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M Castro-Gago

Publications and source records attributed to M Castro-Gago.

126 records · Page 7Linked to original sources
PubMedDate not supplied

[Biochemical parameters predictive of neuronal damage in childhood].

INTRODUCTION: Hypoxemia, hypoxia and ischemia may induce deletereous effects on both metabolism and cellular structure, particularly at neuronal level. Early estimation of the potential severity of an acute cerebral hypoxic ischemic injury or other pathological conditions would be useful on making preventive or therapeutic decisions. On the basis of the physiopathological mechanisms involved in the brain damage related to hypoxic ischemic encephalopathy of the newborn, a number of metabolic parameters had been studied in the aim to provide an early and reliable marker of tissue injury for both diagnostic and prognostic purposes. OBJECTIVE: To provide a current revision about the diagnostic and prognostic value of various biochemical parameters determined in different body fluids and studied in the last years, the attention focusing in the hypoxic ischemic encephalopathy of the newborn. Design. For methodological purposes the exposition is structured in the following sections: 1. creatine kinase isoenzymes; 2. lactate; 3. lactate dehydrogenase, aspartate aminotransferase and hidroxybutirate dehydrogenase; 4. excitatory amino acids; 5. glial fibrillary acidic protein; 6. cytokines; 7. neuron specific enolase; 8. oxypurines; 9. cyclic adenosine monophosphate; 10. Others. CONCLUSIONS: The current role of the above mentioned biochemical parameters as predictors of brain damage and the future perspectives on this topic are discussed.

Aspartate Aminotransferases↗
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[Repercussion of mental retardation and associated cerebral palsy on skeletal maturation].

INTRODUCTION: Mental retardation (MR) constitutes a clinical and social relevant condition accounting for 3% of the pediatric population. Studies focusing the repercussion of MR on nutritional status are scarce and, in occasions, have produced contradictory results. OBJECTIVE: To evaluate the nutritional status of mentally retarded children in our Region, on the basis of skeletal maturation. PATIENTS AND METHODS: Our sample comprise 128 mentally retarded children (81 boys and 47 girls) aged 0 17 years. In all children a nutritional and social family environment questionnaires and a valuation of a series of nutritional and anthropometric variables were performed. Additionally, bone age was assessed by means of left hand wrist radiograph in a subset of 53 children. A factorial analysis was carried out by means of the statistical package SPSS allowing the obtaining of 2 anthropometric factors and 3 biochemical factors that condensed the most information content. Results of the bone maturation were correlated with age, sex, presence of cerebral palsy (CP), severity of mental retardation, results of nutritional and sociofamilial questionnaire, antiepileptic treatment and nutritional status (anthropometric and biochemical factors). RESULTS: Although a good correlation exists between bone age and chronological age, 50% of mentally retarded children presented delay in their skeletal maturation. The bone maturation was higher in the boys than in the girls. The presence of CP induced an increase of 12% in the delay of the skeletal maturation. The severity of MR induced differences in the bone age. Both quality of diet and score of anthropometric factor I inversely correlated with bone maturation delay. Parent s age and geographical precedence but not antiepileptic therapy affected the bone maturation. CONCLUSIONS: Delay in the bone maturation occurs with high prevalence among mentally retarded children. The presence of CP, severity of MR, quality of the diet and sociofamilial and nutritional factors influenced in an outstanding way in the bone maturation.

Adolescent↗
PubMedDate not supplied

[Muscular dystrophy due to a deficit of gamma-sarcoglycan. A report of three patients with the Delta-521t mutation].

