RESUMEN
OBJECTIVE: The aim of this prospective study was to assess the prognostic value of electroencephalography in infants born with spina bifida.31 infants with spina bifida born between 2002 and 2007 at the Radboud Nijmegen University Medical Centre were evaluated and followed for 2½ years. Electroencephalography (EEG) was performed during the first 8 weeks after birth. RESULTS: EEG recordings were all within normal limits and showed no abnormalities. 3 of the 31 children showed mild mental disability and major physical disabilities at the age of 30 months. CONCLUSION: Single Infantile EEG recordings are of limited prognostic value for infants born with spina bifida. Serial EEG recordings in combination with other clinical or neurophysiological investigations might ameliorate the contributing predictive value of neonatal EEG.
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Ondas Encefálicas/fisiología , Discapacidades del Desarrollo/fisiopatología , Electroencefalografía , Disrafia Espinal/fisiopatología , Progresión de la Enfermedad , Epilepsia/etiología , Femenino , Humanos , Lactante , Estudios Longitudinales , Masculino , Estudios Retrospectivos , Disrafia Espinal/diagnósticoRESUMEN
Behavioral treatment of drooling is advocated widely, but evidence of its effectiveness is lacking. In a center-based case-series study, 10 participants with severe drooling were taught self-management skills to reduce drooling. Following treatment, all participants remained dry for intervals of 30-60 min, while being engaged in daily activities. Generalization to the classroom occurred in each participant. For three participants, maintenance of treatment effect was established at 6 and 24 weeks. Seven participants failed to maintain self-management skills at follow-up. Although the self-management procedure showed promising results, further adaptations are required to improve efficacy, generalization, and maintenance.
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Terapia Conductista/métodos , Autocuidado/métodos , Sialorrea/terapia , Adolescente , Niño , Femenino , Estudios de Seguimiento , Humanos , Masculino , Tiempo de Reacción , Reproducibilidad de los Resultados , Factores de Tiempo , Resultado del Tratamiento , Adulto JovenRESUMEN
We report a 15-day-old neonate with a brachial plexus neuropathy diagnosed as neuralgic amyotrophy concomitant with an osteomyelitis of the ipsilateral humerus. She was treated with intravenous antibiotics and oral dexamethasone and improved dramatically within days.
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Antibacterianos/uso terapéutico , Antiinflamatorios/uso terapéutico , Neuritis del Plexo Braquial/tratamiento farmacológico , Plexo Braquial/patología , Dexametasona/uso terapéutico , Osteomielitis/tratamiento farmacológico , Antibacterianos/administración & dosificación , Antiinflamatorios/administración & dosificación , Plexo Braquial/microbiología , Neuritis del Plexo Braquial/diagnóstico , Neuritis del Plexo Braquial/patología , Dexametasona/administración & dosificación , Femenino , Humanos , Húmero/patología , Húmero/fisiopatología , Lactante , Osteomielitis/complicaciones , Resultado del TratamientoRESUMEN
OBJECTIVE: To identify clinical, radiologic, or CSF factors that predict conversion to multiple sclerosis (MS) after a first attack of inflammatory demyelination in children. METHODS: In this nationwide retrospective multicenter study in the Netherlands, 117 children below age 16 were included. Fifty-four children presented with a monofocal clinically isolated syndrome (CIS) and 63 children with a polyfocal CIS (PCIS). RESULTS: A second MS-defining attack occurred in 43% of the CIS cases, compared to 21% of the patients with PCIS onset (p < 0.006). Basal ganglia and thalamic lesions and lesions larger than 2 cm on MRI (considered typical of ADEM) were observed during PCIS, irrespective of the presence of encephalopathy. No significant difference in developing MS was found in children with PCIS with or without encephalopathy. Elevated IgG index and presence of oligoclonal CSF bands were more often observed in children who developed MS. Both Barkhof and KIDMUS MRI criteria shared a high specificity and had a high positive predictive value for conversion to MS. In children under the age of 10, the Barkhof criteria had a higher sensitivity than the KIDMUS criteria, but still lower than in older children. CONCLUSIONS: Barkhof and KIDMUS MRI criteria share a high specificity and positive prognostic value for conversion to multiple sclerosis (MS). Sensitivity of these criteria is poor, especially in children below 10 years of age. Basal ganglia lesions can occur in patients who later develop MS. A substantial number of patients presenting with polyfocal onset and no encephalopathy remained monophasic.
