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Biomedical subjects

I Pascual-Castroviejo

Publications and source records attributed to I Pascual-Castroviejo.

At least 19 recordsLinked to original sources
PubMed2006

[Incontinentia pigmenti: clinical and neuroimaging findings in a series of 12 patients].

OBJECTIVE: To describe the clinical, neuroimaging 51 with magnetic resonance imaging (MRI) and evolutive findings in 12 patients with incontinentia pigmenti (IP). Five patients show cutaneous and neurological lesions and seven only show cutaneous lesions without neurologic or/ and ophthalmologic abnormalities. MATERIAL AND METHODS: Five mothers and seven daughters from four families were studied and followed between 1965 and 2004. The studies consisted of detailed clinical history since birth, physical examination, family history, EEG recordings and MRI studies. In some patients, at least three MRI studies were performed during our follow-up. All patients were followed-up since their first visit until 2004. Including four patients since birth or early infancy. Skin biopsies were obtained from two infants for histological study. RESULTS: MRI studies revealed brain abnormalities in five girls who had neurologic signs associated with the cutaneous lesions of IP. Brain lesions were bilateral in four and unilateral in one. Cerebellar changes were observed only in one case who also showed severe cerebral lesions. The lesions involved cortex, subcortical and deep white matter, ependymal and subependymal zones of one or both cerebral hemispheres. Lesions usually were localized and extended radially to involve all the cerebral parenchyma between ependyma and cortex. Affected areas did not correspond to territories vascularized by any determined artery. The corpus callosum showed generalized or localized atrophy in the five patients who had cerebral hemispheric lesions. Although parenchymal changes were seen in both the T1 and T2 weighted images, these were most evident in the latter. Parenchymal abnormalities were most severe in patients with neonatal severe cutaneous lesions, especially if these were located in the scalp. Cerebral lesions were present from birth or the first months of life and changed little thereafter. The acute appearance and distribution of cerebral lesions always during the neonatal period, associated with scalp lesions in stage 1, suggest an acute inflammatory origin of unknown etiology and of nonprogressive course. Ocular lesions were directly related with cerebral abnormalities. Patients who only had cutaneous lesions without neurologic symptoms showed no MRI abnormalities. CONCLUSIONS: Neuroimaging studies reveals brain lesions only in patients with neurologic disease in this serie. The brain lesions may involve one or both cerebral hemispheres, corpus callosum, and cerebellum. The brain lesions correlate with the neonatal scalp lesions in stage 1, suggests an inflammatory process of unknown etiology and non-progressive course. The appearance and distribution of the cerebral lesions do not follow the territories vascularized by specific arteries. Ocular lesions are observed only in patients with severe cerebral changes. Early onset of cerebral lesions may be the most reasonable explanation for the progressive microcephaly within the first year of life in IP.

Abnormalities, Multiple↗
PubMed2006

[Tuberous sclerosis complex type 1 (TSC1): diagnostic significance of the cutaneous mini-lesions in a familial presentation].

We present a family with tuberous sclerosis complex type 1 (TSC1). The family is formed by six patients. Two sibs, female and male, both patients having minor signs of the disorder. The woman have two daughters, one of them with severe clinical and radiological features of TSC1, and the other who only has a small cutaneous acromic spot. The man has two sons, one with severe features of TSC1, and the other with cutaneous mini-lesions. DNA study of the two cousins, woman and man, with cutaneous mini-lesions, showed a mutation in the chromosome 9 (1749 del GA) (TSC1 ex 15) in both patients. No pathogenic mutation in the TSC2 gene was detected in the two cousins.

Adult↗
PubMed2006

[Moyamoya disease: follow-up of 12 patients].