INTRODUCTION: gamma-sarcoglicanopathies, also classified as limb girdle muscular dystrophy type 2C (LGMD2C) are a group of autosomal recessive muscular dystrophies due to mutations in 13q12 and subsequent g sarcoglican deficiency. The protein is one of the components of the dystrophin associated glycoprotein complex and is thought to impart structural integrity to the myofibre. The clinical course of the disease may be heterogeneous, ranging from severe forms with onset in the first decade and rapid progression resembling Progressive Duchenne muscular dystrophy (DMD) to milder forms with later onset and slower course. Cases hitherto reported in Spain corresponds to gypsie patients, homozygous for C283Y missense mutation. CASE REPORTS: Here, we report three new galician (Northwest Spain) patients (one male and one female sibling cases) with a severe DMD like muscular dystrophy homozygous for D 521T. In the first male familial case, initial diagnosis of DMD was made. On reevaluation fourteen years later, inmunohistochemical and molecular studies allowed for a definitive g sarcoglicanopathy diagnosis. CONCLUSIONS: Patients with a primary sarcoglycanopathy may be clinically indistinguishable from those with the primary dystrophinopathies. Probably, the diagnosis of LGMD are underestimated and a number of male patients diagnosed as DMD really corresponds to a recessive form o muscular dystrophy. Consequently, a definitive diagnosis rests on appropriate inmunohistochemical and molecular analysis, specially in those patients showing a normal pattern of dystrophin and/or suggestive for an autosomal recessive mode of inheritance.

Adolescent↗
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[The impact of sociofamilial factors on nutritional status in mentally retarded children].

INTRODUCTION: Mental retardation (MR) constitutes a clinical and social relevant condition accounting for 3% of the pediatric population. Studies focusing the repercussion or MR on nutritional status are scarce and, in occasions, have produced contradictory results. OBJECTIVE: To evaluate the nutritional status of mentally retarded children in our region, on the basis of the influence of sociofamilial factors, including details of diet and appetite. PATIENT AND METHODS: Our sample comprise 128 mentally retarded children (81 boys and 47 girls) aged 0 17 years. In all children a nutritional and social family environment questionnaires and a valuation of a series of nutritional and anthropometric variables were performed. A factorial analysis was carried out by means of the statistical package SPSS allowing the obtaining of 2 anthropometric factors (AF) and 3 biochemical factors (BF) that condensed the most information content. Results of the nutritional and sociofamilial questionnaire were correlated with biochemical and anthropometric factors. RESULTS: Score of the factor AF1 declined with declining quality of diet and appetite. Mean AF1 score was lowest among children from inland rural areas, intermediate among children from urban areas and highest among children of coastal areas. Age of the parents and number of brothers also influenced the value of AF1 score. Score of AF1 was not significantly affected, however, by social class. Quality of diet, appetite, geographic origin, number of brothers an age of the parents showed a similar influence on BF1. Moreover, the score of BF1 declined with declining socioeconomic status. CONCLUSIONS: Feeding behaviour has a significant influence on nutritional status both in biochemical and anthropometric parameters, so it must be promptly evaluated in mentally retarded children. Biochemical parameters were the most influenced by variation of socioeconomic status. Children from coastal areas showed the highest scores of nutritional parameters. Age of the parents significantly influenced the nutritional state.

Adolescent↗
PubMedDate not supplied

[Pediatric neurology and genetics: introduction].

INTRODUCTION: Heredity plays a role in a large proportion of pediatric neurologic disorders, and the spectacular recent developments in molecular genetics have contributed to improved understanding of the basic causes of many diseases and neurodevelopmental abnormalities. OBJECTIVE: To provide a brief introduction to certain genetic aspects of neuropediatrics. DEVELOPMENT: We consider the following aspects: 1) The importance of hereditary factors in pediatric neurology; 2) The different types of inheritance relevant in this context; 3) Nosologic, diagnostic and therapeutic implications of recent advances in molecular genetics; 4) Bioethical implications of the application of this new understanding. CONCLUSIONS: Independently of enhanced treatment prospects, progress in molecular genetics has improved the nosology and diagnosis of many pediatric neurological disorders.

Genetics↗
PubMedDate not supplied

[Multiple symmetric lipomatosis associated to polyneuropathology, atrophy of the cerebellum and mitochondrial cytopathy].

