Sorghum-based oral rehydration solution in the treatment of acute diarrhoea.

Sixty four children between 2.5 months and 5 years of age were randomly treated in a country hospital in Jos, Nigeria, with either the oral rehydration solution (ORS) as recommended by the World Health Organisation (WHO) or a cereal-based electrolyte solution, containing 60 g/l sorghum powder. Both groups were well comparable in many aspects, except for the nutritional status and the use of ORS before admission. In both aspects the sorghum-ORS group was at a disadvantage. During treatment there were no significant differences between the two groups in amount of fluid used, number of stools and duration of diarrhoea. Though weight gain in the two treatment groups was not significantly different, median weight gain in the sorghum-ORS group was 295 g, vs 155 in the WHO-ORS group. Seven children died, two (6%) in the sorghum-ORS group and five (17%) in the WHO-ORS group. Sorghum-ORS was well accepted and tolerated. This study suggests that sorghum-ORS can safely be used as an alternative in the treatment of diarrhoea.

Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV.

A 3 year old boy developed an unusually mild form of glycogen storage disease type IV. Metabolic investigations showed severe abnormalities of fatty acid and carnitine metabolism. A muscle carnitine deficiency was found. Treatment with L-carnitine orally led to a notable improvement in muscle strength.

Subacute zinc deficiency in children with recurrent upper respiratory tract infection.

Serum, urine and hair zinc levels in 20 patients with recurrent upper respiratory tract infection are compared with those of age- and sex-matched controls. Lower hair zinc (1.44 vs 2.00 mmol/g hair, P = 0.004) and higher urinary zinc levels (2.2 vs 1.6 mmol/mol creatinine, P = 0.05) were found, but no difference in serum zinc. The patients had lower-normal height for age (SD-score 0.2 vs 0.7, P = 0.031), there was no difference in weight for height. No correlation was found between the zinc values and the duration of the complaints.

The effect of large doses of ethinylestradiol on apolipoprotein levels in excessively tall prepubertal girls.

Seventeen constitutionally tall prepubertal girls, aged 10 to 14 years, were treated with large doses of ethinyl estradiol (EE) to reduce their final height. The serum concentration of cholesterol, triglyceride, and apolipoproteins before and after four to 17 months of treatment were compared with the same variables in a reference group, initially matched for bone age and height. In the patients, cholesterol rose by 24% (1.1 +/- 0.8 mmol/L), triglyceride by 105% (0.97 +/- 0.70 mmol/L), LDL apo B by 48% (27 +/- 19 mg/dL), apo A-I by 45% (62 +/- 17 mg/dL), and apo A-II by 21% (12 +/- 11 mg/dL). In the reference group, none of these variables changed significantly. The ratio of LDL apo B/apo A-I remained constant in both groups.

Skeletal maturation in the XY female syndrome.

The assessment of bone age in eleven prepuberal patients with XY-female syndrome shows that skeletal maturation in these patients follow a male pattern. This supports the concept of a factor on the Y chromosome regulating skeletal maturation in the first ten years of life. Tall stature does not seem to be a feature of this syndrome in childhood.

[Hyperthyroxinemia without hyperthyroidism]. / Hyperthyroxinemie zonder hyperthyreoïdie.

The various causes of persisting hyperthyroxinemia without hyperthyroidism are discussed after short case histories of an infant with hyperthyroxinemia due to TBG excess, discovered by newborn screening for congenital hypothyroidism and a girl with peripheral resistance to thyroid hormones disclosed by investigation of a small goiter. The differentiation of these various causes by thyroid function-tests is indicated. Though the anomalies leading to euthyroid hyperthyroxinemia are usually harmless their timely recognition, also in other members of the family, will prevent erroneous diagnosis and treatment of hyperthyroidism.

Zinc in hair and urine of paediatric patients.

Zinc concentrations in hair and urine were measured in groups of children varying in one condition - short stature, or after prolonged upper respiratory infection, or during non-infectious diarrhea, or while on chemotherapy for acute lymphatic leukaemia and in healthy controls. As compared with controls, hair zinc was significantly low after respiratory infection (p less than 0.0001) and high in short stature (p less than 0.01). Urinary zinc was increased during initial chemotherapy (p less than 0.001) and diarrhea (p less than 0.02). It is shown that zinc deficiency occurs in one of the common symptoms in paediatric medicine, namely upper respiratory tract infection. The high overlap (34-88%) proves hair and urine zinc to be of no use for reliable individual diagnostic statements.

[Diagnosis of hereditary metabolic disorders in newborn and young infants]. / Herkenning van erfelijke stofwisselingsstoornissen bij de pasgeborene en de jonge zuigeling.

This report describes anamnestic, physical and biochemical data in the neonatal period which have led to the diagnosis of an inborn error of metabolism in 12 children. Even in hospital laboratories without facilities for elaborate biochemical assays, adequate investigations permitting timely referral of the patient to a more specialised hospital can often be carried out. Most important is the constant awareness of the pediatrician in case of serious illness which cannot be easily explained by more common causes. The similarity of the clinical presentation and often the coexistence of neonatal sepsis and inborn error of metabolism are stressed. Even when treatment is not possible or has not been successful, a correct diagnosis is important for genetic counseling and antenatal diagnostic procedures.