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Encefalomielitis Aguda Diseminada/diagnóstico , Encefalomielitis Aguda Diseminada/epidemiología , Imagen por Resonancia Magnética/métodos , Esclerosis Múltiple/diagnóstico , Esclerosis Múltiple/epidemiología , Medición de Riesgo/métodos , Niño , Humanos , Países Bajos/epidemiología , Prevalencia , Pronóstico , Reproducibilidad de los Resultados , Factores de Riesgo , Sensibilidad y EspecificidadRESUMEN
The clinical, neurophysiological and neuroradiological work-up as well as the results of a specific treatment trial are presented of the first patient diagnosed with beta-ureidopropionase deficiency (E.C. 3.5.1.6, McKusick 606673). The patient presented with an early-onset dystonic movement disorder, severe developmental delay with marked impairment of visual responsiveness in combination with severely delayed myelination in magnetic resonance imaging studies. In addition, there were partial optic atrophy, pigmentary retinopathy and mild cerebellar hypoplasia. The enzyme defect was expected to lead to intracerebral deficiency of beta-alanine which seems to be a neuromodulator at inhibitory synapses. Therefore, a therapeutic trial with supplementation of beta-alanine was undertaken over 1.5 years with no convincing clinical improvement.
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Amidohidrolasas/deficiencia , Errores Innatos del Metabolismo de la Purina-Pirimidina/diagnóstico , Errores Innatos del Metabolismo de la Purina-Pirimidina/tratamiento farmacológico , beta-Alanina/administración & dosificación , Electroencefalografía/métodos , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética/métodos , Espectroscopía de Resonancia Magnética/métodos , Errores Innatos del Metabolismo de la Purina-Pirimidina/complicaciones , Errores Innatos del Metabolismo de la Purina-Pirimidina/enzimología , Tomografía Computarizada por Rayos X/métodosRESUMEN
Is 'hopeless and unbearable suffering' a just criterion for the deliberate termination of life of newborns with spina bifida? Hopeless suffering, with no means of alleviation, is not applicable in the acute phase of spina bifida in newborns, but to the chronic suffering that comes later on as the result of pain and discomfort experienced by the patient. There is a need for a nationwide discussion on (a) how can we determine when acute or chronic suffering become hopeless and unbearable, and on what basis should a given situation be regarded as an 'emergency situation'?; (b) what qualifies as a very severe form of spina bifida?; (c) what kind of care should be provided after the decision to withhold active care?
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Toma de Decisiones , Eutanasia Activa/ética , Calidad de Vida , Disrafia Espinal/complicaciones , Privación de Tratamiento/ética , Ética Médica , Humanos , Recién Nacido , Países BajosRESUMEN
OBJECTIVE: To investigate the effectiveness of botulinum neurotoxin (BoNT) type A in reducing salivary flow rate in children with cerebral palsy (CP) with severe drooling. METHODS: During a controlled clinical trial, single-dose BoNT injections into the submandibular salivary glands were compared with scopolamine treatment. Forty-five school-aged children were included. Salivary flow rates from all major glands were obtained at baseline and compared with measurements during the interventions. Basic statistics consisted of analysis of difference scores. RESULTS: Compared with baseline, the mean decrease in submandibular flow was 25% during scopolamine and 42% following BoNT injections. The difference scores were significant with maximum reductions 2, 4, and 8 weeks following BoNT. Of all children, 95% responded during scopolamine. Response rates for BoNT were significantly lower and varied from 69% at 2 weeks to 49% at 24 weeks after injection (the end of the study). Four patients discontinued scopolamine therapy because of side effects. Only incidentally mild side effects were reported from BoNT. CONCLUSIONS: Intraglandular BoNT injections significantly reduce salivary flow rate in the majority of drooling CP children, demonstrating high response rates up to 24 weeks. The procedure is simple to perform, effective, and safe when ultrasound guidance is used. The anticholinergic effect of BoNT exceeds that of scopolamine. As anticholinergic drugs are frequently contraindicated because of side effects, BoNT injections offer an alternative in the treatment of drooling.