INTRODUCTION: Multiple symmetric lipomatosis (MSL), which is predominantly found in middle aged males, is characterised by accumulations of fat in the neck, shoulders and other parts of the trunk, and sometimes associated with different neurological manifestations, both central and peripheral. Although its aetiology is unknown, it has been described as associated with mitochondrial cytopathies. AIMS. To describe the case of a young female with MSL associated with mitochondrial encephalomyopathy. CASE REPORT: Girl aged 14 with MSL, ataxia, patellar hyperreflexia, bilateral Babinski sign, pes cavus, axonal peripheral neuropathy, involvement of the optic pathway, atrophy of the cerebellum, subsarcolemmal mitochondrial accumulations in the untrastructural examination of the vastus lateralis muscle and partial deficit of complex I in the mitochondrial respiratory chain. As regards molecular genetic aspects, the most frequent mutations of the ATPase 6 gene in lymphocytes, and mtDNA deletions and tRNALys and tRNALeu(UUR) mutations in muscles were excluded. CONCLUSIONS: Despite the fact that MSL is an entity normally found in adults, the possibility of its being diagnosed in the paediatric age must be taken into account. This case is probably the second time MSL has been observed associated with mitochondrial cytopathy in this age bracket.

Adolescent↗
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[Mixed hypotonia, neurological regression and atrophy of the cerebellum: manifestations that suggest infantile neuroaxonal dystrophy].

INTRODUCTION: Infantile neuroaxonal dystrophy (INAD), or Seitelberger disease, is a neurodegenerative disease of unknown origin which is transmitted by autosomal recessive inheritance. Clinically, it courses with psychomotor stagnation and regression that begins at the age of one or two years, associated to hypotonia with mixed clinical features (segmentary and suprasegmentary) that progresses towards spastic tetraplegia and progressive optic atrophy and dementia; this leads to death before the age of ten years. AIMS. To present the case of a 30 month old child with INAD, in whom a N acetylgalactosaminidase deficiency and mitochondrial cytopathy were ruled out. CASE REPORT: Male aged 30 months with an initial overall retardation, and later regression, of psychomotor acquisitions. In the physical exploration the patient displayed serious neurological involvement with mixed hypotonia, muscular hypotrophy with generalised weakness and mild bilateral horizontal nystagmus. Complementary explorations with neuroimaging revealed a slight increase in the subarachnoid space, with atrophy of the vermis and cerebellar hemispheres. Neurophysiological tests (EMG and ENG), which were initially normal, later showed signs of denervation in the EMG, and the ENG revealed a decreased amplitude of motor responses, with preservation of conduction speed. Histological tests showed the presence of axons with axoplasm expanded by the inclusion of typical tubulovascular structures. CONCLUSION: The clinical features of our patient met all the criteria to satisfy a diagnosis of INAD, and he displayed a classic form of the disease. INAD must be considered when the clinician is faced with: 1. A clinical picture of stagnation and later regression of psychomotor development before the age of two years; 2. Hypotonia, muscular atrophy and initial overall areflexia, with later progression towards pyramidalism; 3. Initially normal EMG findings, with later signs of denervation; 4. Cerebellar atrophy (hemispheres and vermis); 5. Visual deficit, and 6. Histopathological proof of characteristic findings.

Atrophy↗
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[Duplication of the PLP gene and the classical form of Pelizaeus-Merzbacher disease].

INTRODUCTION: Pelizaeus-Merzbacher disease (PMD) is a rare form of sudanophilic leukodystrophy which is transmitted by recessive inheritance linked to the X chromosome. It only affects the myelin of the central nervous system (CNS) and is caused by a proteolipid protein (PLP) deficit, which is coded for in Xq21.2-q22. Presentation follows a classical or connatal pattern and is associated with nystagmus, stridor and pyramidal/extrapyramidal manifestations within the framework of a clinical picture of psychomotor retardation and regression with variable clinical course and presentation. CASE REPORT: A 37-month-old male, with sever psychomotor retardation, nystagmus and choreoathetotic movements with a stationary developmental profile. An MRI scan of the brain showed severe supratentorial hypomyelination and peripheral electrophysiological explorations (EMG and NCS) were normal. The genetic study using PCR revealed duplication in the PLP gene. CONCLUSION: This observation corresponds to a classical form of PMD, which must be taken into account when associated with: 1) Psychomotor retardation; 2) Early nystagmus; 3) Pyramidal/extrapyramidal involvement; 4) Absence of peripheral neurophysiological involvement; 5) A neuroradiological pattern of hypomyelination of the CNS.

