Gene/Protein Disease Symptom Drug Enzyme Compound
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 7,134 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have studied the clinical presentation and course of a chronic inflammatory disease occurring in childhood and observed in 30 patients. The first symptoms were generally present at birth, except in a few patients where they were first noticed in early infancy. All the patients had the association of three main symptoms: neurological, cutaneous and articular. The skin rash was the first symptom observed in all the patients and looked like a chronic non pruritic urticaria varying during the day. The articular manifestations involved knees, ankles and feet, elbows, wrists and hands unaffecting the other joints. They could be mild giving arthritis during flare-ups or severe with major radiological modifications affecting the epiphysis, metaphysis and growth cartilage. The neurological manifestations were characterized by a chronic meningitis and symptoms indicating meningeal irritation: headaches, seizures, spasticity of legs. Most patients had a cerebral atrophy and a low IQ. Sensory organ involvement occurred progressively during the follow-up: ocular inflammation with optic atrophy, deafness and hoarseness. Common morphological features characterized these patients with short stature, head enlargement, saddle back nose and short and thick extremities with clubbing of fingers. The course was that of a chronic inflammatory disease with numerous flare-ups associating fever, splenomegaly and adenomegaly. Except for a high level of eosinophils in blood, CSF and tissues, the biology was non specific and only exhibited features of inflammation. Except for two families, the disease was sporadic. A high frequency of prematurity with features resembling a foetal infection was observed but no proof of a possible causal virus has so far been found so that etiology remains unknown.
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PMID:A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. 348 35

Of 99 children in the Royal Blind School, Edinburgh (which serves Scotland and part of N E England), 15 had optic atrophy (hydrocephalus 4, intracranial haemorrhage 2, prematurity 2, fetal distress 2, birth asphyxia 2, cerebral atrophy 1, cardiac arrest during hernia operation 1, and leukaemia 1). Fourteen had congenital cataract, 12 congenital retinal aplasia (Leber's congenital amaurosis) and 11 retinopathy of prematurity. There were small numbers in many other diagnostic categories, including three with non-accidental head injury. Mental retardation, spasticity, and nystagmus were frequent other correlates in all diagnostic categories. 'Very probably hereditary' was a conservative attribution in 36, while 'probable' seemed appropriate for 12-that is, almost 48% were hereditary. Only about 11 cases might have been prevented through genetic counselling, which testifies to the frequency of autosomal recessive hereditary disease, although no parents were consanguineous.
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PMID:Blindness in schoolchildren: importance of heredity, congenital cataract, and prematurity. 365 73

The clinical, biochemical, and neuroradiologic findings and clinical follow-up of seven patients with glutaric aciduria type II are reported. Three phenotypes of the disease are encountered: neonatal-onset form with congenital anomalies (two patients) or without congenital anomalies (three patients) and late-onset form (two patients). The neonatal-onset form presents as an overwhelming illness, with severe hypoglycemia and metabolic acidosis leading to rapid death. Frequently it is associated with perinatal energy deprivation, a neonate with low birth weight and prematurity. The late-onset form presents with intermittent episodes of vomiting, hypoglycemia, and acidosis especially after meals rich in fat and/or proteins. All parents are consanguineous and have a first- or second-degree relationship. Initially, in the two phenotypes with neonatal onset and during crisis in the late-onset phenotype, routine laboratory evaluation showed severe metabolic acidosis, with an increased anion gap, hypoglycemia without ketonuria, and disturbed liver function tests. In the majority of patients with neonatal-onset forms, the kidneys, liver, and at times the spleen are enlarged with an increased echogenic pattern; however, no hepatic or renal cysts are detected. Cardiomegaly is observed in most patients. The diagnosis can be easily and rapidly reached through tandem mass spectrometry study of the blood and can further be confirmed by gas chromatography/mass spectrometry analysis of the urine organic acids. In this report, the magnetic resonance imaging/computed tomography brain studies showed brain atrophy, white matter disease, and in one patient, fluid-filled cavities in the periventricular area and putamina. Fluorine-18-labeled 2-fluoro-2-deoxyglucose positron emission tomographic (FDG PET) brain studies in two patients with late-onset disease showed slightly decreased activity in the cerebral cortex in one and in the caudate nuclei in the other. Brain FDG PET scan and magnetic resonance spectroscopy were normal in one patient with neonatal-onset disease. All patients were treated with a diet low in fat and protein, oral riboflavin, and carnitine. The results were promising for the late-onset disease. Intravenous carnitine gave rewarding results in one patient with neonatal-onset disease.
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PMID:Glutaric aciduria type II: observations in seven patients with neonatal- and late-onset disease. 1078 89

