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Biomedical subjects

W Killian

Publications and source records attributed to W Killian.

16 recordsLinked to original sources
PubMed1997

Diagnosis of trichothiodystrophy in 2 siblings.

Trichothiodystrophy (TTD) is a rare autosomal recessively inherited disorder which is characterized by sparse and brittle hair with low cystine content. It is often associated with physical and mental retardation. We report 2 cases of TTD in 2 sibs who were born to related parents. The children showed clinical features typical of TTD and in addition other symptoms such as epilepsy, ataxia, spasticity, strabismus, atopic dermatitis, dysarthria and hyperextensible fingerjoints. The sulfur content of hair was reduced to about 50% of normal values and scanning electron microscopy of hair showed trichorrhexis nodosa, trichoschisis, missing cuticle scales with weathering of hair shafts. Under polarizing microscopy an alternating dark and bright banding was found. The present cases show that the correct diagnosis of TTD in practice can be impeded for many years because of the heterogeneous clinical appearance and that the determination of the sulfur content in hair is a simple but indispensable method.

Ataxia↗
PubMed1990

Glycosphingolipids in patients with the Rett syndrome.

We have pursued two blind studies on the plasma glycosphingolipids in patients with the Rett syndrome (RS), other disorders and normal individuals from Baltimore, USA, Vienna, Austria, and Rostock, East Germany. We found the presence of an unusual glycosphingolipid in 70% of patients with RS. Approximately 10% of the plasma from patients with other developmental disorders also contained this glycosphingolipid. However, this glycosphingolipid was absent from the plasma of normal individuals and lipid storage disorders. Further work in this area will be necessary to associate the relevance of this finding to RS.

Adolescent↗
PubMed1987

Reduced concentrations and increased metabolism of biogenic amines in a single case of Rett-syndrome: a postmortem brain study.

Preliminary data of a postmortem brain study in a single case with Rett-syndrome compared to a single control case show a severe reduction of dopamine (DA), noradrenaline (NA), and serotonin (5-HT) in most regions studied and in two regions of adrenaline (A). A marked increase in the 3,4-dihydroxyphenyl acetic acid (DOPAC)/DA, homovanillic acid (HVA)/DA, and the 5-hydroxyindole acetic acid (5-HIAA)/5-HT ratios indicates increased metabolism of DA and 5-HT. Also a marked reduction of 3H-spiroperidol-binding in putamen was found. This agrees with the assumption that a defect in maturation processes of central monoaminergic systems could be an underlying cause of Rett-syndrome.

Biogenic Amines↗
PubMed1987

Serum iron status in Rett syndrome.

Low ferritin content in putamen and frontal cortex found in a postmortem study in a single case of Rett syndrome prompted measurement of iron-related parameters in blood. Serum ferritin, serum iron and transferrin were evaluated in 27 patients with classical Rett syndrome. Signs of iron deficiency and depletion of body iron stores were found in 20% of probands aged up to 6 years and in 37% older than 14 years. This result is in accordance with figures from the normal female population and therefore a linkage between iron depletion in brain and depleted iron stores could not be proven.

Adolescent↗
PubMed1986

Preliminary brain autopsy findings in progredient Rett syndrome.

Postmortem human brain analyses have been performed to further evaluate pathogenetic aspects of the Rett syndrome. While there are no significant abnormalities with respect to amino acid concentrations in putamen, caudate nucleus, red nucleus and thalamus, the concentration of kynurenine is increased in putamen, caudate nucleus, gl. pallidus, raphe and amygdaloid n. In contrast, serotonin and its metabolite 5-hydroxyindole acetic acid are below normal levels. D2-receptor number is decreased and there is a significant drop in the concentration of the iron-binding protein ferritin. It can be concluded, that reduction of D2-receptors is due to loss of cholinergic and GABA-ergic cell bodies in the striatum or may be a response to iron deficiency. Low serotonergic and high kynurenergic activity may be of pathogenetic importance in the frequently observed cerebral seizures in Rett syndrome.

Amino Acids↗
PubMed1986

On the genetics of Rett syndrome: analysis of family and pedigree data.

