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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A pediatric neurologist analyzed the case histories of 30 4-16 year old children diagnosed with cerebellar ataxia in the pediatric neurology unit at the Royal Hospital for Sick Children in Edinburgh, Scotland to examine its clinical features, investigative findings, and etiology. Previous unfavorable events happened to 14 children (46.6%). Yet only 6 (42.8%) of these 14 children had unfavorable events of etiological significance. These previous unfavorable events occurred during the perinatal period (48%). These events in order of significance were asphyxia, prematurity, neonatal jaundice, and trauma. 66.6% of all children had an unsteady gait. The 2nd and 3rd most common signs of cerebellar ataxia were truncal ataxia (53.3%) and hypotonia (36.6%). The next most common symptom was considerable delay in reaching gross motor milestones (50%) such as not sitting until 2 years old. 23 (76.6%) of the children had dysfunctions in 1 of the cerebellar divisions. Clinical examination found dysfunctions most often in the paleocerebellum (86.6) followed by the neocerebellum (70%) and archicerebellum (56.6%). The paleocerebellum and the archicerebellum were the only divisions involved in 6 and 1 of the remaining children, respectively. The most common cause of ataxia was hydrocephalus (23.3%) followed by perinatal problems (20%). 70% of the patients also experienced other central nervous system conditions such as macrocephaly and mental retardation. 5 children had normal investigative findings, 3 of whom had cerebellar ataxia syndrome, 1 had congenital ataxic cerebral palsy, and 1 had familiar ataxia.
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PMID:Cerebellar ataxia in childhood: a review of clinical features, investigative findings and aetiology in 30 cases. 150 89

We have previously described a family with a neurological syndrome comprising neurogenic muscle weakness, ataxia, retinitis pigmentosa, and variable sensory neuropathy, seizures, and mental retardation or dementia. This is associated with a heteroplasmic point mutation of mtDNA at bp 8993. The mother of a severely affected child underwent prenatal diagnosis in two further pregnancies. Analysis of chorionic villus samples showed a higher proportion of mutant mtDNA on both occasions, and this was reflected in the majority of fetal tissues, including brain and muscle. Prenatal diagnosis is a rational approach to the prevention of severe diseases caused by point mutations of mtDNA but is currently hampered by incomplete knowledge concerning the proportion of mutant mtDNA: its relationship to disease severity, how it may change during fetal and postnatal development, and its tissue distribution.
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PMID:Prenatal diagnosis of mitochondrial DNA8993 T----G disease. 153 98

We describe 3 children (from two families) with a multisystemic disorder characterized by mental retardation, nonprogressive ataxia, polyneuropathy, hepatopathy during infancy and growth retardation. Due to the clinical similarities to a recently recognized disorder associated with carbohydrate-deficient transferrin, we examined serum transferrin by means of isoelectric focusing, and found increases in disialo transferrin and asialotransferrin. Removal of sialic acid with neuraminidase revealed the same transferrin phenotypes as in their parents. Similarly, carbohydrate-deficient fractions of serum alpha 1-antitrypsin were also detected. Therefore, the diagnosis was made of the recently identified carbohydrate-deficient glycoprotein syndrome. This is a genetic disorder with distinctive clinical features and multiple carbohydrate-deficient glycoproteins. These seem to be the first reported Japanese patients with this syndrome.
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PMID:The carbohydrate deficient glycoprotein syndrome in three Japanese children. 159 May 25

Wolfram syndrome is an autosomal recessive disorder beginning in childhood that consists of four cardinal features: optic atrophy, diabetes mellitus, diabetes insipidus, and neurosensory hearing loss. Aside from these features, the clinical picture is highly variable and may include other neurologic abnormalities such as ataxia, nystagmus, mental retardation, and seizures. We present two unrelated patients with Wolfram syndrome, both of whom had the four cardinal features and several other neurologic abnormalities. MRIs showed widespread atrophic changes throughout the brain, some of which correlated with the major neurologic features of the syndrome.
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PMID:Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging. 160 50

In 2 unrelated families 9 males presented with ataxia, apraxia, and neuropsychological abnormalities or mental deficiency, inherited as an X-linked recessive syndrome with partial clinical expression in obligate female carriers. The symptoms were present in early childhood and were non-progressive. Additional findings in 2 males were congenital "club-feet" and generalized seizures. The affected males were 13-62 years old at the time of our examination. Chromosome abnormalities including fragile X fra(X) could not be demonstrated in any case. Results of metabolic screenings were also normal. The clinical picture with X-linked recessive inheritance distinguishes this syndrome from previously described inherited hereditary ataxias.
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PMID:New X-linked syndrome with apraxia, ataxia, and mental deficiency: clinical, cytogenetic and neuropsychological studies in two Danish families. 160 32