INTRODUCTION: We present 12 patients with moyamoya disease and their evolution from an early age to adulthood in some cases. MATERIAL AND METHODS: The patients (nine females and three males) were first studied before 10 years of age because of neurological disease. Bilateral carotid and vertebrobasilar arteriographies were performed during initial evaluation. In the patients who were followed-up during several or many years (in one, during 33 years and, in two, during 25 years), neuroimaging studies were done by magnetic resonance angiography (MRA). One patient also had neurofibromatosis type 1 (NF1). RESULTS: All patients showed bilateral occlusion of the supraclinoid portion of the internal carotid arteries. The basilar artery was markedly narrowed in one patient. One patient with very early onset of symptoms also showed collateral vascularization through the Bernasconi- Cassinari artery. Cerebral multifocal cortical and subcortical lesions were seen in the patients who had very long follow-up, although these already had appeared in the first MR studies. One patient showed arterial moyamoya 31 images and fibromuscular dysplasia. She was the only patient treated surgically during childhood with death after a short time. Another patient had a pregnancy and vaginal delivery at 26 years of age without complications. Images of moyamoya did not disappear in any of the patients in this series. Seizures were controlled with antiepileptic medication in all patients except in one who had NF1 and severe cerebral lesions. Although it is difficult to demonstrate the efficacy of calcium-antagonist medication (nicardipine), we found that it improved the neurological symptoms in most of our patients. CONCLUSIONS: Long-term follow-up of the patients in this series showed some neurological problems, although most of them did well, including those cases with early onset of symptoms. All adult patients in this series were working, although some of them in low qualified jobs. Collateral vascularization was very marked in all patients except in one who also showed fibromuscular dysplasia. Moyamoya images did not disappear in any patient. Ischemic cerebral lesions seem to be underlying the cause of the neurological sequelae. Seizures responded well to antiepileptic medication.

Child↗
PubMed2005

Oculocerebrocutaneous (Delleman) syndrome: report of two cases.

We describe two cases of oculocerebrocutaneous syndrome (OCCS) or Delleman syndrome, characterized by congenital anomalies that involve the skin, orbit, and central nervous system (CNS). Complete MRI studies of the orbit, CNS and the entire spinal region must be performed in these cases. New MRI techniques can show cortical malformations, such as polymicrogyria, lissencephaly, or abnormal disposition of cortical sulci and gyri. Lesions can be bilateral or unilateral, as occurred in our patients. In one case, the ocular, skin, cerebral, and cerebellar lesions involved mainly the same side, whereas in the second case, all anomalies were generalized and the patient also showed skin hypopigmented lesions distributed bilaterally. Both patients show severe encephalopathy and Dandy-Walker malformation. One case is blind and shows generalized hydrocephalus, and the other one has vision through an eye, and has complete agenesis of the corpus callosum and severe disorder of neuronal migration and cortical organization with polymicrogyria and abnormal cortical sulci and gyri in a cerebral hemisphere. Our second case shows arachnoid cysts in both temporal, retrocerebellar, and spinal (D(8)-D(11)) regions, and lipoma in the pontomedullary and spinal (D(4)-D(7)) regions. The latter features correspond more to ECCL than to OCCS. The overlap between the two syndromes is unquestionable and it is possible that they constitute different manifestations of the same disorder.

Abnormalities, Multiple↗
PubMed2005

[L-2 hydroxyglutaric aciduria in a patient with Klinefelter syndrome].

We present a of 22 years old patient who has a severe cerebellar disease that started during the first years of life, borderline mental level, epilepsy and Klinefelter syndrome. Brain magnetic resonance (MR) imaging revealed swollen white matter with a loss of signal on T1-weighted slices and an increase in signal intensity on T2-weighted images in both cerebral hemispheres and in both cerebellar dentate nuclei. MRI alterations did not change during the studies performed from 4 to 21 years. Blood and urine were analyzed and showed great elevation of L-2-hydroxyglutaric acid (L-2-HGA) and more discrete elevation of its metabolites and lysine. The parents of the patient are first cousins.

Adolescent↗
PubMed2005

[Costello syndrome. Presentation of a case with a follow-up of 35 years].

OBJECTIVE: To present a patient of 35 years with Costello syndrome. MATERIAL AND METHODS: A male consulted at 11 months of age because of psychomotor delay and peculiar face. RESULTS: The main clinic features corresponded to the cutis laxa disease, although the picture and the results of the performed studies were not similar to any of the dysmorfic recognized syndromes. CONCLUSION: The follow-up of the patient during 35 years showed a long survival, despite the cardiopathy, although he has a severe psychic retardation, showed very low height and weight centiles, and very high head circumference centiles.

Abnormalities, Multiple↗
PubMed2005

[Glutaric aciduria type 1 with normal evolution: follow-up of one case until adult age].

We present a patient of 20 years of age with glutaric aciduria type 1 (GA1) and normal psychomotor development. Her symptoms consisted of a few convulsions between 2.5 and 4.5 years of age. She was diagnosed at 9 years of age because of the typical alterations of GA1 that appeared in computed tomography and magnetic resonance (MR) imaging studies. Enzymatic activity in fibroblasts culture was nonexistent and glutarate excretion was elevated in the annual controls where this was investigated from the diagnosis of the disease so far. MR studies showed hyposignal in T1 of the subcortical white matter, severe dilatation of the Sylvian region and temporal fossa subarachnoid spaces, and hypoplasia of the subjacent cerebral parenchyma and of both temporal lobes. The corpus callosum and the surrounding zones appeared very enlarged and with signal changes. Spectroscopic MR showed signs of membrane instability and cellular impoverishment in subcortical white matter and basal ganglia and presence of lactic acid. Macrocephaly always maintained centiles over 98. The patient has no abnormal movements or motor disturbances, her behavior and intelligence being normal and she is able to follow studies of middle level.

