark urine. Neurological examination was normal. The levels of CPK after intense exercise on the previous days were 7,459 UI/l, and after rest for one week were 283 UI/l (normal 25-230). The ischemic exercise test showed that she was unable to finish the test, with flat lactate and pyruvate curves and markedly raised ammonia (basal 89 and maximum 571 micrograms/dl). On muscle biopsy, the morphology of the striated muscle was seen to be normal and staining for myophosphorylase was negative., Conclusions: The fluctuations of muscle enzyme levels in relation to exercise orientate the diagnosis towards a disorder of muscle energy metabolism. To detect this, the investigation should be carried out following severe exercise for several days and then compared with a further test after some days of rest. The ischemic exercise test permits identification of defects of glycogenolysis, orientating the choice of suitable histochemical, enzymatic or molecular biological tests.
- Published
- 2000
14. [Aplasia cutis congenita in a newborn: etiopathogenic review and diagnostic approach].
- Author
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Moros Peña M, Labay Matías M, Valle Sánchez F, Valero Adán T, Martín-Calama Valero J, and Muñoz Albillos M
- Subjects
- Humans, Infant, Newborn, Male, Ectodermal Dysplasia diagnosis, Ectodermal Dysplasia etiology
- Abstract
Aplasia cutis congenita is a rare condition characterized by the congenital absence of epidermis, dermis and, in some cases, subcutaneous tissues. It was first described by Cordon in 1767 and more than 500 cases have been reported since, with an estimate incidence of 3 in 10,000 births. The lesions may occur on any body surface although localised agenesis of the scalp is the most frequent pattern. In approximately 20% of cases underlying bone defects are also found. Aplasia cutis congenita occurs as an isolated defect or with other associated anomalies. There is no unifying theory for the pathogenesis and large scalp defects present a management dilemma. We report a newborn with a large scalp defect in the midline at the vertex without associated malformations. There was no significant family history. Skull and extremities radiographs, chromosome analysis, cerebral and abdominal sonography were normal. Two methods of treatment were used: a conservative approach consisting of daily antiseptic dressing to allow scalp epithelialization improved conditions for secondary surgery at 30 days of life, closing the defect with local rotational flaps. The postoperative course was uneventful and an excellent cosmetic result was achieved.
- Published
- 2000
15. [Oxidative phosphorylation defects with neonatal presentation: review of our caseload].
- Author
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Rebage Moisés V, Rite Gracia S, López-Pisón J, Muñoz Albillos M, Aisa Pardo E, Giménez Más JA, Arenas Barbero J, Montoya Vilarroya J, Marco Telloa A, Salazar García-Blanco MI, and Baldellou Vázquez A
- Subjects
- Female, Humans, Incidence, Infant, Newborn, Male, Phenotype, Metabolism, Inborn Errors diagnosis, Metabolism, Inborn Errors epidemiology, Metabolism, Inborn Errors etiology, Metabolism, Inborn Errors metabolism, Oxidative Phosphorylation
- Abstract
Objectives: To define the oxidative phosporilation deficit syndrome in the neonatal in terms of incidence and clinical, biochemical and genetic features., Material and Methods: We report 9 newborns diagnosed as oxidatic phosporilation deficit during the last 8 years in our hospital by means of clinical, metabolic, pathological and molecular studies, among other evaluations. The diagnosis was established based on ensymatic deficit of the respiratory chain, associated with alterations in the mtDNA in one case, and with mitochondrial ultrastructural anomalies in 5 cases., Results: There was an incidence of 1/3.555 newborns and 1/832 newborns admitted in our Neonatal Unit. In four of them there were familial antecedents and polihidramnios in two. Most of them, 8 out of 9, were born at term after a normal pregnancy and delivery, with normal Apgar score and auxological examination. Symptomatology started immediately at the neonatal period as acute neurological damage in most of them. There was a severe evolution as 5 children died and 4 survived with severe damage. All of them had the classical phenotype of early severe encefalopathy, associated with dismorphic features, hypotomía, neurosensorial defects, brain dysgenesis and atrophy, anomalies in the EEG and in 5 of them there were also systemic anomalies, mainly cardiopathy. The most frequent biochemical alteration was a significative increment of the quotient lactate/piruvate. Five patients presented ultrastructural alterations of the mitochondria in thr muscle biopsy but Cox stain was not positive in any case. Three cases has a deficit of the complex IV, e of the complex I-IV, 2 of the complex I and one the complex I-III-IV. Only one patient had multiple deletions in the mtDNA., Conclusions: Oxidatic phosporilation deficit are frequent and severe diseases of prenatal onset with limited fetal effects, homogeneous clinical phenotype with frequent damage of the central nervous system and variable extraneurological alteration and inconsistent biochemical pattern. Enzymatic studies ar need for making the diagnosis in all suspected cases,
- Published
- 2000
16. [Early diagnosis of a serious form of Pelizaeus-Merzbacher's disease confirmed by molecular analysis of the gene for proto-lipoproteins].
- Author
-
López-Pisón J, Muñoz-Albillos M, Moros-Peña M, Medrano-Marina P, Ruiz-Escusol S, and Boespflug-Tanguy O
- Subjects
- Age Factors, Atrophy pathology, Brain pathology, Cerebellum pathology, Child, DNA Mutational Analysis, Exons genetics, Heterozygote, Humans, Magnetic Resonance Imaging, Male, Point Mutation genetics, Severity of Illness Index, X Chromosome genetics, Chromosomes, Human, Pair 22 genetics, Myelin Proteolipid Protein genetics, Pelizaeus-Merzbacher Disease diagnosis, Pelizaeus-Merzbacher Disease genetics
- Abstract
Introduction: Pelizaeus-Merzbacher's disease involves extensive demyelination of the Central Nervous System. This is due to a defect in the gene for proteolipoproteins, found on the X chromosome. It appears early as marked axial hypotonia, stridor, nystagmus and anomalous movements of the head, and later as variable pyramidal, extrapyramidal and cerebellar involvement., Clinical Case: A three year old boy, with no unusual family history, was seen for psychomotor retardation. He had marked hypotonia, absence of evidence of social contact, inspiratory stridor, nystagmus and horizontal nodding movements of the head. MR at 4 months showed absence of supratentorial and infratentorial myelinization. Analysis of the gene for proteolipoproteins showed a specific mutation on the exon 5 C227Y. At eight and a half years there was persistence of the severe axial hypotonia with minimal visual function and social contact was maintained through hearing., Conclusions: It is possible to make an early diagnosis of Pelizaeus-Merzbacher's disease in the first weeks of life, on the typical clinical picture and MR findings of marked extensive hypomyelination, although assessment of myelination is difficult at this age. Early diagnosis is very important, since molecular analysis of the proteolipoproteins gene permits confirmation of the diagnosis, identification of heterozygotes and the establishment of prenatal diagnosis.
- Published
- 1999
17. [Foreign bodies in respiratory tract of small children: avoidable accidents resulted from family negligence or ignorance. A need for institutional educational campaign in Spain].
- Author
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Labay Matías M, Muñoz Albillos MS, de Miguel Pardo C, Valero Adán MT, Valle Sánchez F, Navarro Serrano E, Martín-Calama J, and Solans Bascuas MT
- Subjects
- Catchment Area, Health, Child, Preschool, Female, Foreign Bodies epidemiology, Humans, Infant, Male, Organizational Policy, Respiratory System, Spain, Attitude to Health, Caregivers, Child Abuse prevention & control, Foreign Bodies diagnosis, Foreign Bodies prevention & control, Health Education, Health Promotion
- Published
- 1999
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