A woman has appeared normal during her neonatal and childhood period except for a short stature. Her parents were healthy and non-consanguineous. At the age of 8, she noticed difficulty in climbing stairs and had tendency to fall. In her 13th year, she developed marked scoliosis and genu valgum. Physical examination at 14 years of age revealed a gentle and shy child of short stature with brown-black kinky hair. Neurological examinations revealed progressive mental retardation, optic nerve atrophy, moderate and coarse nystagmus on lateral and vertical gaze, atrophic tongue with fasciculations, slow and scanning speech, distal muscular weaknesses with diffuse atrophies in the four extremities and sensory deficiencies in all modalities with a glove-stocking type distribution. At the age of 15, she was unable to walk without a wheelchair. During the course she showed slowly progressive muscular weakness, ataxia and decreasing sensation especially in the lower extremities. She died of infection of the respiratory and urinary tracts at the age of 25. Pathologically the abnormalities in the biopsied and autopsied sural nerve were characterized by an advanced stage of nerve fiber degeneration without giant axons. The phrenic nerve obtained at autopsy at 1 to 10 cm from axon terminal revealed the presence of several large focal axonal swelling of 15-20 microns in diameter. On the other hand, sections of the phrenic nerve at 15 cm from axon terminal displayed a mild to moderate reduction in the number of myelinated fibers without giant axons. The difference of pathological findings among these specimens seems to depend on the time as well as the site of the examination.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Advanced stage of giant axonal neuropathy]. 165 77

Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differential diagnosis of this syndrome is discussed including the syndromes described by Berman et al and Koletzko et al.
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PMID:Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy. 166 80

The purpose of the study was differential diagnosis of lactic acidosis in 44 children aged from 2 weeks to 4 years. In all of them the lactate level in repeated determinations exceeded 27 mg/100 ml. From the point of view of clinical manifestations the children were divided into three groups: 26 with hepatomegaly and hypoglycaemia (I), 6 with ataxia and retardation of somatic development (II), 12 with mental retardation and muscular hypotonia (III). Together with basic biochemical studies other tests were done, if necessary, including glucose and alanine loading, lactate determination in cerebrospinal fluid, analysis of urinary organic acids by the GC-MS method, morphological examinations of muscle biopsy material, enzymatic determinations in liver biopsy material. In group I glycogenosis was suspected and its type was finally established after biochemical and enzymatic tests (types I, Ib, III, VI, VIa, XI). In one case fructose-1,6-diphosphatase deficiency was suspected. In group II the clinical manifestations resembled Leigh's syndrome. The tests demonstrated an inhibition of glucose formation from alanine, and lactate level in the cerebrospinal fluid was evidently raised above that in the serum. Gasometric index showed the presence of respiratory alkalosis with metabolic compensation rather than primary lactate acidosis. In group III, with considerable clinical variety of signs, in only nine out of 12 children the cause of lactate acidosis could have been established (pathological changes of mitochondria in 4 cases, secondary increase of lactate without pathogenetic importance in 4, and 3-hydroxy-3-methylglutaric acidosis in 1 case. In conclusion it is thought that this combination of diagnostic methods is useful in differential diagnosis of congenital lactate acidosis in children.
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PMID:Congenital lactic acidosis in children--differential diagnosis in 44 cases. 184 18

Two sibs with an encephalopathy, including intracerebral calcification and white matter lesions, dwarfism owing to growth hormone deficiency, and retinal degeneration are reported. The onset of the disease in both patients occurred with retardation of motor development during the first year of life. Later, dwarfism, mental retardation, spasticity, ataxia, and retinal degeneration became apparent. These cases probably represent some form of connatal leucodystrophy. The differential diagnosis is discussed.
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PMID:Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity. 194 68

A previously undescribed form of complicated hereditary spastic paraplegia with epileptic myoclonus in four affected offspring of consanguineous parents is reported. The disorder was inherited as an autosomal recessive trait. Age at onset varied from the prenatal period to 10 years. The main findings when examined between 26 and 42 years of age were spastic paraplegia, epileptic myoclonus, distal muscle atrophy, mental retardation or dullness, ataxia, hearing loss and a progressive course. The difference in phenotypic expression was striking. One woman had progressive epileptic myoclonus, ataxia and only slight distal wasting and could have been misdiagnosed as a case of Unverricht-Lundborg's disease. Thorough biochemical investigations revealed no cause of the disorder.
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PMID:Hereditary spastic paraplegia with epileptic myoclonus. 195 Apr 52


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