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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical features of three children in whom a slow tremor involving the head, trunk, or limbs was associated with macrocephaly are presented. The findings were similar but not identical to those previously reported in four children with the bobble-head doll syndrome. These seven children have many of the signs and symptoms found in patients with surgically or spontaneously arrested hydrocephalus, including motor incoordination, behavior and psychologic deviations, and endocrine dysfunction. The tremor which can be voluntarily inhibited and which disappears following shunt surgery, is unique. The theoretical basis for the tremor is briefly discussed.
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PMID:Slow tremor and macrocephaly: expanded version of the bobble-head doll syndrome. 115 47

Two unrelated patients with macrocephaly, seizures, and mild cerebellar signs had a dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). Both also had autosomal dominant Cowden disease as evidenced by facial, oral, and acral papules. In the two families, 9 sibs demonstrated the mucocutaneous lesions, thyroid disease, breast tumors, and ovarian tumors compatible with the diagnosis of Cowden disease. Some of the sibs also showed various degrees of neurological signs such as macrocephaly, mental retardation, seizures, tremor, and dysdiadochokinesia. Magnetic resonance imaging scans of sibs of one family demonstrated megalencephaly and other mild abnormalities. The occurrence of these two rare disorders in single patients is more than a coincidence, and the clinical findings in the combined condition establishes it as a new phakomatosis.
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PMID:Lhermitte-Duclos disease and Cowden disease: a single phakomatosis. 164 66

We report six patients with glutaric aciduria type 1 in four families. The patients had marked clinical variability, even within families. Three of the patients studied were normal until the onset of neurologic abnormalities, that presented as an encephalitis-like illness in the first year of age. One patient had an early and important developmental delay, but never suffered an encephalopathic crisis. Two patients have intellectual preservation; one of them has a mild tremor and choreoathetosis since the first year of age, and the other had only two afebrile seizures in infancy and no other neurologic signs. Three patients are severely handicapped, with a severe dystonic-dyskinetic disorder and unable to even sit. All the six patients have macrocephaly and in all the computed tomography showed enlarged CSF spaces and sulcal separation over the frontal and temporal lobes. Urine organic acids study of all patients showed large quantities of glutaric acid.
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PMID:[Glutaric aciduria type 1: phenotypic variability. Report of 6 patients]. 985 Jul 48

We evaluated children in the first grade of a elementary school using neurological examination. With no previous knowledge of their educational performance, were invited all children attending five classes of the first grade of an elementary public school chosen randomly, in Itatiba / Sao Paulo / Brazil, whose parents assigned a Commitment Term for participation in this research. Children who missed three evaluations in different days or whose parents did not assigned the Commitment Term were excluded. The Traditional Neurological Examination (ENT) (Lefevre, 1972) was applied. It was considered for normal the measurement of the skull circumference, proposed by Diament & Rodrigues (1976), and the application of all ENT items. The data were stored in a database of the Epi6 Program (Epidemiologic Information), and analyzed by percentage calculation and by the chi2 test. The significance level was 0.05. Children evaluated were 124. The ENT results were normal in 87 (70.16%) and altered in 37 (29.83%). Among the alterations, there were observed: light tremor, light muscular hypotonia, speech acquisition delay, macrocephaly, microcephaly, hyperactivity, cranial nerve syndrome, central facial paralysis. One child presented corticospinal tract impairment syndrome of the distal lower extremities.
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PMID:[Neurologic semiology of a group of first grade students in an elementary school]. 1077 Aug 75

Glutaric aciduria type 1 (GA 1) is a preventable cause of acute brain damage in early childhood, leading to a severe dystonic-dyskinetic disorder. Typically between 6 and 18 months of age, a non-specific illness such as respiratory or gastrointestinal infection or immunization leads to encephalopathic crisis, usually resulting in degeneration of the putamen and caudate. GA 1 is an autosomal recessive disease of catabolism of amino acids lysine, hydroxylysine and tryptophane leading to accumulation of glutaric acid, 3-hydroxyglutaric acid and glutaconic acid. Recognition of this biochemical disorder before the brain has been injured is essential to the outcome. Diagnosis depends upon the recognition of relatively non-specific physical findings such as hypotonia, tremor, irritability and macrocephaly, and on urinary organic acids analysis. The diagnosis may also be suggested by characteristic findings of neuroimaging. Specific management includes pharmacological doses of 1-carnitine and dietary protein restriction. Metabolic decompensation must be treated vigorously to avoid permanent brain damage. With this case report the authors want to contribute to the early recognition of GA1, to the prevention of the related brain damage, and to increase awareness of the existence of so-called cerebral organic acidurias.
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PMID:[Glutaric aciduria type 1: an example of the importance of early detection of so-called cerebral organic aciduria]. 1520 27

L-2-hydroxyglutaric aciduria (L2HGA) is a chronic slowly progressive neurodegenerative disease characterized mainly by psychomotor developmental delay and cerebellar dysfunction. We report the clinical, biochemical, and neuroimaging features of 29 patients from 22 families. The mean age at the time of diagnosis was 13.4 years (2.5-32 years). The mean follow-up period of patients was four years (1.5-16 years). The main clinical findings were mental retardation and cerebellar involvement with ataxic gait and intentional tremor. Additional findings were mental retardation, macrocephaly and seizures. Diagnosis was confirmed by increased urinary excretion of L-2-hydroxyglutaric acid in all patients and highly specific magnetic resonance imaging (MRI) pattern showing subcortical leukoencephalopathy with bilateral high signal intensity in dentate nuclei and putamens. During the follow-up period, all patients had a static encephalopathy course. The underlying metabolic defect and the possible role of L-2-hydroxyglutaric acid are studied in a subgroup of these families and under evaluation for publication.
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PMID:L-2-hydroxyglutaric aciduria: a report of 29 patients. 1588 21

