ABSTRACT
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.
Subject(s)
Hair/abnormalities , Ataxia/pathology , Child , Consanguinity , Cystine/analysis , Dermatitis, Atopic/pathology , Dysarthria/pathology , Epilepsy/pathology , Female , Finger Joint/pathology , Genes, Recessive , Growth Disorders/pathology , Hair/chemistry , Hair/ultrastructure , Humans , Intellectual Disability/pathology , Joint Instability/pathology , Male , Microscopy, Electron, Scanning , Microscopy, Polarization , Muscle Spasticity/pathology , Strabismus/pathology , Sulfur/analysisSubject(s)
Acquired Immunodeficiency Syndrome/nursing , Confidentiality , Ethics, Nursing , HIV Infections/nursing , Jurisprudence , Prejudice , Acquired Immunodeficiency Syndrome/prevention & control , Acquired Immunodeficiency Syndrome/transmission , HIV Infections/prevention & control , HIV Infections/transmission , Humans , Risk Factors , Safety , United StatesSubject(s)
Acquired Immunodeficiency Syndrome , Confidentiality , Ethics, Professional , Humans , Medical Records , United StatesABSTRACT
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.
Subject(s)
Glycosphingolipids/blood , Rett Syndrome/blood , Adolescent , Adult , Child , Child, Preschool , Female , Humans , Male , Middle AgedSubject(s)
Economics, Nursing , Insurance, Liability , Nursing Care/standards , Humans , United StatesABSTRACT
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.
Subject(s)
Biogenic Amines/metabolism , Mental Disorders/metabolism , Nervous System Diseases/metabolism , Child , Child, Preschool , Female , Humans , Male , Osmolar Concentration , Postmortem Changes , Putamen/metabolism , Spiperone/metabolism , Syndrome , TritiumABSTRACT
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.
