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A 3-year-old girl with status asthmaticus developed a grand mal seizure in association with hyponatraemia after 16 h of fluid therapy. Urinary arginine vasopressin (AVP) was elevated during the attack and rose strikingly before the onset of the convulsion. In 13 of 17 other patients with moderately severe asthmatic attacks, increases in urinary AVP levels occurred before the initiation of treatment. Dilutional hyponatraemia (water intoxication) must be prevented in patients with severe asthmatic attacks in whom diuretic capacity is impaired.

To clarify whether an abnormal bile acid pattern has a role in the pathogenesis of Alagille syndrome, we compared serum bile acid patterns in seven with Alagille syndrome with those of patients with congenital biliary atresia (CBA), neonatal hepatitis (NH) and normal infants. Of the seven patients with Alagille syndrome, four patients were younger and three were older than 1 year. The mean total serum bile acid level in the infants was higher than in older subjects. There was a dissociation between the levels of serum total bile acid and bilirubin in three of the seven cases. The mean total bile acid levels in serum were in the following decreasing order: CBA, Alagille syndrome, NH and controls. The ratio of cholate to chenodeoxycholate in the younger patients with Alagille syndrome was significantly higher than CBA (P less than 0.001). However, no specific bile acid pattern was found in Alagille syndrome by high-performance liquid chromatography (HPLC).

Recent studies suggested that the involvement of anti-SS-A and anti-SS-B antibodies in the pathogenesis of neonatal lupus erythematosus and congenital heart block. We here describe a female neonate with lupus erythematosus, advanced atrioventricular block, and a positive test for anti-SS-A antibodies. The findings of His-bundle recordings are presented.

A 7-year-old boy developed acute, severe hypercalcaemia following the partial excision of a cerebellar medulloblastoma. The serum calcium level was extremely high (19.8 mg/100 ml), but a skeletal survey revealed no apparent bone metastatic lesions; such lesions were only detected by X-ray 3 weeks after the onset of hypercalcaemia. Hypercalcaemia was promptly resolved by intravenous mithramycin administration, before which the serum parathyroid hormone level, 1,25-(OH)2-vitamin D level and the nephrogenous cyclic AMP level were low. However, the relation between serum calcium levels and urinary calcium excretions indicated that renal calcium reabsorption was increased in association with hypercalcaemia, suggesting that a parathyroid hormone-like effect was operative on the renal tubules. It is possible that a combination of increased bone resorption by metastatic tumour cells and renal tubular handling of calcium presumably mediated by tumour-produced humoral factors was responsible for the acute development of severe hypercalcaemia in this patient with medulloblastoma.

We describe a 7-year-old girl with precocious puberty in whom a single large cyst (5 cm) and several small cysts (8-10 mm) in the single remaining ovary were detected by the ultrasound examination. Endocrinological examinations confirmed the diagnosis of central precocious puberty. Pathologic findings after the removal of the cystic lesions revealed that the large cyst was derived from degenerated follicular cysts and the small cysts were identical to follicular cysts: all were considered to have been formed by gonadotropin stimulation. In general, surgical removal of an ovarian follicular cyst in central precocious puberty is inappropriate. However, in this unusual patient who had a degenerated large cyst, surgery seemed to be appropriate because of a previously removed teratoma in the contralateral ovary.

A 2-year-old boy, whose clinical abnormalities included growth retardation(3rd percentile), mild mental retardation (DQ = 67), microcephaly, hypertelorism, strabismus, prominent nasal bridge, stubby nose, pointed chin, undescended testes and hydronephrosis, had a ring chromosome 10. Using high-resolution banding technique, the breakpoints were decided at p15.3 and q26.3 of chromosome 10. The clinical features observed in this case were common in 8 other cases with ring chromosome 10 previously reported. Thus, the terminal deletion of both arms of chromosome 10 seems to be the cause of the specific clinical abnormalities. When a patient has the clinical common abnormalities above mentioned, ring chromosome 10 syndrome will be suspected before chromosome analysis.

The salivary concentration of 17-hydroxyprogesterone (17-OHP) was determined in 11 patients (aged 6 months to 13 years) with congenital adrenogenital syndrome (AGS) due to C21-hydroxylase deficiency and six healthy controls, in order to assess its value in monitoring treatment of AGS. Salivary 17-OHP was measured by a specific radioimmunoassay after extraction with dichloromethane. Only 100 microliters of saliva was needed for the assay. There was a good correlation (r = 0.93; P less than 0.01) between 17-OHP concentrations in paired saliva and serum samples from the patients and the control subjects. There was a wide scatter in salivary 17-OHP levels in the range between 164 ng/l (1.7 ng/ml in serum) of satisfactorily or overtreated patients and 15,500 ng/l (247 ng/l in serum) of undertreated patients. Levels in normal children were between 200 and 300 ng/l. It is concluded that treatment of congenital AGS (21-hydroxylase deficiency) can be carefully monitored in children with the noninvasive, frequently repeatable measurement of salivary 17-OHP.

A 13-year-old girl presenting with abdominal pain, polyuria, polydipsia, and radiologically confirmed renal calculi was diagnosed as having primary hyperparathyroidism. Laboratory data revealed markedly elevated serum calcium, low phosphorus, and elevated parathyroid hormone. Other parathyroid function tests also confirmed the diagnosis of primary hyperparathyroidism. Ultrasound examination showed a small echogenic nodule in the parathyroid gland. Following a single gland resection, the extremely high serum calcium level promptly decreased to normal range, and it has remained normal.

A rare case with Guillain-Barré syndrome complicated by inappropriate secretion of antidiuretic hormone (SIADH) and hypertension was reported. This case showed clinically mild symptoms without respiratory muscle paralysis and had a complete neurological recovery. It should, therefore, be considered that the Guillain-Barré syndrome may cause SIADH and hypertension independent of the severity of the disease.

We analyzed the populations of peripheral blood monocyte/macrophages in 27 patients using a fluorescence-activated cell sorter, and investigated the possibility, in another 30 patients, that tumor necrosis factor (TNF) might be detectable in serum during the acute phase of Kawasaki disease (KD). Percentages of peripheral blood monocyte/macrophages among mononuclear cells and serum TNF levels were both seen to increase during the acute phase of the illness in patients with KD. The percentage of TNF positive cases in KD patients with coronary involvement was higher than that of patients without coronary involvement. These results suggest the possibility that immunological activation, accompanied by the secretion of TNF from monocyte/macrophages, is an important predisposing condition for the exacerbation of vascular damage in KD.

A case of Kawasaki disease with precordial pain in a 6-year-old boy is described. Coronary arteriography revealed large aneurysms with subtotal obstruction of the left anterior descending artery and long-segment narrowings of the right coronary artery. The left ventriculogram revealed an old myocardial infarction of the inferoposterior wall of the left ventricle. The patient was given aortocoronary bypasses using both a left internal mammary artery and a fresh saphenous vein graft to the left anterior descending artery. Serial angiographic study, performed 6 weeks after the operation, revealed these grafts were both patent. Using the two techniques together may have the potential benefit of the saphenous vein bypass graft functioning as a temporary measure to ensure survival with the hope that the internal mammary artery supply will continue to grow.

An infant who died at 5 months with hypertrophic cardiomyopathy accompanied by QT prolongation was examined at autopsy. At the age of 16 days, serum IgM level was elevated (226 mg/dl). Microscopic examination revealed characteristics of hypertrophic cardiomyopathy with myocardial cell hypertrophy with disarray and healed myocarditis with patchy fibrosis and mononuclear cell infiltration. The histological findings were compatible with those of postmyocarditic cardiomegaly developing during the fetal period.