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Toxinas Botulínicas Tipo A/administración & dosificación , Parálisis Cerebral/complicaciones , Glándulas Salivales/efectos de los fármacos , Sialorrea/tratamiento farmacológico , Adolescente , Niño , Preescolar , Antagonistas Colinérgicos/administración & dosificación , Esquema de Medicación , Femenino , Humanos , Masculino , Antagonistas Muscarínicos/administración & dosificación , Saliva/efectos de los fármacos , Saliva/metabolismo , Glándulas Salivales/diagnóstico por imagen , Glándulas Salivales/fisiopatología , Escopolamina/administración & dosificación , Sialorrea/etiología , Sialorrea/fisiopatología , Glándula Submandibular/diagnóstico por imagen , Glándula Submandibular/efectos de los fármacos , Glándula Submandibular/fisiopatología , Resultado del Tratamiento , UltrasonografíaRESUMEN
Frontal ataxia may be the result of a unilateral frontal lesion. In this report three cases are presented with ataxia due to right frontal lesions. One case concerns a boy presenting with an unsteady gait and titubation of the trunk, mimicking developmental disequilibrium and with complex partial seizures. It proved to be caused by a small right-sided cavernoma in the middle frontal gyrus. After surgical intervention the symptoms and the seizures disappeared. Two subsequent cases concern teenage patients presenting with headache after an ENT infection and on physical examination mild dysmetric function of the upper limbs and slight disequilibrium, due to right-sided frontal lobe abscesses. After neurosurgical and antibiotic therapy the symptoms were relieved. The frontal origin of ataxia should be considered in children presenting with a "cerebellar syndrome". Frontal gait disorders consist of a clinical pattern of different gait disorders. The syndrome has been mentioned in the literature under different names. Our patients show signs compatible with the term frontal disequilibrium, a clinical pattern of frontal gait disorder. This assumes walking problems characterized by loss of control of motor planning, leading to imbalance. Remarkably, frontal ataxia may mimic developmental delay as demonstrated in the first case and may be the leading mild symptom in extensive frontal lobe damage as demonstrated by the two other cases. We suppose that frontal ataxia is the result of a disturbance in the cerebellar-frontal circuitries and an impairment of executive and planning functions of the basal ganglia-frontal lobe circuitry.
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Absceso Encefálico/complicaciones , Neoplasias Encefálicas/complicaciones , Apraxia de la Marcha/etiología , Hemangioma Cavernoso del Sistema Nervioso Central/complicaciones , Adolescente , Niño , Preescolar , Femenino , Lóbulo Frontal/microbiología , Lóbulo Frontal/patología , Humanos , Masculino , Infecciones Neumocócicas/complicaciones , Infecciones Estreptocócicas/complicaciones , Streptococcus milleri (Grupo)RESUMEN
Drooling frequently occurs in children with multiple handicaps; application of anticholinergic drugs is a potential strategy to treat drooling. A computer aided search of original studies concerning the treatment of drooling was carried out. The methodological and statistical integrity of the identified studies were assessed with previously defined criteria. The articles were weighed for their separate contribution to the evidence. The search resulted in 64 reports, of which seven studies passed the screening and were subjected to further assessment and discussion by three referees. Because of the small number of reports and the methodological restriction within the studies, no meta-analysis could be performed. No general conclusion could be made about the efficacy of anticholinergic drugs in treatment of drooling in children with multiple handicaps. There was some evidence that three anticholinergic drugs (benztropine, glycopyrrolate, and benzhexol hydrochloride) are effective in the treatment of drooling, but it could not be concluded that one drug is preferable.
