ABSTRACT
No disponible
Subject(s)
Humans , Male , Female , Child, Preschool , Glutens/adverse effects , Autistic Disorder/complications , Celiac Disease/epidemiology , Transglutaminases/antagonists & inhibitors , Milk Hypersensitivity/epidemiology , Milk Proteins/adverse effectsSubject(s)
Epilepsy, Generalized/diagnosis , Epilepsy, Generalized/physiopathology , Functional Laterality/physiology , Occipital Lobe/physiopathology , Ocular Motility Disorders/diagnosis , Temporal Lobe/physiopathology , Vomiting/diagnosis , Child , Child, Preschool , Diagnosis, Differential , Electroencephalography , Humans , Male , Periodicity , SyndromeABSTRACT
No disponible
Subject(s)
Male , Child , Child, Preschool , Humans , Epilepsy, Generalized/diagnosis , Epilepsy, Generalized/physiopathology , Occipital Lobe/physiopathology , Ocular Motility Disorders/diagnosis , Functional Laterality/physiology , Vomiting/diagnosis , Diagnosis, Differential , Electroencephalography , Periodicity , SyndromeABSTRACT
No disponible
Subject(s)
Child, Preschool , Male , Humans , Syndrome , Microcephaly , Intellectual Disability , ChorioretinitisABSTRACT
INTRODUCTION: Headache is the commonest clinical symptom during childhood and adolescence, from a neurologist s point of view. The pathophysiology of migraine and tension headache involve personality and biochemical factors, such as serotonin, which are also common in coeliac disease. OBJECTIVE: To establish the prevalence of headache in children and adolescents with coeliac disease, and any possible relation between these conditions. PATIENTS AND METHODS: We made a randomized selection of 86 patients with coeliac disease. All were on gluten-free diets and had no current gastroenterological symptoms. They had direct interviews and full physical and neurological examinations. The diagnosis of headache was based on criteria of the International Headache Society in 1988. RESULTS: The average age was 12.71 +/- 4.5 years (range 5-24). Headache occurred in 34 (39.5%) of the 86 patients studied. In 18 cases (20.9%) headache was of tension type and in 16 (18.6%) of migraine type. Of the latter, 10 cases had auras and 6 did not. There was no significant sex difference. CONCLUSIONS: An increased prevalence of both migraine and tension headaches was observed in the coeliac patients studied as compared with data published in the literature. In the former patients there was also a lower frequency in histories of migraine in first degree family members. This data is probably related to the personality of the patient or to his family or social circumstances in the case of tension headaches. In the case of migraine it may be due to biochemical factors such as a lowered plasma serotonin, seen both in coeliac disease and in migraine.
Subject(s)
Celiac Disease/epidemiology , Headache/epidemiology , Adolescent , Adult , Blood Vessels/innervation , Celiac Disease/blood , Celiac Disease/diet therapy , Celiac Disease/physiopathology , Child , Child, Preschool , Comorbidity , Cross-Sectional Studies , Depression , Female , Humans , Male , Migraine with Aura/epidemiology , Migraine with Aura/physiopathology , Migraine without Aura/epidemiology , Migraine without Aura/physiopathology , Muscle Contraction , Personality , Prevalence , Serotonin/blood , Serotonin/deficiency , Spain/epidemiology , Tension-Type Headache/epidemiology , VasodilationABSTRACT
OBJECTIVE: The objective of this study was to analyze the diagnosis of HPRT deficiency, perform a thorough purine metabolism study and to establish the carrier and prenatal diagnosis in 16 HPRT deficient families. PATIENTS AND METHODS: Plasma and urinary concentrations of uric acid, creatinine and oxypurines, APRT and HPRT activities in hemolysates and HPRT in intact erythrocytes and adenine 8-C14 urinary excretion were analyzed. Carrier diagnosis was made by hair root enzyme analysis and genetic studies. RESULTS: These studies allowed the diagnosis of HPRT deficiency in 20 patients. Carrier diagnosis could be performed in 23 women at risk and in a 9 week old female fetus. CONCLUSIONS: The study results suggest that HPRT deficiency accounts for increased purine nucleotide degradation. This increase results in elevated urinary and plasma concentrations of hypoxanthine, xanthine and uric acid. The clinical severity of the disease is not related to the degree of urinary or plasma concentrations of oxypurines. Hair root analysis generally allows the diagnosis of carrier status, but the carrier state cannot be fully excluded in women at risk. When the familial mutation causing the defect in HPRT is known, analysis of the differences in the restriction pattern of the HPRT gene (natural or due to directed mutagenesis) allow a rapid and reliable diagnosis of carrier status and HPRT deficiency.
