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Biomedical subjects

A Ieshima

Publications and source records attributed to A Ieshima.

43 records · Page 3Linked to original sources
PubMed1983

Computed tomography in Krabbe's disease: comparison with neuropathology.

We report computed tomography (CT) appearance of two patients with Krabbe's disease. The most common findings included severe brain atrophy: an enlarged frontal extracerebral space, dilatation of ventricles, enlarged cisterns and enlarged cortical sulci. There was low attenuation in the corpus medullaris of the cerebellum, and symmetrical focal hypodensity in the central periventricular white matter. CT at the terminal stage (16 months) showed marked cerebral atrophy including flattening of the heads of caudate nuclei and widening of the third ventricles confirmed by a neuropathological study. There was relatively less low density on the white matter of Krabbe's disease compared with that of other leukodystrophies. These CT findings may be useful in the diagnosis. The relative lack of low density in the white matter of Krabbe's disease might be related to severe gliosis and reduced total lipid contents.

Atrophy↗
PubMed1980

The "happy puppet" syndrome in two siblings.

Two siblings with the "happy puppet" syndrome are presented. Their clinical features are quite similar and closely resemble those of previously reported cases. These features include severe mental retardation, epileptic seizures, easily provoked and prolonged paroxysms of laughter, atactic jerky movements, hypotonia, large mandible with prognathia, and 2-3 cps spike and wave activity in the EEG. The occurrence of this syndrome in the two siblings suggests a genetic etiology possible as an autosomal recessive trait.

Child↗
PubMed1980

A case of r(21) with stigmata of atypical Down syndrome.

A case of r(21) with stigmata of atypical Down syndrome is presented. Karyotype of the proposita was determined as 45,XX,-21/46,XX,-21,+r(21)/47,XX,-21,+r(21),+(21). Most ring chromosomes showed double-sized ring chromosomes, which were trisomic for 21p11-21q22.3 and monosomic for 21q22.3-qter. SOD-1 activity revealed only slight elevation. The mechanism of ring formation is discussed.

Chromosome Aberrations↗
PubMedDate not supplied

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.

UNLABELLED: Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive spondylo-epiphyseal dysplasia. The characteristic features of SIOD include 1) short stature with hyperpigmented macules and an unusual facies, 2) proteinuria with progressive renal failure, 3) lymphopenia with recurrent infections, and 4) cerebral ischaemia. Although 25 patients have been reported with this disorder, the clinical course and phenotype of SIOD are not well characterized. This report summarizes the clinical findings, course and treatment of reported patients and includes 14 additional patients with SIOD. We emphasize the high incidence of cerebral ischaemia and ocular abnormalities, define the high incidence of thyroid dysfunction and blood cytopenia, and confirm the absence of effective and durable medical therapies. CONCLUSION: Schimke immuno-osseous dysplasia is a multi-system autosomal recessive disorder with variable expression that affects the skeletal, renal, immune, vascular, and haematopoietic systems. Medical therapy is limited especially for more severely affected individuals.

Adolescent↗