Pedigree studies of 220 Rett syndrome cases (218 isolated cases, one family with affected half sisters and one family with affected sisters) tested 5 monogenic hypotheses, taking account of apparently absolute gynecotropy and healthy parents. Without increased consanguinity we found a normal sex ratio among sibs; the rate of spontaneous abortions was not increased. There is also no increase in parental conceptional age. As the patients do not propagate, transmission of a supposed gene could not be observed. The results are compatible with either an autosomal dominant mutation with complete sex limitation or (more likely) an X-chromosomal dominant mutation with lethality to the males. As the probability for 2 affected sisters in one sibship differs considerably from the real incidence, alternative models should be taken into consideration and may be tested by linkage analysis.

Abortion, Spontaneous↗
PubMed1985

Neurochemical aspects of the Rett syndrome.

Preliminary biochemical analyses on plasma, urine, cerebrospinal fluid (CSF) and post mortem brain areas in the rare Rett syndrome indicate no gross disturbance of neurotransmitter function in the periphery. The amino acid pattern, the plasma catecholamines, dopamine, noradrenaline and adrenaline, serotonin in plasma and platelets, and monoamine oxidase (MAO) B-activity in platelets were not different from controls. Urinary metabolites of biogenic amines tended to be increased in the Rett syndrome. Amino acid and noradrenaline concentrations were not changed in lumbar CSF. In a single case of the Rett syndrome, lower values for most amino acids were notable in post-mortem human brain areas and this finding was accompanied by a severe reduction of dopamine, noradrenaline and serotonin, while the metabolite, DOPAC, most times is increased, and HVA and 5-HIAA are decreased. MAO activities, determined in four brain areas, showed no major abnormalities. 3H-spiroperidol binding was significantly below normal in the putamen and 3H tryptamine binding sites in the occipital cortex showed increased binding numbers with no changes in Hill-coefficients. In conclusion, our preliminary data indicate no severe changes in the peripheral neurotransmitter synthesis and turnover, while first post-mortem data indicate severe reduction of biogenic amine synthesis with enhanced turnover and reduced dopaminergic D-2 receptor activity in the advanced stage of a single case of the Rett syndrome.

Adolescent↗
PubMed1982

Observations on hair shaft morphology in mucopolysaccharidoses.

Scalp hair samples were obtained from 11 children with mucopolysaccharidosis (MPS, types I, II and III) in order to study the micromorphological structure of the hair shafts. To evaluate the morphological variation longitudinal hair preparations and cross-sections were investigated by light microscopy and additionally scanning electron microscopy was employed to demonstrate the surface structure. It is shown that the mean hair shaft diameter in MPS-patients, separated into two age groups, is not significantly different from the mean value in normal children of the same age, whereas the wider range of diameters and, in connection with it, the increased medulla content seems to be a characteristic feature of MPS. The most striking deviations were observed in the cross-sections, particularly in MPS III/A patients: varying polygonal shapes and an abnormal pigment distribution. According to these cross-sections the hair surface exhibited severe deformities in the scanning electron microscope, i.e. distortions of hair, irregular nodes and longitudinal grooves. In MPS I and II similar abnormalities were found.

Adolescent↗
PubMed1980

[A rare hand malformation, the Freeman-Sheldon syndrome].

A rare syndrome, first described in 1938 by FREEMAN and SHELDON, two English doctors, is discussed. The condition affects the face and both hands to a degree that no useful function is possible. The characteristic malformations are described in detail. They are caused by a soft tissue disorder and no bony involvement has been found so far. Therefore, the term "Cranio-carpo-tarsal dystrophy" is misleading. Conservative treatment by dynamic splints has brought very little improvement.

Abnormalities, Multiple↗
PubMed1976

Origin of the extra chromosome no. 21 in Down's syndrome.

Eighteen of 38 examined families with children with Down's syndrome showed polymorphisms of chromosome 21 elucidating the origin of the extra chromosome 21. Maternal origin was found in 10 cases and paternal origin in 8 cases. In both sexes errors occurred both in the first and in the second meiotic division.

Adult↗