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Antagonistas Colinérgicos/uso terapéutico , Sialorrea/tratamiento farmacológico , Niño , Niños con Discapacidad , Humanos , Ensayos Clínicos Controlados Aleatorios como Asunto , Proyectos de Investigación , Resultado del TratamientoRESUMEN
Homovanillic acid (HVA) is a metabolite of dopamine, reflecting central dopamine metabolism, primarily situated in the striatum. Low HVA concentrations in the cerebrospinal fluid (CSF) may indicate metabolic deficiencies in the pathways of the biosynthesis or catabolism of dopamine. In this retrospective study, we investigated the clinical presentation of patients whose HVA concentration in the CSF had been determined routinely after spinal taps for a variety of clinical reasons. A decrease of HVA concentration in the CSF, due to a defect in the biosynthesis or reuptake of dopamine, is expected to cause extrapyramidal features. However, we found a remarkable variability in the clinical symptoms. Similarly, a decreased HVA concentration in the CSF failed to coincide with specific abnormalities at neuroimaging. In view of the diversity of the clinical presentation and in the absence of specific enzyme deficiencies, a decrease of HVA may be due to dysfunction of dopamine neurons, not resulting in specific extrapyramidal symptoms. Thus, with the exception of diseases associated with a specific enzyme deficiency in the metabolic pathways involving dopamine, a decrease of HVA concentration in the CSF is mainly a secondary or epiphenomenon in a variety of clinical conditions.
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Encefalopatías/metabolismo , Dopamina/metabolismo , Ácido Homovanílico/líquido cefalorraquídeo , Adolescente , Factores de Edad , Encefalopatías/líquido cefalorraquídeo , Encefalopatías/diagnóstico por imagen , Niño , Preescolar , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Estudios Retrospectivos , Tomografía Computarizada por Rayos XAsunto(s)
Enfermedades del Sistema Nervioso/genética , Parálisis/genética , Preescolar , Electrofisiología , Humanos , Masculino , Enfermedades del Sistema Nervioso/complicaciones , Enfermedades del Sistema Nervioso/diagnóstico , Conducción Nerviosa/fisiología , Examen Neurológico , Parálisis/diagnóstico , Parálisis/etiologíaRESUMEN
We describe the clinical and neuropathological presentation of a male with an MECP2 mutation whose sister has Rett syndrome (RS). He presented with severe neonatal encephalopathy and died at the age of 13 months. Mutation analysis of the MECP2 gene demonstrated a 488 - 489 del mutation in his and his sister's copies of the gene. Post mortem examination revealed bilateral polymicrogyria in the perisylvian region. This malformation was visibly more severe than previously described in females with RS and another male with an MECP2 mutation. As bilateral polymicrogyria was described in congenital perisylvian syndrome, the presented patient could be regarded as having suffered from a severe form of this syndrome. We conclude that MECP2 screening should be considered in males with severe neonatal encephalopathy and in males and females with a bilateral polymicrogyria syndrome.
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Encefalopatías/congénito , Encefalopatías/genética , Proteínas Cromosómicas no Histona , Proteínas de Unión al ADN/genética , Mutación/genética , Proteínas Represoras , Síndrome de Rett/genética , Encefalopatías/patología , Humanos , Lactante , Masculino , Proteína 2 de Unión a Metil-CpG , Síndrome de Rett/patología , Índice de Severidad de la EnfermedadRESUMEN
UNLABELLED: Drooling beyond the age of 4 years is pathological, particularly if it occurs in children with neurological and developmental impairment and disability. Considering the therapeutic spectrum of botulinum toxin A and in view of the innervation of the salivary glands, we postulated that intraglandular injections into the submandibular glands with botulinum toxin A could reduce the secretion of saliva and consequently decrease drooling. Three patients with cerebral palsy and severe drooling were selected and evaluated over a 4-month period. Under ultrasound guidance, one dose of botulinum toxin A was injected bilaterally into the submandibular glands. Saliva secretion was measured at baseline and repeated four times during the following 4 months. In the three patients, maximal salivary flow rate of the sublingual and submandibular glands was reduced by 51% to 63%. The time of the maximal effect differed among the three children. The parents reported a satisfactory reduction of drooling throughout the whole study period. No objectionable disturbances of oral functions were observed. There was mild transient thickening of saliva in one of the patients. CONCLUSION: The application of botulinum toxin A to the submandibular gland is a promising technique to reduce salivary flow rate and probably an alternative in the treatment of drooling in children with cerebral palsy.