Child, Preschool↗
PubMedDate not supplied

[Phenotypic variability of deletion 22q11.2. An analysis of 16 observations with special emphasis on the neurological manifestations].

INTRODUCTION: The microdeletion 22q11.2 affects 1/4000 live births and constitutes the most frequent interstitial chromosomal alteration in humans. It is involved in a heterogeneous series of phenotypic expressions. AIMS: To determine the most important clinical characteristics in a series of patients with this genetic molecular disorder. PATIENTS AND METHODS: We conducted a retrospective study of 16 patients who had been diagnosed, by means of FISH or PCR, as having microdeletion 22q11.2, and the following data were evaluated in a protocolised manner: sex, age, family background, characteristics of the pregnancy, birth, neonatal and post-neonatal periods, clinical and semiological data, as well as the results from the complementary explorations carried out according to the predominant pathology. RESULTS: The age at which the diagnosis was made oscillated between newly born and 8 years, with a predominance of males over females in a ratio of 3.2/1. In all, 81% of patients presented neurological disorders. Brain malformations were seen in six, hypoplasia of the anguli oris muscle in five, congenital facial palsy in three which was associated with brain malformations in one patient, retarded neurodevelopment in six cases and neurogenic arthrogryposis in one. Other findings such as congenital heart disease (75%), skeletal disorders (37%), peculiar phenotypes (31%), nephrourological disorders (19%) and hypoacusis (19%) constitute significant manifestations of the process. Some of the most noteworthy occasional events include retarded height and weight development, hypocalcemia and cleft palate. In one case involving a child whose mother suffered from chronic alcoholism, there were both phenotypic traits of this entity and of foetal alcohol syndrome at the same time. In four of the patients the FISH technique did not detect the deletion, which was confirmed by a technique involving DNA amplification with PCR. CONCLUSIONS: The presence of central and peripheral neurological alterations, together with cardiac, skeletal, renal and auditory disorders was confirmed, as was the existence of neurodevelopmental retardation and a peculiar phenotype. Both the frequency and the kind of disorder coincided with what has been described earlier. A number of facts stand out owing to their novelty. These include the high incidence of asymmetric crying facies, the existence of data compatible with foetal alcohol syndrome in one of the patients with this clinical entity, and the association with neurogenic arthrogryposis in another, which are circumstances that suggest the possibility of a causal relation with the deletion 22q11.2. Using DNA amplification with PCR is seen to be of greater diagnostic efficacy than the FISH technique.

Abnormalities, Multiple↗
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[Hypomelanosis of Ito. A possibly under-diagnosed heterogeneous neurocutaneous syndrome].

INTRODUCTION: Hypomelanosis of Ito (HI) or incontinentia pigmenti achromians is a multisystemic neurocutaneous disorder that is associated to neurological complications in a high percentage of patients. AIMS: The purpose of this study is to review the most significant features in a series of 14 patients with HI. PATIENTS AND METHODS: We conducted a retrospective study in which the following data were analysed: age, sex, familial and personal history, clinical features and complementary explorations that were carried out. We report the cases of nine females and five males aged between 4 months and 14 years. RESULTS: All the patients presented neurological anomalies, including psychomotor or mental retardation in 11 (associated to autistic behaviour in two of them), neuroradiological anomalies in seven, microcephalus in three and epileptic seizures in two. Other significant complications were musculoskeletal and ocular anomalies (each of which were present in nine patients), dental disorders in six, coarse facies and dysmorphic ears in four patients, hypoacusis in five and congenital heart disease in two. The following were also observed, but as isolated events: choanal atresia, cleft palate, segmental dilatation of the colon, cryptorchidism, inguinal hernia, low height, vesicoureteral reflux and premature pubarche. CONCLUSIONS: There is no biological marker that identifies HI and a number of clinical forms only appear in the skin in a very mild form, which means they sometimes going unnoticed or are not considered to be important enough to establish a diagnosis. This entity may, therefore, be more frequent than we think and its prevalence is perhaps underestimated.

Abnormalities, Multiple↗
PubMedDate not supplied

[Smith-Magenis syndrome: a report of two new cases and an approximation to their characteristic behavioural phenotype].