Heritable diseases associated with childhood tumors are sometimes defined as a probable etiologic factor or a coincidence. First of all, we must know the actual number of patients. Herein a case with medulloblastoma associated with glutaric aciduria type II [corrected] is reported for this purpose. A 5-year-old boy was admitted with nausea, vomiting, and lethargy. In medical history, consanguinity and siblings with mental-motor retardation and epilepsy are remarkable. Growth retardation, macrocephaly, lethargy, tremor, bilateral nistagmus, and papilledema were prominent features in physical examination. Noncontrast computed tomography of the brain showed a hyper dense mass in the cerebellar vermis. Gross total resection was made and the histopathology of the tumor was medulloblastoma. Besides medical history and physical findings, radiologic white matter changes in the subcortical, periventricular regions, bilateral basal ganglia, and caudate nuclei in magnetic resonance images other than tumor led us to investigate the child for glutaric aciduria type II [corrected]. The level of the 2-OH glutaric acid was determined as being 12-fold high in the urine. Chemo-radiotherapy was performed after surgery. Our case was the third patient with medulloblastoma in the literature and is still alive with no evidence of the disease 19 months after the initial diagnosis.
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PMID:Glutaric aciduria type II [corrected] and brain tumors: a case report and review of the literature. 2042 13

CUL4A and B encode subunits of E3-ubiquitin ligases implicated in diverse processes including nucleotide excision repair, regulating gene expression and controlling DNA replication fork licensing. But, the functional distinction between CUL4A and CUL4B, if any, is unclear. Recently, mutations in CUL4B were identified in humans associated with mental retardation, relative macrocephaly, tremor and a peripheral neuropathy. Cells from these patients offer a unique system to help define at the molecular level the consequences of defective CUL4B specifically. We show that these patient-derived cells exhibit sensitivity to camptothecin (CPT), impaired CPT-induced topoisomerase I (Topo I) degradation and ubiquitination, thereby suggesting Topo I to be a novel Cul4-dependent substrate. Consistent with this, we also find that these cells exhibit increased levels of CPT-induced DNA breaks. Furthermore, over-expression of known CUL4-dependent substrates including Cdt1 and p21 appear to be a feature of these patient-derived cells. Collectively, our findings highlight the interplay between CUL4A and CUL4B and provide insight into the pathogenesis of CUL4B-deficiency in humans.
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PMID:Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks. 2006 23

Shaken baby syndrome (SBS) has been thought to be caused by violent shaking of an infant and is characterized by the triad of findings: subdural hematoma (SDH), retinal hemorrhages, and neurologic abnormalities. The triad is not specific for SBS and can be seen in accidental trauma and in certain medical conditions. Recent observations, however, question whether SBS exists. Herein, we review the gender differences in 3 groups of infants with traumatic brain injury: (1) neonates with SDH from birth trauma, (2) infants with SDH from accidental trauma, and (3) infants with SDH from SBS. Gender differences are also presented in a fourth group of infants with macrocephaly related to increased extra-axial fluid spaces (IEAFS). Compared with the expected male frequency of 51.4% in newborns, there was a statistically significant overrepresentation of males in each of the 4 groups-65.3%, 62.2%, 62.6%, and 68.8%, respectively. We believe that the most likely explanation for these findings relates to the larger head size of the male compared with the female which has several relevant consequences. First, the larger head circumference of a male newborn compared with a female newborn may increase the likelihood that a male newborn will incur a small SDH from the minor trauma of the birthing process that can later rebleed and present with a symptomatic SDH that could be misdiagnosed as SBS and child abuse. Second, a short fall would have a greater likelihood of causing a SDH in a male infant than a female infant who could subsequently become symptomatic from hours to weeks later and could thus present as an unexplained SDH. Third, infants with macrocephaly related to IEAFS may be at increased risk for developing a SDH from the larger head size and greater tautness of the bridging vessels in the extra-axial fluid spaces. We believe that many infants who have been diagnosed with SBS have been given incorrect diagnoses of child abuse. Rather, their SDH may occur as a result of a small SDH from the birthing process that enlarges during early infancy, a short fall, or from macrocephaly with IEAFS.
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PMID:Overrepresentation of males in traumatic brain injury of infancy and in infants with macrocephaly: further evidence that questions the existence of shaken baby syndrome. 2199 27

Tectal plate tumors are intrinsic midbrain tumors that behave more like hamartomas than neoplasms. Postulating that the presentation depends on the age of the affected patients, the authors reassessed the presentation of 10 consecutive patients. All patients presented with headache and papilledema. Four children younger than 10 years presented with a short symptom interval, vomiting, and Parinaud's syndrome. The remaining 6 children presented with a long symptom interval, gait abnormalities, cognitive impairment, vision impairment, tremor, macrocephaly, impaired visual acuity, and ataxia and sometimes with pyramidal signs as well. The difference between groups was statistically significant. Tumor size was similar in the groups. It is therefore concluded that the presentation of tectal plate tumors varies with age.
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PMID:Age-dependent presentation of tectal plate tumors: preliminary observations. 2116 82


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