HLA-DR antigens and phenotypes in Dutch coeliac children and their families.

In a study on the HLA-DR antigens and phenotypes in a series of Dutch coeliac children and their first-degree relatives, the B-cell antigens of 36 unrelated coeliac children, 110 first-degree relatives of 33 of them, and 201 controls were typed with the two-colour fluorescence test. The most frequent antigen was HLA-DR3 (69%), followed by DR7 (36%). The distribution of DR phenotypes showed that the most frequent was DR3/other DR (25%), followed by DR3/DR7 (17%), DR3/DR4 (14%), and DR3/DR3 (14%). However, due to the frequency of certain antigens in the controls, only phenotypes DR3/DR3 (relative risk = 6.2), DR3/DR7 (relative risk = 6.4), and DR3/DR4 (relative risk = 6.2) were significantly associated with CD. The family study confirmed the segregation of the disease with phenotypes DR3/DR3 and DR3/DR7. The present results show that the association between CD and phenotypes DR3/DR3 and DR3/DR7 is not an exclusive characteristic of Southern coeliac children.

Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin.

A boy, now 22 months old, is described who presented at the age of 6 weeks with hypoglycaemic coma. The excretion pattern of organic acids in the urine was consistent with glutaric aciduria type II (GA II). A high energy diet low in fat and protein was given. Treatment with riboflavine resulted in an improvement of the metabolite profile, and the patient gained weight. However, a tendency to hypoglycaemia and severe hypotonia persisted. Due to muscle weakness, aggravated by infections, artificial ventilation was necessary during three periods. Serum carnitine level was low. Treatment with carnitine, started during the third period of artificial ventilation, led to some improvement of muscle strength, but he still could not breathe without support. Treatment with insulin, combined with further enrichment of the diet with glucose, resulted in an increase in muscular strength and in weight gain. Thirteen families with GA II have been described upto now. This is the first patient with a severe form of the disorder wo has survived the 1st year of life. Treatment and metabolic studies are presented.

Successful treatment of severe carbamyl phosphate synthetase I deficiency.

We describe a girl with neonatal hyperammonaemia due to carbamyl phosphate synthetase I deficiency. Treatment consisted of protein restriction from the second day of life. Sodium benzoate was given for three weeks after birth and again from 7 months of age together with sodium phenylacetate to improve protein tolerance. Growth and development are normal at 15 months of age.

Female pseudo-hermaphroditism due to an adrenal tumour in the mother.

This is a report of a case of almost complete external virilisation of a girl due to an adrenocortical adenoma of the mother. The tumour, though present for many years, caused only mild symptoms in the mother; therefore detection followed only after birth of the virilised girl.

Fukuyama type congenital muscular dystrophy--two Dutch siblings.

Two Dutch siblings, diagnosed as suffering from Fukuyama type congenital muscular dystrophy (FCMD) on the basis of clinical, computerized tomography (CT), and muscle and brain biopsy findings, are reported. Hypoplasia of the chorioidea was observed for the first time in FCMD. Autopsy of the first case revealed the major pathological changes of FCMD, i.e. micropolygyria, loss of cytoarchitecture, hypoplasia of the pyramidal tract, leptomeningeal thickening. Heterotopias of nervous tissue in the spinal arachnoidal spaces were found. This is the first case in which brain tissue has been investigated on two separate occasions. In the biopsy specimen--at the age of 14 months--myelination was poor and astrogliosis marked. At autopsy--4 years later--myelination proved to be only slightly less than normal. However, white matter hypodensities on the successive CT's did not change. There is no ready explanation for this discrepancy. Typical FCMD is compared to FCMD-like cases from outside Japan. There are arguments in favor of the concept of a continuum of diseases--with the same (unknown) etiology--representing both typical FCMD and other types of congenital muscular dystrophy with CNS lesions.

[The excretion of N-acetyl-beta-D-glucosaminidase in the urine of children with urinary tract diseases]. / De uitscheiding van N-acetyl-beta-N-glucosaminidase in de urine van kinderen met afwijkingen van de urinewegen.

In 81 children without any urinary or kidney disease and in children with various diseases of the urinary tract, the excretion of N-acetyl-beta-D-glucosaminidase (NAG) was measured in an urine sample and related to creatinine excretion. The values of the first group of children accorded well with normal values reported in the literature. The age dependency (1-12 years) of the ratio NAG/creatinine is not of great importance, a single normal value for mean and mean + 2SD can be used. The estimation of NAG proved to be a relatively simple and useful measure of the involvement of the upper urinary tract in urinary infections. This is important for decisions about choice of treatment and further urological investigations.

The prognosis of hyperlysinemia: an interim report.

Ten patients with familial hyperlysinemia with lysine-ketoglutarate reductase deficiency, identified through newborn screening programs or family surveys, were selected for review. Ages ranged from 2 to 24 years when last examined. A low-protein diet had been administered to two patients, which reduced the plasma lysine levels from 20 mg per dl or more to about 12 mg per dl. The rest were untreated. Mental development was judged normal or above average in nine. Mildly subnormal performance in three was considered appropriate to family and social background. No adverse mental or physical effects could be attributed to the hyperlysinemia. A normal child has been born to a mother with hyperlysinemia, indicating that the fetus may develop normally despite exposure to high lysine levels.