INTRODUCTION: Smith-Magenis syndrome (SMS) is a well defined contiguous gene syndrome that is caused by an interstitial deletion in the 17p11.2 region. It is characterised by the presentation of characteristic facial features, brachydactylia, short stature, varying degrees of mental retardation, occasional neuropathy and a specific behavioural phenotype that points to this entity. AIMS: Our aim was to report the cases of two children with SMS and carry out an approximation towards their characteristic behavioural phenotype. CASE REPORTS: We studied the cases of two 12-year-old children who were suspected of suffering from SMS following the findings of a physical exploration and the presence of a specific behavioural phenotype. This was confirmed by the genetic-molecular study which proved the existence of the 17p11.2 deletion. CONCLUSIONS: Although SMS is a relatively infrequent syndrome, a patient with mental retardation and characteristic dysmorphic features who presents an especially relevant behavioural disorder including different stereotypic movements, aggression phenomena and sleep disorders is suggestive of this diagnostic possibility.

Abnormalities, Multiple↗
PubMedDate not supplied

[Mitochondrial encephalomyopathies and West's syndrome: a frequently underdiagnosed association].

INTRODUCTION: West's syndrome is known to have symptomatic, cryptogenetic and idiopathic forms. Greater knowledge of the different pathologies and the development of new diagnostic techniques have allowed the list of symptomatic forms to be extended and congenital disorders of the metabolism account for a significant percentage as an aetiopathogenic factor. Yet, although it is known that mitochondrial cytopathies can trigger the development of West's syndrome, few reports exist concerning their association. AIMS: Our aim in this paper is to report on four cases of West's syndrome in which a mitochondrial cytopathy was shown to be an aetiopathogenic factor. CASE REPORTS: Two females and two males aged between 2 and 10 months, who were suffering from West's syndrome. Biochemical and neuroimaging findings suggested a possible mitochondrial cytopathy, which was later confirmed in the four cases on observing a partial deficiency of some of the complexes of the mitochondrial respiratory chain in muscles; this was found to be simple in the first three (complexes III, I and IV, respectively) and combined in the fourth (complexes I and IV). CONCLUSIONS: Infantile spasms should be considered as one of the ways mitochondrial encephalomyopathies manifest themselves. As part of the process of diagnosing West's syndrome, we recommend tests be carried out to determine the levels of lactic and pyruvic acid, carnitine and amino acids in plasma, and possibly in the cerebrospinal fluid, as well as those of amino acids and organic acids in urine. A muscular biopsy must also be carried out in patients who are strongly suspected of having a mitochondrial cytopathy, as well as the corresponding molecular genetic study.

Comorbidity↗
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[Benign idiopathic external hydrocephalus (benign subdural collection) in 39 children: its natural history and relation to familial macrocephaly].

INTRODUCTION: Benign idiopathic external hydrocephalus (BIEH) is an age-dependent disorder that is self-limiting in time and has an uncertain aetiology. PATIENTS AND METHODS: A retrospective study was conducted involving 39 patients (16 girls and 23 boys) with BIEH. The following data were analysed for each patient: age, sex, family history, history concerning pregnancy, childbirth and neonatal period, postnatal history, data from clinical records and from physical examinations, progress of psychomotor development, findings from the first and successive neuroimaging studies, results of other complementary examinations, clinical and neuroimaging situation at the last check-up that was carried out, length of clinical control, age at which subdural effusion disappeared, and any other relevant associated facts. RESULTS: Age at diagnosis ranged from 1.33 and 25 months (mean: 8.4 months); in 38.46% of cases there was a history of macrocephalia in one of the progenitors; in four of them the presence of congenital macrocephalia was noted; in five, there was motor retardation and one of them displayed psychomotor retardation; in 15, there was an association with a slight dilatation of the lateral ventricles; the mean time of clinical control was 3.36 years; the process was seen to resolve in 14 cases; the minimum age for the disappearance of the subdural effusion was 9 months and the maximum was 8 years; macrocephalia persisted until the clinical control ended in 22 of the cases. We also noted the presence of two cases of mitochondrial encephalomyopathy, one craniosynostosis of the sagittal suture, one microdeletion 22q11.2, one a-1 antitrypsin deficiency, and one case of idiopathic bilateral congenital palpebral ptosis. CONCLUSIONS: The subdural effusion and/or macrocephalia persist in a high percentage of these patients and sometimes there is a close relationship between this condition and benign familial macrocephalia. Despite its benignity, it can influence psychomotor or motor retardation and behavioural disorders. On rare occasions it may be associated to mitochondrial encephalomyopathy and to the microdeletion 22q11.2.