Subject(s)
Deficiency Diseases/genetics , Hypoxanthine Phosphoribosyltransferase/deficiency , Carrier State , Deficiency Diseases/diagnosis , Female , Fetal Diseases/diagnosis , Fetal Diseases/genetics , Humans , Hypoxanthine Phosphoribosyltransferase/blood , Hypoxanthine Phosphoribosyltransferase/urine , Pedigree , Pregnancy , Prenatal Diagnosis , Purine-Pyrimidine Metabolism, Inborn Errors/diagnosis , Purine-Pyrimidine Metabolism, Inborn Errors/genetics , Uric Acid/bloodABSTRACT
OBJECTIVE: Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is characterized by an increase in renal uric acid excretion, usually with hyperuricemia and may be associated with more or less important neurological symptoms. Based on a series of 20 patients from 16 Spanish families we propose that HPRT deficiency could be clinically classified in four different groups. In the more severe form (classic Lesch-Nyhan syndrome) HPRT deficiency is characterized by choreoathetosis, spasticity, mental retardation and compulsive self-mutilation behavior. The pathophysiology of the neurological symptoms remains unclear and there is no effective therapy. This review is intended to provide a research strategy for a better knowledge of the neurological pathophysiology of HPRT deficiency. DEVELOPMENT: We have analyzed the knowledge on the neurological symptoms of HPRT deficiency. This knowledge comes from histopathological studies of the brains from Lesch-Nyhan patients, chemical studies of the cerebrospinal fluid, experimental animal models (pharmacologic and lesioning and genetic approaches), and human in vivo studies with positron-emission tomography. CONCLUSIONS: The observed findings suggest that the neurological symptoms of Lesch-Nyhan syndrome could be related with the neonatal neuronal and/or dopaminergic terminations damage. This damage could be due to lost or reorganization of dopaminergic system, and is associated with a reduced dopamine levels and with hypersensitivity of the D1 subclass dopamine receptors.
Subject(s)
Brain Diseases/physiopathology , Hypoxanthine Phosphoribosyltransferase/deficiency , Brain Diseases/diagnosis , Brain Diseases/enzymology , Dopamine/metabolism , Humans , Hypoxanthine Phosphoribosyltransferase/genetics , Lesch-Nyhan Syndrome/diagnosis , Lesch-Nyhan Syndrome/genetics , Point Mutation/geneticsABSTRACT
We describe a case of Menke's disease with severe neurological involvement, convulsive crises and characteristic hair anomalies (scanty, fragile, macroscopically hypopigmented and microscopically kinked) which led to rapid diagnosis. Vascular abnormalities with elongated, twisted arteries, skeletal abnormalities (more wormian cranial bones than usual, lateral spurs of metaphyses) and vesicle diverticuli. Electron microscopy of skeletal muscle showed concentrically laminated bodies, possibly of mitochondrial origin. Respiratory chain enzyme activity was normal. The patient died at the age of two and a half. On necropsy, histological abnormalities characteristics of the illness were seen (loss of neurones in the granular layer of the cerebellum, the neurones of Purkinje had thickening of the dendrites which spread out in the form of a weeping willow, reduplication and fragmentation of the internal elastic layer of muscle arteries). In the cortex of the cerebellum mega-mitochondria with electron-dense bodies, were seen on electron microscopy. This is the first case of Menke's disease described in the Spanish literature which includes pathology and electron microscope studies.