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Toxinas Botulínicas Tipo A/uso terapéutico , Parálisis Cerebral/complicaciones , Fármacos Neuromusculares/uso terapéutico , Sialorrea/tratamiento farmacológico , Adolescente , Toxinas Botulínicas Tipo A/administración & dosificación , Niño , Femenino , Humanos , Inyecciones Intralesiones , Masculino , Fármacos Neuromusculares/administración & dosificación , Salivación/efectos de los fármacos , Sialorrea/etiologíaRESUMEN
Sjögren-Larsson syndrome (SLS) is an autosomal recessively inherited neurocutaneous disorder caused by a deficiency of the microsomal enzyme fatty aldehyde dehydrogenase (FALDH). We report the clinical characteristics and the results of molecular studies in 19 SLS patients. Patients 1-17 show the classical triad of severe clinical abnormalities including ichthyosis, mental retardation and spasticity. Most patients were born preterm, and all patients exhibit ocular abnormalities and pruritus. Electro-encephalography shows a slow background activity, without other abnormalities. MRI of the brain shows an arrest of myelination, periventricular signal abnormalities of white matter and mild ventricular enlargement. Cerebral (1)H-MR spectroscopy reveals a characteristic, abnormal lipid peak. The degree of white matter abnormality in the MRIs and the height of the lipid peak in (1)H-MR spectra do not correlate with the severity of the neurological signs. The clinical presentation and the clinical course is strikingly similar in these patients. Patient 18 shows a mild phenotype that essentially contains the same, but less severe, clinical features. Patient 19 exhibits the typical, but very mild, dermatological and ocular abnormalities, without any clinical neurological involvement. The diagnosis of SLS was confirmed by demonstration of the enzyme defect in cultured skin fibroblasts. Furthermore, as might be predicted from the essential role of FALDH in leucotriene B(4) (LTB(4)) metabolism, elevated urinary concentrations of LTB(4) and 20-OH-LTB(4) were found in all patients studied. Molecular studies of the FALDH gene revealed eight different mutations, including three new ones: a large 26-base pair deletion (21-46del), a missense mutation (80C-->T) and an insertion mutation (487-488insA). The vast majority of SLS patients seem to be severely affected independent of their genotype.
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Aldehído Oxidorreductasas/genética , Leucotrieno B4/análogos & derivados , Síndrome de Sjögren-Larsson/diagnóstico , Síndrome de Sjögren-Larsson/genética , Adolescente , Adulto , Aldehído Oxidorreductasas/deficiencia , Encéfalo/patología , Encéfalo/fisiopatología , Células Cultivadas , Líquido Cefalorraquídeo/citología , Niño , Preescolar , Análisis Mutacional de ADN , Electroencefalografía , Femenino , Fibroblastos/enzimología , Fibroblastos/patología , Humanos , Ictiosis/diagnóstico , Discapacidad Intelectual/diagnóstico , Leucotrieno B4/orina , Imagen por Resonancia Magnética , Espectroscopía de Resonancia Magnética , Masculino , Persona de Mediana Edad , Espasticidad Muscular/diagnóstico , Países Bajos , Fenotipo , Homología de Secuencia de Aminoácido , Síndrome de Sjögren-Larsson/metabolismo , Turquía , Población Blanca/genéticaRESUMEN
Activated glial cells play an important role in a variety of neurological disorders. This study examines S100B protein levels in the serum of patients with Gilles de la Tourette syndrome, as potential marker for glial cell function. Two groups of children were examined: 61 reference patients and 33 patients with Gilles de la Tourette syndrome. It was found that S100B serum concentrations in the reference group decrease with increasing age. Furthermore it was found that the mean S100B concentration in serum of children with Gilles de la Tourette syndrome is significantly higher than in the reference group. These preliminary results suggest that glial tissue might be involved in the pathophysiology of the syndrome.