Cephalometry↗
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[Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene].

INTRODUCTION: Pyruvate dehydrogenase (PDH) deficiency constitutes the most frequent metabolic origin of congenital lactic acidosis and is also responsible for a less usual form, found exclusively in females, which leads to a dysmorphic syndrome accompanied by severe cerebral malformations. The most common defect affects fraction E1alpha (gene Xp22.1-22.2). AIM: To report the case of a young female with PDH deficiency, dysmorphic syndrome, cerebral deformations and an unidentified mutation in the corresponding gene. CASE REPORT: An 8-month-old female with microcephaly, a narrow forehead, nasal hypoplasia, anteverted nostrils, thin lips, axial hypotonia, epileptic seizures and an umbilical hernia. Magnetic resonance imaging of the brain revealed intense supra- and infratentorial cortico-subcortical atrophy, ventricular dilatation and agenesis of the corpus callosum. Lactic and pyruvic acid concentrations were high both in blood and in cerebrospinal fluid (CSF), and the level of alanine was high in CSF. Muscular histology results were normal. PDH complex activity in fibroblasts and in muscle tissue, as well as that of the mitochondrial respiratory chain complexes in muscle homogenate, were found to be normal. A molecular genetic study of the gene for PDHE1alpha, both in formed elements in the blood and in fibroblasts, showed a C > T change in nucleotide 515 (C515T) of exon 6, which causes a P172L change in the protein. A study of 108 controls ruled out the possibility of a polymorphism. The parents did not have the mutation. CONCLUSIONS: The C515T mutation of exon 6 of the gene for PDH E1alpha is described. Normal activity of the PDH complex in fibroblasts and in muscle tissue does not exclude this condition.

Brain↗
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[Non-progressive congenital ataxias].

INTRODUCTION: Non-progressive congenital ataxias (NPCA) constitute a heterogeneous group of processes linked to diverse aetiological factors that can be either environmentally or genetically determined. The signs of cerebellar compromise, which are preceded by unspecific signs such as early hypotonia, difficulty in sucking or chewing or retarded motor acquisition, become apparent with development or may remain absent when the disorder is very severe. DEVELOPMENT: NPCA can be accompanied by a number of pathologies and their diagnosis can be made easier by the concurrence of symptoms or signs of extra-cerebellar involvement, such as dysmorphic features or abnormalities affecting the skin, heart, bones, blood, eyes or other areas of the central or peripheral nervous system. Neuroimaging usually reveals vermian hypoplasia and/or hypoplasia of the cerebellar hemispheres, but can be normal in certain situations. The article includes a review of the NPCA following the classification proposed by Steinlin in 1998. CONCLUSIONS: The difficulties inherent in diagnosing these processes makes it necessary to deploy a wide range of complementary examinations, especially metabolic tests, before a generic diagnosis of NPCA can be established. Although the progress made in molecular genetics has made it possible to categorise NPCA better, both their causation and their hereditary or sporadic nature remain unknown in about 50% of cases.

Cerebellar Ataxia↗
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[Migraine in childhood and adolescence: a retrospective review of hospital cases].

A retrospective study of 101 cases of infantile migraine aged between 3 and 14 years is reported. Both sexes were affected equally, being common migraine the most frequent form. The immediate positive family history for migraine and underlying precipitating factors were identified in 66% and 88% of the cases respectively. The electroencephalographic picture displayed focal spike and wave or sharp and slow wave discharges in 19.1% of the cases. The evolution was favourable in 92% and there was no correlated with headache frequency or treatment approach. The better therapeutic response was obtained when underlying precipitating factors were removed. The most effective prophylactic drugs in our series were flunarizine, propanolol and dimetotiazine. We discuss the most relevant features of the migraine in the infancy.

Calcium Channel Blockers↗