R Palencia

Hospital Universitario La Paz, Madrid, Madrid, Spain

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Publications (10)12.32 Total impact

  • Revista de neurologia 01/2011; 52(1):56-7. · 1.18 Impact Factor
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    ABSTRACT: The association of persistent embryonic arteries and the absence of 1 carotid or vertebral arteries with facial or neck hemangioma or vascular malformation have been frequently described. The abnormalities can involve major or minor vessels. Of 22 patients of our series with this neurocutaneous syndrome, 20 had the origin of both anterior cerebral arteries from the same internal carotid artery. Thirteen patients showed absence or hypoplasia of 1 carotid artery and 10 of 1 vertebral artery; 10 showed persistence of the trigeminal artery; 3 had persistent proatlantal artery; 6 showed the absence of the posterior communicating artery; and 4 had hypoplastic posterior cerebral artery. Other less frequent abnormalities were found in 7 patients. Intellectual level of most patients was either borderline or below normal. Abnormalities in the vascularization and perfusion of the frontal lobes may contribute to the borderline or lower mental level of these patients.
    Journal of child neurology 10/2009; 25(5):587-98. · 1.59 Impact Factor
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    ABSTRACT: Plexiform neurofibroma in any location is one of the commonest complications associated with neurofibromatosis type 1 (NF1). Plexiform neurofibroma of the upper eyelid and orbit is usually associated with ipsilateral hemifacial hyperplasia. We present four patients with NF1 and plexiform neurofibroma of the eyelid and orbit associated with hemifacial hyperplasia, who also showed hyperplasia of the unilateral cerebral hemisphere. There are four patients, three females and one male, who consulted because of NF1 with plexiform neurofibroma of upper eyelid and hemifacial hyperplasia. Upper eyelid involvement was observed since birth and progressed during the first years of life. The patients showed normal neurological and mental development without motor or cerebellar disorders. Magnetic resonance studies demonstrated the asymmetric hyperplasia of the ipsilateral hemisphere in all four cases and of the cerebellar hemisphere in one case. The degree of hemispheric hyperplasia was related to the size and extension of the plexiform neurofibroma, as well as to the severity of the hemifacial hyperplasia. In our case which had the plexiform neurofibroma extended to the neck and the upper thorax, the hyperplasia not only affected the cerebral hemisphere but also the ipsilateral cerebellar hemisphere. All parts of the hemisphere showed increased size. The cortex of the entire hemisphere showed normal differentiation of the subcortical white matter. NF1 appears to be related with facial and cerebral ipsilateral hemihyperplasia. The relation between the size and extension of the orbital, eyelid and facial plexiform neurofibroma and the degree of asymmetry of the hemispheric hyperplasia suggest that different influences of a still unknown agent, possibly a gene, obviously related to NF1, causes both the intracranial and extracranial abnormalities.
    Revista de neurologia 01/2006; 43(6):346-52. · 1.18 Impact Factor
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    ABSTRACT: To present 18 cases of Kabuki make-up syndrome with the associated morphological and neurological alterations. The series consists of 18 patients, 14 males and 4 females, who show the peculiar facial morphology of this disease. Ten cases were studied between 1968 and 1978, before the description of the syndrome. Most of these patients are now over 30 years and two perhaps surmounting the 40, if surviving. The other 8 cases were studied during the last 20 years (a few within the last 3 years). The studies of the patients were anamnesis with genetic history, EEG, image, cytogenetic, laboratory studies, and mental evaluation when the patients collaborated. The most important findings are the peculiar facial characteristics as well as the psychomotor and language retardation, the persistent fingertip pads and clinodactyly that were observed in all patients. Other studies, such as EEG, caryotype, biochemical investigation in blood, urine and CSF (in the studied cases), and the cerebral neuroradiological images (pneumoencephalography, CT or MR) disclosed normal results. None of the patients of this series were neurologically normal. Hyperactivity, respiratory infection and/or otitis were frequently observed. Kabuki make-up syndrome is a dysmorphologic and neurological disease of unknown origin. Its main manifestations involve facial appearance and brain function without anatomical anomalies. None of the patients was sent to the Pediatric Neurology service with the suspicion of Kabuki make-up syndrome.
    Revista de neurologia 01/2005; 40(8):473-8. · 1.18 Impact Factor
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    ABSTRACT: To describe the clinical, diagnostic and therapeutic features of this angiomatous neurocutaneous syndrome, which is the most frequent one, and to report a personal series of 41 patients. Forty one patients--31 females and 10 males--were studied during childhood and then, several patients were followed during many years, which allowed us to learn about the evolution of the abnormalities. The cutaneous lesions were classified as hemangiomas in 30 patients (73%) and as vascular malformations in 11 patients (27%). A cerebellar anomaly (unilateral hemispheric hypoplasia and Dandy-Walker malformation) was seen in 13 patients (31.5%) cerebral cortical dysplasia in 4 patients (10%), aortic arch coarctation in 6 patients (15%), and congenital cardiopathy in 5 patients (12%). The most frequent abnormalities were intracranial and/or extracranial vascular malformations. Persistence of the trigeminal artery was observed in 7 patients (17%), absence or severe hypoplasia of an internal carotid artery in 13 patients (32%), absence of a vertebral artery in 7 patients (17%), hypoplasia of intracranial arteries in 6 patients (15%) and aneurysmal enlargement of carotid or vertebral arteries in 5 patients (12%). Also were observed 4 patients (10%) with intracranial hemangioma, 2 (5%) with hemangioma in mediastinum, and 3 (7.5%) with intestinal hemangioma, all of which disappeared during the first years of life. Aneurysmal enlargement of the carotid and vertebral arteries and intracranial branches also disappeared after a process of progressive narrowing of the arterial lumen that caused complete obstruction of these arteries. At the same time the cutaneous hemangioma regressed. During this process, collateral vascularization through branches of the external carotid artery and of the non-affected branches of the contralateral intracranial arteries developed. This neurocutaneous syndrome is the most frequent one and it is associated with several types of vascular and non-vascular abnormalities which can involve any organ of the body. Internal and external hemangiomas and hemangiomatous lesions progress and tend to regress concomitantly.