Basal Ganglia↗
PubMed2005

[Muscle-eye-brain disease. Presentation of one case with genetic study].

INTRODUCTION: The objective [corrected] is to present a case of muscle-eye-brain (MEB) disease with genetic study. MATERIAL AND METHODS: We studied an affected male from the age of 7 months to 21 years. During this time, clinical, analytical, neurophysiological (EEG, EMG, visual evoked potential [VEP], electroretinogram [ERG]), image (CT, MR), cerebral biopsy and genetic studies were performed. RESULTS: Severe visual acuity impairment with optic atrophy from the first months of life, abnormal VEP and ERG, CT and MR showing < > image of the cerebral cortex and subcortical white matter with myelinating changes; the histologic study of the cerebral biopsy sample showed hypomyelinating lesions and migration changes. The patient is alive at 21 years of age. The genetic study confirmed the presence of two recessive mutations, c.1274G>C and c.1895+1_4delGTGA, within the POMGnT1 gene. CONCLUSIONS: The patient shows typical clinical, neurophysiological, histological and genetic MEB features.

Adult↗
PubMed2004

[Williams-Beuren syndrome: presentation of 82 cases].

OBJECTIVE: We performed a retrospective review of a series of 82 cases of Williams-Beuren syndrome (WBS) and associated diseases. MATERIAL AND METHODS: A series of 82 patients (47 males and 35 females) who consulted at the hospital because of mental retardation and/or congenital cardiopathy were included. The patients were studied mainly from a neurological and cardiological point of view, and secondarily because of endocrinological and nephrological problems. Since description of the chromosomal abnormalities provoking the syndrome, we perform karyotyping in all patients with suspected WBS. RESULTS: Alterations mainly consisted of distinctive facial appearance (100 %), mental retardation with friendly behavior (90 %), congenital cardiopathy (85.4 %), mostly consisting of supravalvular aortic stenosis (72 %), with (12 %) or without (60 %) pulmonary stenosis, and behavior typical of attention deficit-hyperactivity disorder, which usually manifested at the age of 4 to 5 years in both boys and girls. Approximately 90 % started to walk and speak later than average. Birthweight was below 3000 g in 65 % of the patients in whom this datum was included in the medical record. Eleven of the 13 patients (84.5 %) studied showed the typical deletion of WBS. CONCLUSION: Study of patients with WBS should be multidisciplinary. Most patients require help during schooling and subsequent vocational guidance.

Adolescent↗
PubMed2003

[Cutaneous hemangiomas, vascular malformations and associated disorders. A new neurocutaneous syndrome].

OBJECTIVE: Cutaneous hemangiomas and vascular malformations constitute a systemic disease that is the most frequent of the neurocutaneous syndromes reported to date. It appears more frequently in women than in men. The aim of this study was to describe the characteristics of this new neurocutaneous syndrome. MATERIAL AND METHODS: We studied a large number of patients who presented cutaneous hemangiomas and/or vascular malformations located anywhere on the body. The patients underwent periodic clinical follow-up and imaging studies due to their aesthetic, functional and/or neurological problems. RESULTS: Clinical evaluation revealed a wide range in the size and severity of cutaneous vascular lesions and in their relationship with various internal anomalies, which were almost always located in the areas underlying the cutaneous vascular lesions. Those situated in the head, face, neck and chest were first discovered and are the best known. The most frequent findings were cerebellar malformations, persistence of the trigeminal artery, absence of the carotid or vertebral arteries and congenital heart disease. Many of the patients with this syndrome had mental retardation or borderline mental retardation. CONCLUSIONS: This disorder appears more frequently in females than in males. It is the most recently described neurocutaneous syndrome and is also the most prevalent. This syndrome is associated with numerous disorders that can be located in the areas underlying the cutaneous vascular lesions anywhere on the body. Cutaneous hemangiomas and subjacent hemangiomatous tumors, like other associated vascular abnormalities, can show a parallel, spontaneous increase or decrease in size without treatment. Complete occlusion of the vessels can occur while vascular malformations show no progression or involution. This new neurocutaneous syndrome is also known as Pascual-Castroviejo type II syndrome and PHACE.

