Defective monocyte oxidative metabolism in a child with Smith-Lemli-Opitz syndrome.

We present a patient with Smith-Lemli-Opitz syndrome with immunodeficiency. The patient suffered numerous infectious episodes, atopic dermatitis and wheezing. Immunological investigations demonstrated severely reduced oxidative burst-responsiveness of the blood monocytes, whereas chemotaxis, phagocytosis and interleukin-1 production were normal. Tests of neutrophils and lymphocytes were normal excluding previously described immune deficiency disorders. The father proved to have diminished monocyte oxidative metabolism as well, whereas the mother had normal monocyte function. The genetic and immunological aspects are discussed in relation to the syndrome.

[Neurocysticercosis. Severe neurocysticercosis in a child]. / Neurocysticerkose. Svoer neurocysticerkose hos et barn.

A case of neurocysticercosis with progressive severe neurological symptoms is described. The patient was a Turkish girl aged 4 1/2 years who had experienced intermittent neurological symptoms for two years. Rapid diagnosis and treatment with praziquantel and corticosteroid resulted in complete restitution.

[Toxic shock syndrome. A case of a child with burns]. / Toksisk shock syndrom. Et tilfoelde hos et barn med forbroending.

A case of the toxic shock syndrome (TSS) in a burnt (scalded) child is presented. TSS is a condition most frequently associated with menstruating women using tampons. In recent years, however, increased knowledge of the syndrome has led to an increase in the number of reported cases associated with other clinical situations. The non-menstrual cases are most frequently observed in young persons many of whom are children. TSS is due to infection with toxin-producing S. aureus. TSS-toxin-1 is apparently the most important among toxins. The fatality rate has been reported to be as high as 15%, so recognition of the syndrome and institution of the correct treatment are of utmost importance. By means of an easy and rapid test, it is possible to detect if the strain of S. aureus is TSST-1-producing. The test is now available and employs passive latex agglutination. The sensitivity and specificity are high and, if clinical signs of TSS are present, a positive test result will support the diagnosis in 94% of alle positive cases.

[CT in children with epilepsy. The value of cerebral CT in children with epilepsy]. / CT hos børn med epilepsi. Vaerdien af cerebral CT hos børn med epilepsi.

In a retrospective material of 66 children with epilepsy, computed tomographic scanning had been undertaken in 30 cases. Abnormal computed tomographic findings were observed in five children in the form of cerebral tumour or sequelae of head injuries or perinatal asphyxia. All five children had focal EEG changes but none of these as the only positive finding. The investigation had therapeutic consequences in one case only, viz the case where computed tomographic scanning confirmed the clinical suspicion of tumour. The value of computed tomographic scanning in children with epilepsy is discussed, particularly in children with focal EEG changes.

The 8p-syndrome.

A partial de novo deletion of 8p in a 10 1/2 month-old boy is described, the karyotype being 46,XY,del(8) (p21.3-qter:). Reduced birth weight, growth and psychomotor retardation, craniofacial dysmorphism with microcephaly and low set, deformed ears, stubby nose, wide set nipples, congenital heart defect and undescended testes were the main clinical findings. Death occurred at 2 1/2 years of age due to fulminant tracheo-bronchitis. Red cell glutathion reductase activity was normal. A review of previous cases with similar deletions outlines a definite clinical entity.

Atrophic, autoimmune thyroiditis in infancy. A case report.

Autoimmune thyroiditis in infancy is a very rare condition. Only 1 case has been reported previously. In the present patient an acquired primary hypothyroidism with high titers of thyroid microsomal antibodies was diagnosed at the age of 7 months. The patient died at 9 months of age in a sepsis-like condition. Autopsy revealed an atrophic thyroiditis. The more severe and complex clinical picture of autoimmune thyroiditis in infancy compared to that later in childhood is discussed.

A case of the ring 20 syndrome.

A 4-year-old child with a ring 20 chromosome mosaicism, low grade developmental delay, and seizures is described.

Glycosylated hemoglobin in relation to rapid fluctuations in blood glucose in children with insulin-dependent diabetes: a comparison of methods with and without prior dialysis.

To evaluate the importance of dialysis in the determination of glycosylated hemoglobin (HbA1), we studied blood glucose and HbA1 in 38 insulin-dependent diabetic children during a morning fast and again 6 h postprandially. We used two methods to determine glycosylated hemoglobin: (1) the conventional macrocolumn method of Trivelli, which uses dialyzed hemolysate and (2) a commercially available microcolumn procedure, Isolab's Fast Hemoglobin Test System, which uses undialyzed blood samples. When the 6-h changes were assessed, the mean blood glucose had increased from 11.6 to 16.3 mmol/L (P less than 0.001). HbA1, determined by the microcolumn procedure simultaneously increased from 12.6% to 13.4% (P less than 0.001), and the increment in HbA1 correlated significantly with the increment in blood glucose (r = 0.62, P less than 0.001). HbA1 determined by the macrocolumn method increased slightly from 13.1% to 13.4% (P less than 0.01), and no correlation was present between the increment in blood glucose and HbA1 (r = -0.02, NS). When the microcolumn procedure was modified by employing dialyzed hemolysate, this method became unaffected by acute blood glucose variations. Therefore, dialysis in sample preparation appears to be important in minimizing the effect of acute changes in blood glucose on the level of glycohemoglobin. Methods in which dialyzed hemolysates are used may be more useful as an index of long-term glucose control.