Rotavirus gastroenteritis and central nervous system (CNS) infection: characterization of the VP7 and VP4 genes of rotavirus strains isolated from paired fecal and cerebrospinal fluid samples from a child with CNS disease.

Rotavirus RNA was detected in the cerebrospinal fluid (CSF) of a child with central nervous system disease symptoms associated with rotavirus gastroenteritis. The rotavirus isolates from the fecal and CSF samples were genotyped as G1P[8]. Sequence analysis of the VP7 and VP4 proteins derived from the fecal and CSF samples were remarkably similar to each other and to G1P[8] rotavirus strains commonly circulating in the community and associated with gastroenteritis.

Partial lipodystrophy presenting with myopathy.

A girl with partial lipodystrophy is described presenting with muscle weakness and developmental delay several years before lipoatrophy became apparent. The patient subsequently developed epilepsy, fatty liver, secondary amenorrhoea, hirsutism, insulin-resistant diabetes mellitus, hyperlipidaemia, and hypothyroidism. She remains weak with poor exercise tolerance. This case illustrates an atypical presentation of the Barraquer-Simon syndrome.

Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity.

We describe three unrelated, Scottish infants with the velocardiofacial/DiGeorge syndrome, all of whom have deletions of chromosome 22q11. Two of the infants had inherited the deletion from their mothers; the third infant's mother had clinical features although a deletion was not demonstrable in her. One infant had craniosynostosis associated with broad thumbs which may be a separate familial trait; however, at least one other 22q11 deleted individual with craniosynostosis is known and it is possible that craniosynostosis is a rare feature of this deletion syndrome. The second infant is the third reported case with isolated hypoparathyroidism and dysmorphic features associated with the 22q11 deletion. The variable clinical phenotype of these families with 22q11 deletion is discussed and compared with other reported families.

Myocarditis and haemolytic uraemic syndrome.

A 13 year old girl is reported who presented with haemolytic uraemic syndrome (HUS) due to Escherichia coli O157:H7 infection. She died during the acute phase of the illness after an episode of unexplained sudden circulatory collapse. Postmortem examination confirmed the diagnosis of HUS and showed histological evidence of myocarditis manifested by the presence of inflammatory cell infiltration in the myocardium and around the conducting system.

Cardiofaciocutaneous syndrome with new ectodermal manifestations.

We describe a 7 year old girl whose features satisfy the diagnosis of cardiofaciocutaneous syndrome. Her ectodermal features consist of fine, sparse hair, thin, opalescent nails, finger tip pads, generalised pigmentation of the skin, but no hyperkeratosis. Skin pigmentation and finger tip pads have not been previously reported in this syndrome. Twenty-two cases of CFC have been described but there is debate as to whether it is distinct from Noonan syndrome.

Rheumatological manifestations of the leukaemias and graft versus host disease.

Bone and joint involvement in the leukaemias is discussed. Particular emphasis is placed upon osteoarticular presentations which may predate the haematological changes or divert attention from the primary pathology. A description of acute and chronic graft versus host disease is presented with particular emphasis on the rheumatological manifestations.

Haemolytic uraemic syndrome in the defined population of northeast of Scotland.

Twenty seven cases of haemolytic-uraemic syndrome (HUS) were admitted to the Royal Aberdeen Children's Hospital between 1978 and 1989. All cases were from the defined childhood population of the Grampian region of Northeast of Scotland. Thirteen cases were admitted during the 2-year period 1987-1988 (Group 1). Of the 13 cases, 9 (Group 1 a) were admitted within the 11-month period between August 1987 and June 1988, and were from a small area (7 miles radius) within and around the City of Aberdeen. Their mean age was 7.1 years. Twelve cases of HUS were admitted between 1978 and 1986 and 2 cases were admitted in 1989 (total 14 cases; Group 2). Mean age was 3.0 years with no geographical clustering. The average annual incidence for group 2 was 1.25 per 100,000 children 0-16 years old.

Alcohol intoxication, an underdiagnosed problem?

To show that alcohol intoxication may be underdiagnosed in childhood, we describe four patients in whom it was not suspected until blood alcohol concentrations were measured as part of a toxicology screen.

Selective vitamin B12 malabsorption without anaemia but with profound failure to thrive.

A 7-month-old boy presented with vomiting and failure to thrive associated with proteinuria, methylmalonic aciduria and macrocytosis, but without anaemia. Plasma vitamin B12 levels were normal by a radio-dilution method. He was treated as an inborn error of metabolism with intramuscular cyanocobalamin and a low protein diet. However when treatment was withdrawn he remained well for 11 months before relapsing with vomiting and weight loss. Re-investigation again showed methylmalonic aciduria, but the haemoglobin was low and plasma vitamin B12 levels by a specific method showed them to be reduced. Studies of vitamin B12 absorption showed the picture of selective malabsorption. He was started on regular cyanocobalamin injections.

Pre-pubertal gynaecomastia as the presenting feature of late-onset 21-hydroxylase deficiency.

We describe an 8-year-old boy with pre-pubertal gynaecomastia as the presenting feature of late-onset 21-hydroxylase deficiency, an association not previously reported. Although absolute oestrogen levels were not higher than previously described in 21-hydroxylase deficiency, the gynaecomastia may have arisen through a relative disproportion of the C18 to C19 steroids.

A complex double translocation involving four chromosomes and five breakpoints in a child with mild mental retardation.

A 6-year-old boy with speech delay and mild mental retardation (IQ 82) was found to have a complex double translocation involving four chromosomes and a total of five breakpoints, two being on the same arm. This resulted in the karyotype 46,XY,t(2;4;7)(7;8)(q14;q31;q11q22;q13). As far as the authors are aware this is the first time that such a complex double translocation has been reported. Both parents had normal karyotypes.