    Revista de neurologia 01/2005; 41(4):223-36. · 1.18 Impact Factor
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    ABSTRACT: We describe a series of 13 patients, ten males and three females, with ages ranging between three and fourteen years, who show unilateral polymicrogyria (in the left cerebral hemisphere in four cases and in the right in nine). The first and the main clinical alteration in all 13 cases was hemiparesis that did not change along the years. Ten patients had seizures that were completely controlled in seven. Three cases never presented seizures. Spontaneous threat of abortion or arterial hypertension during the first five months of pregnancy occurred in five cases. Weight less than 3 kg at birth was observed in six cases. The only patient who shows severe mental retardation associated with deafness is a girl who had infantile spasms at 20 days of age and presents duplication of a short arm of the chromosome X. Conventional magnetic resonance (MR) studies, performed in four cases did not disclose polymicrogyria but only an enlarged cortex that was diagnosed as cortical dysplasia. Three-dimensional MR (3DMR) images are very important not only to see the polymicrogyria, but also its extension and severity, especially if, moreover the axial, coronal and sagittal views, oblique, frontal, occipital, basal and superior images of the hemispheric cortical surface are performed.
    Brain and Development 08/2001; · 1.67 Impact Factor
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    ABSTRACT: To describe the vascular and nonvascular intracranial and extracranial anomalies associated with hemangiomas and vascular malformations of the face, neck, and/or chest. Seventeen patients had a physical examination and imaging studies consisting of one or more of the following: pneumoencephalography, conventional carotid and vertebral arteriography, CT, MR imaging, and MR angiography. Conventional arteriography revealed persistence of the trigeminal artery in 5 cases, absence of internal or external carotid and/or vertebral arteries in 11 cases, persistence of intervertebral arteries in 1 case, deformities of the aortic arch in 3 cases, and anomalies of the intracranial arteries in 3 cases. MR angiography revealed persistence of the trigeminal artery in 1 case in which conventional arteriography failed to show the malformation, and permitted visualization of narrowing of the intracranial arteries. CT and MR imaging showed a cerebellar anomaly in 8 cases and cerebral cortical dysplasia with cerebral hemispheric hypoplasia in 1 case. Vascular and nonvascular anomalies appeared ipsilateral to the external vascular abnormalities in most cases. This study demonstrates the association of cutaneous angiomas with anomalies affecting intracranial and extracranial arteries, the cerebellum, and, less frequently, the cerebral hemispheres and aortic arch. This association constitutes a relatively frequent neurocutaneous disorder, which we call the cutaneous hemangioma-vascular complex syndrome.
    American Journal of Neuroradiology 04/1996; 17(3):461-71. · 3.17 Impact Factor
  • Anales espanoles de pediatria 12/1990; 33 Suppl 43:273-5.
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    ABSTRACT: Aim. To present 18 cases of Kabuki make-up syndrome with the associated morphological and neurological alterations. Case reports. The series consists of 18 patients, 14 males and 4 females, who show the peculiar facial morphology of this disease. Ten cases were studied between 1968 and 1978, before the description of the síndrome. Most of these patients are now over 30 years and two perhaps surmounting the 40, if surviving. The other 8 cases were studied during the last 20 years (a few within the last 3 years). The studies of the patients were anamnesis with genetic history, EEG, image, cytogenetic, laboratory studies, and mental evaluation when the patients collaborated. The most important findings are the peculiar facial characteristics as well as the psychomotor and language retardation, the persistent fingertip pads and clinodactily that were observed in all patients. Other studies, such as EEG, caryotype, biochemical investigation in blood, urine and CSF (in the studied cases), and the cerebral neuroradiological images (pneumoencephalography, CT or MR) disclosed normal results. None of the patients of this series were neurologically normal. Hyperactivity, respiratory infection and/or otitis were frequently observed. Conclusion. Kabuki make-up syndrome is a dysmorphologic and neurological disease of unknown origin. Its main manifestations involve facial appearance and brain function without anatomical anomalies. None of the patients was sent to the Pediatric Neurology service with the suspicion of Kabuki make-up syndrome. (REV NEUROL 2005; 40: 473-8)
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    ABSTRACT: To show the disorders of the brain cortical development and the possible origin in base to a large series studied in a Pediatric Neurology service. A series of 144 children with ages ranging between newborn and 12 years was studied from the clinic, image (MR, 3DMR) and evolutive point of views. The diagnosis was: polymicrogyria in 61 cases, lissencephaly in 22, eschizencephaly in 16, heterotopia in 16, cortical dysplasia in 9, hemimegalencephaly in 8, cobblestone in 7, sublobar dysplasia in 3, and 'double cortex' in 2. Mental retardation, motor disorders and epilepsy were the most important anomalies. Actually, the image is the most important study to make the diagnosis of every type of cerebral malformation. However, to know the specific gene that origin every disorder seems to be the most important thing to make the classification of every malformative type and the possible prevention of this pathology.
    Revista de neurologia 37(4):327-44. · 1.18 Impact Factor