Infantile hemiparesis may be associated with significant morbidity and may have a profound impact on a child's physical and social development. There are little published data evaluating the clinicopathologic features of patients with infantile hemiparesis. The present study retrospectively examines these clinicopathologic features in a surgical series of 21 patients with infantile hemiparesis. The study group was comprised of 21 patients, 13 females and 8 males, ranging in age from 5 to 41 years (mean, 20 years) at the time of surgery. Hemiparesis involved the right side in 16 patients and the left side in 5 patients. Imaging studies identified porencephaly in 8 patients (38%), encephalomalacia in 5 patients (24%), focal cerebral atrophy in 9 patients (43%), ventricular dilatation in 6 patients (29%), and white matter hyperintensities in 4 patients (19%). Concomitant neurologic diseases included medically intractable epilepsy in all 21 patients and visual field defects in 11 patients (52%). Significant perinatal history included prematurity in 7 patients (33%) and cesarean section, forceps delivery, placental abruption, fetal distress, and prolonged rupture of membranes each in 1 patient (5%). The remainder of the patients had an uncomplicated perinatal course (43%). Twelve patients underwent functional hemispherectomy (57%), 8 patients underwent lobectomy (38%) and 1 patient underwent "cyst" resection (5%). Histological evaluation demonstrated lesional (corresponding to radiographic findings) tissue in 15 of the 21 cases (71%). Infarction, malformations due to abnormalities of cortical development (cortical dysplasia) and gliosis with microcalcifications were each found in 6 patients (29%). Infarction and a geographically distinct area of cortical dysplasia were found to coexist in 1 case. Histopathologic findings in the 6 cases in which excised tissue was considered nonlesional included gliosis in all 6 of the cases, hippocampal sclerosis in 2 cases (10%), and neuronal heterotopia in 2 cases (10%). An osteoma was identified in 1 patient. The most common pathological findings observed in our series were infarction and cortical dysplasia, although radiographically, infarct-related changes were the most evident. Hippocampal sclerosis was encountered in 2 patients, suggesting that a subset of cortical dysplasias and hippocampal sclerosis may be caused by an in utero ischemic event.
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PMID:Clinicopathologic findings in patients with infantile hemiparesis and epilepsy. 1518 40

A prospective study was undertaken of 129 children with spastic cerebral palsy to clarify the relationship between magnetic resonance imaging (MRI) findings and clinical features of cerebral palsy. Low birth weight, asphyxia, prematurity, seizures, mental development, Gross Motor Function Classification System, and MRI findings were analyzed. Significant abnormalities relevant to the cerebral palsy were evident on imaging in 123 (95.3%). A similar percentage of MRI abnormalities were detected in the groups, 45 (100%) in patients with tetraplegic cerebral palsy, 37 (92.5%) in children with diplegic cerebral palsy, and 42 (95.4%) with hemiplegic cerebral palsy. Periventricular leukomalacia was detected more frequently in the children with spastic diplegia than in the patients with tetraplegia or hemiplegia. Cerebral atrophy was found more often in the tetraplegic group compared to the diplegic patients. Porencephalic cysts were detected more frequently in children with spastic hemiplegia. Congenital brain anomalies were found in a higher proportion in tetraplegic children. Significant correlations between the MRI findings and Gross Motor Function Classification System in the diplegic and tetraplegic patients were found. No correlations between the MRI results and risk factors for cerebral palsy in the tetraplegic patients were noted. Early detection of brain abnormalities in children with cerebral palsy may help in the prognosis and in the initiation of appropriate therapy
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PMID:Spastic cerebral palsy: clinical magnetic resonance imaging correlation of 129 children. 1760 98

The purpose of the study was to identify predictive risk factors for epilepsy among children with cerebral palsy. We conducted a retrospective study of the clinical characteristics of children with cerebral palsy and epilepsy in comparison to those of children with cerebral palsy without epilepsy. The examined parameters included: the prevalence and the age of onset of the seizures, the clinical subgroup of cerebral palsy and subtype of epileptic seizures. We looked for possible risk factors including the presence of neonatal seizures, the imaging findings, the gestational age at delivery, the adjusted birth weight, the mode of delivery, the Apgar scores, and the head size as well as the presence of consanguinity. Epilepsy occurred in 33% of the studied children. Almost 50% of the epileptic children had their first seizure within the first 12 months of life. Neonatal seizures were strong predictors for epilepsy (p<0.001). Presence of at least one abnormal structural finding (particularly brain atrophy) was also a significant predictor of epilepsy (p<0.003). Low Apgar score at 5 min after birth and birth at term were also found more frequently among patients with epilepsy, although when adjusted with other risk factors, Apgar score did not reach statistical significance. The mode of delivery, head circumference, adjusted birth weight, gender and ethnic group, consanguineous marriage and prematurity were not found to be risk factors for the occurrence of epilepsy in these children.
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PMID:Risk factors for epilepsy in children with cerebral palsy. 1957 27

The germinal matrix-intraventricular hemorrhage (GM-IVH) is one of the most devastating complications of prematurity. The short- and long-term neurodevelopmental consequences after severe GM-IVH are a major concern for neonatologists. These kids are at high risk of psychomotor alterations and cerebral palsy; however, therapeutic approaches are limited. Erythropoietin (EPO) has been previously used to treat several central nervous system complications due to its role in angiogenesis, neurogenesis and as growth factor. In addition, EPO is regularly used to reduce the number of transfusions in the preterm infant. Moreover, EPO crosses the blood-brain barrier and EPO receptors are expressed in the human brain throughout development. To analyze the role of EPO in the GM-IVH, we have administered intraventricular collagenase (Col) to P7 mice, as a model of GM-IVH of the preterm infant. After EPO treatment, we have characterized our animals in the short (14 days) and the long (70 days) term. In our hands, EPO treatment significantly limited brain atrophy and ventricle enlargement. EPO also restored neuronal density and ameliorated dendritic spine loss. Likewise, inflammation and small vessel bleeding were also reduced, resulting in the preservation of learning and memory abilities. Moreover, plasma gelsolin levels, as a feasible peripheral marker of GM-IVH-induced damage, recovered after EPO treatment. Altogether, our data support the positive effect of EPO treatment in our preclinical model of GM-IVH, both in the short and the long term.
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PMID:Erythropoietin Improves Atrophy, Bleeding and Cognition in the Newborn Intraventricular Hemorrhage. 3304 2