Arteriovenous Malformations↗
PubMed2003

[Proteus syndrome: report of two cases].

Proteus syndrome is a complex disorder, consisting of mesodermal and skeletal malformations as well as hamartomatous overgrowth. It is characterized by highly variable presentation and mosaic-pattern lesions. The two cases described herein illustrate the wide polymorphism of this syndrome. The second case also had a pubic fracture, which we have not previously seen reported in the medical literature on Proteus syndrome.

Abnormalities, Multiple↗
PubMed2003

Cerebellar hypoplasia with heterotopic purkinje cells in the molecular layer and preservation of the granule layers associated with severe encephalopathy. A new entity?

We present the case of an infant girl, born to first cousins, with a clinical phenotype consisting of microcephaly, hypotonia, strabismus and severe psychomotor retardation. Magnetic resonance imaging (MRI) showed global cerebellar atrophy involving the vermis and both hemispheres. The patient's serum transferrin levels were consistently unremarkable. Cerebellar biopsy, performed at 13 months of age, revealed heterotopic Purkinje cells in the molecular layer, but preservation of the external and internal granular layers. To our knowledge, this histological pattern of cerebellar cortical disorganization has not been described previously. The consanguinity of the parents suggests an autosomal recessive inheritance.

Brain Diseases↗
PubMed2003

[Symbiosis between paediatric neurology and neuropsychology: personal experience and the current panorama].

OBJECTIVE: To show the possibilities of child neurologist and neuropsychologist to share the work on many patients with neurological and behavioral pathologies. METHOD: Child neurologists and neuropsychologists have an important work to share in the future. Every expert must know what type of disease corresponds to the knowledge acquired during the studies in the University School as well as to the functions permitted by the authorities, always thinking to get the best results to the patients, the families and the surrounding people.

Attention Deficit Disorder with Hyperactivity↗
PubMed2003

[Extracranial and intracranial vascular abnormalities and nevus of Ota in the same family].

We present a 17 year old patient suffering from hemangioma on the left side of his face and neck. The evolution of his disease has been followed-up since he was 8 1/2 months old. His mother has nevus of Ota in the sclera and adjacent zones in both sides. At the age of 8 1/2 months, the patient had an ischemic stroke in the territory of the left middle cerebral artery during the surgical correction of the aortic arch coarctation. The conventional arteriogram performed at 10 months of life showed several malformations of the intracranial and extracranial arteries. At the age of 16 years the cutaneous hemangioma was atrophic and a new angiographic study by magnetic resonance arteriography (MRA) showed all the vascular anomalies with higher objectivity than the conventional arteriography, especially the absence of some arteries and the abnormal position of some others. Moreover it could detect the decrease of the caliber of the intracranial arteries and the disappearance of hemangiomatous malformations even though the patient had not received any treatment for the cutaneous hemangioma. We think that this syndrome, which still has no definite name, has a parallel spontaneous biological process with progressing vascular size during the first months or years of life and, later, the vessels regress slowly but progressively, leading to a small caliber or even the occlusion of the vessels of the cutaneous hemangioma and of the abnormal extracranial and intracranial arteries. At the same time, there is a slow but progressive presence of transdural collateral vascularization of the brain. We do not find any relationship between the hemangiomatous syndrome of the patient and the nevus of Ota of his mother.

Adolescent↗
PubMed2002

[Effects of corticosteroids in the management of Duchenne muscular dystrophy: our experience].

Objective To evaluate the clinical course in patients with Duchenne muscular dystrophy admitted to our department who received corticosteroid treatment and to compare their course with that in patients who did not receive corticosteroid treatment.Patients and methodsWe performed a retrospective study of 20 pediatric patients with a diagnosis of Duchenne muscular dystrophy who were offered corticosteroid treatment: 10 patients received deflazacort and 10 refused the treatment. The MRC muscular strength scale and Vignos' functional scale were used to evaluate clinical course, which was compared in both groups.ResultsUntreated patients showed progressive worsening. Corticosteroid-treated patients showed disease stabilization both in muscular strength and functional performance. In addition, muscular balance improved in 70 % of these patients, but only 2 % showed functional improvement. The positive effect of steroid treatment had a mean duration of 12 months. Loss of independent gait occurred at similar ages in both groups (10.3 vs. 10.5 years). The results of Achilles' tendon surgery were poor.ConclusionsCorticosteroids produced clinical stabilization and improved muscular strength. Functional improvement was not significant, including loss of gait, probably because this loss also depends on an increase in joint contracture. Good coordination among multiprofessional teams is essential to achieve optimal results.

Adrenal Cortex Hormones↗