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Proteínas de Unión al Calcio/sangre , Factores de Crecimiento Nervioso/sangre , Neuroglía/fisiología , Proteínas S100 , Síndrome de Tourette/diagnóstico , Adolescente , Adulto , Biomarcadores/sangre , Niño , Preescolar , Femenino , Humanos , Masculino , Valores de Referencia , Subunidad beta de la Proteína de Unión al Calcio S100 , Síndrome de Tourette/fisiopatologíaRESUMEN
The Sjögren-Larsson Syndrome (SLS) is a neurocutaneous disorder, caused by deficient activity of the microsomal enzyme fatty aldehyde dehydrogenase (FALDH). FALDH catalyzes the oxidation of medium- and long-chain fatty aldehydes to their corresponding carboxylic acids. SLS is diagnosed by demonstrating the enzyme deficiency or by mutation analysis of the FALDH gene, while laboratory investigations of plasma, urine, and cerebrospinal fluid do not reveal any diagnostic abnormality. Leukotriene (LT) B4 is a pro-inflammatory mediator synthesized from arachidonic acid. LTB4 is inactivated by microsomal omega-oxidation, successively yielding 20-OH-LTB4, 20-CHO-LTB4 and 20-COOH-LTB4. Since FALDH is involved in LTB4 degradation, we have analyzed LTB4 and its metabolites in urine and cerebrospinal fluid as well as the degradation capacity for LTB4 in fresh polymorphonuclear leukocytes (PMN) of SLS patients. The urinary concentrations of LTB4, 20-OH-LTB4 and 20-COOH-LTB4 are below the detection limit in healthy controls. The urine of all SLS patients (n=13) exhibited highly elevated concentrations of LTB4 and 20-OH-LTB4, while 20-COOH-LTB4 was absent. Cerebrospinal fluid levels of LTB4, 20-OH-LTB4 and 20-COOH-LTB4 were found to be normal (n=7). PMN isolated from four patients were shown to be unable to convert 20-OH-LTB4 to 20-COOH-LTB4. Our findings provide unambiguous evidence for defective LTB4 degradation in SLS patients, and offer new and non-invasive diagnostic tools. Moreover, they open new pathophysiological considerations, with the prospect of rational treatment strategies.
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Oxidorreductasas de Alcohol/metabolismo , Leucotrieno B4/metabolismo , Síndrome de Sjögren-Larsson/enzimología , Adolescente , Ácido Araquidónico/metabolismo , Niño , Preescolar , Humanos , Ácidos Hidroxieicosatetraenoicos , Leucotrieno B4/análogos & derivadosRESUMEN
UNLABELLED: The Sjögren-Larsson syndrome (SLS) is an inborn error of lipid metabolism, characterised clinically by congenital ichthyosis, mental retardation and spasticity. Patients also suffer from severe pruritus. The degradation of leukotriene (LT) B4 is one of the defective metabolic routes in SLS. Zileuton inhibits the synthesis of LTB4 and the cysteinyl leukotrienes. Five SLS patients were treated with zileuton for 3 months. Favourable effects were found on pruritus score (P = 0.006), general well-being, and background activity of electroencephalographic studies. Neuropsychological test results did not change significantly. There was, however, a clinically important trend towards improvement in the speed of information processing. Results of cerebral MRI and proton magnetic resonance spectroscopy did not change during therapy. Urinary concentrations of LTB4 and omega-OH-LTB4 decreased significantly (P=0.02 and P=0.003 respectively), while their concentrations in CSF were normal at baseline and remained so after therapy. CONCLUSION: Patients with Sjögren-Larsson syndrome might benefit from treatment with zileuton, especially with respect to the agonising pruritus. The findings reported here, point to a crucial role for leukotriene B4 in the pathogenesis of pruritus.
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Hidroxiurea/análogos & derivados , Hidroxiurea/uso terapéutico , Inhibidores de la Lipooxigenasa/uso terapéutico , Síndrome de Sjögren-Larsson/tratamiento farmacológico , Adolescente , Adulto , Encéfalo/patología , Electroencefalografía , Femenino , Humanos , Hidroxiurea/metabolismo , Inhibidores de la Lipooxigenasa/metabolismo , Imagen por Resonancia Magnética , Espectroscopía de Resonancia Magnética , Masculino , Pruebas Neuropsicológicas , Síndrome de Sjögren-Larsson/diagnóstico , Síndrome de Sjögren-Larsson/metabolismoRESUMEN
PURPOSE: To report the ocular manifestations associated with the Sjögren-Larsson syndrome in a series of patients with proven fatty aldehyde dehydrogenase deficiency. To emphasize the clinical importance of the ophthalmological features of the Sjögren-Larsson syndrome. To discuss the metabolic disturbances that might give rise to the ophthalmological picture. METHODS: Fifteen patients with Sjögren-Larsson syndrome underwent a standardized ophthalmological examination. In patients of appropriate age, and who were able to cooperate, additional investigations were performed. RESULTS: All patients exhibited bilateral, glistening yellow-white crystalline deposits that were located in the innermost retinal layers and appeared during the first 2 years of life. Repeated fundus photography in individual patients showed that the dots became more numerous as the patients got older. Photophobia, subnormal visual acuity, myopia, and astigmatism were found in most of the patients. Fluorescein angiography was performed in three patients and showed a mottled hyperfluorescence of the retinal pigment epithelium, without leakage. Color vision, electroretinography, and electro-oculography could be performed in only a small number of patients and showed no abnormalities. Visual evoked potentials were found to be abnormal in six of eight patients. CONCLUSIONS: In Sjögren-Larsson syndrome, patients exhibit highly characteristic bilateral, glistening yellow-white retinal dots from the age of 1 to 2 years onward. The number of dots increases with age. The extent of the macular abnormality does not correlate with the severity of the ichthyosis or with the severity of the neurological abnormalities. A high percentage of patients shows additional ocular signs and symptoms, notably marked photophobia.
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Aldehído Oxidorreductasas/deficiencia , Degeneración Macular/enzimología , Síndrome de Sjögren-Larsson/enzimología , Adolescente , Adulto , Astigmatismo/diagnóstico , Niño , Preescolar , Electrorretinografía , Potenciales Evocados Visuales , Femenino , Angiografía con Fluoresceína , Fondo de Ojo , Humanos , Lactante , Degeneración Macular/diagnóstico , Masculino , Errores Innatos del Metabolismo/genética , Miopía/diagnóstico , Fotofobia/diagnóstico , Síndrome de Sjögren-Larsson/diagnóstico , Agudeza VisualRESUMEN
The goal of this study was to develop a calibrated on-line technique to extract as much diagnostically-relevant information as possible from conventional video-format echograms. The final aim is to improve the diagnostic potentials of medical ultrasound. Video-output images were acquired by a frame grabber board incorporated in a multiprocessor workstation. Calibration images were obtained from a stable tissue-mimicking phantom with known acoustic characteristics. Using these images as reference, depth dependence of the gray level could fairly be corrected for the transducer performance characteristics, for the observer-dependent equipment settings and for attenuation in the examined tissues. Second-order statistical parameters still displayed some nonconsistent depth dependencies. The results obtained with two echoscanners for the same phantom were different; hence, an a posteriori normalization of clinical data with the phantom data is indicated. Prior to processing of clinical echograms,. the anatomical reflections and echoless voids were removed automatically. The final step in the preprocessing concerned the compensation of the overall attenuation in the tissue. A 'sliding window' processing was then applied to a region of interest (ROI) in the 'back-scan converted' images. A number of first and second order statistical texture parameters and acoustical parameters were estimated in each window and assigned to the central pixel. This procedure results in a set of new 'parametric' images of the ROI, which can be inserted in the original echogram (gray value, color) or presented as a color overlay. A clinical example is presented for illustrating the potentials of the developed technique. Depending on the choice of the parameters, four full resolution calibrated parametric images can be calculated and simultaneously displayed within 5 to 20 seconds. In conclusion, an on-line technique has been developed to estimate acoustic and texture parameters with a reduced equipment dependence and to display acoustical and textural information that is present in conventional echograms.
Asunto(s)
Ecoencefalografía/métodos , Procesamiento de Imagen Asistido por Computador , Acústica , Calibración , Humanos , Recién Nacido , Fantasmas de Imagen , UltrasonidoRESUMEN
The Sjögren-Larsson syndrome (SLS) is a severe neurocutaneous disorder due to fatty aldehyde dehydrogenase (FALDH) deficiency. The recent discovery of the role of FALDH in the degradation of leukotriene B4 (LTB4) opened the way to the development of a new therapeutic strategy for SLS, i.e. 5-lipoxygenase inhibition. We treated one SLS patient with zileuton during five weeks. During the treatment period we found decreased values of LTB4 and omega-OH-LTB4. The severity of the pruritus diminished, and favorable changes in the child's behavior were observed. The height of the prominent "lipid peak" of cerebral white matter (that is characteristically found on proton magnetic resonance spectroscopy in SLS patients) decreased during treatment, and increased again when treatment was stopped. In conclusion, the beneficial effects of 5-lipoxygenase inhibition in SLS are very promising and encourage further research.