Intraoperative identification of parathyroid gland pathology: a new approach.

Technetium 99m-sestamibi, a radiopharmaceutical used for the diagnostic imaging of abnormal parathyroid tissue, and the Neoprobe 1000, a hand-held, gamma-detecting probe, were used concurrently, during surgical exploration, in three children with hyperparathyroidism. This novel combination assisted with the identification of an ectopic mediastinal parathyroid adenoma and with the localization of multiple hyperplastic parathyroid glands. 99mTc-sestamibi combined with the Neoprobe 1000 may prove to be a useful adjunctive technique for the intraoperative localization of abnormal parathyroid tissue in selected patients.

Familial adrenal insufficiency, achalasia, alacrima, peripheral neuropathy, microcephaly, normal plasma very long chain fatty acids, and normal muscle mitochondrial respiratory chain enzymes.

Adrenal insufficiency has been associated with adrenoleukodystrophy and adrenomyeloneuropathy. In these diseases, plasma very long chain fatty acids are elevated. Peripheral neuropathy is frequently seen in adults with adrenomyeloneuropathy.

Evaluation of growth hormone release and human growth hormone treatment in children with cranial irradiation-associated short stature.

We studied nine children who had received cranial irradiation for various malignancies and subsequently experienced decreased growth velocity. Their response to standard growth hormone stimulation and release tests were compared with that in seven children with classic GH deficiency and in 24 short normal control subjects. With arginine and L-dopa stimulation, six of nine patients who received radiation had a normal GH response (greater than 7 ng/ml), whereas by design none of the GH deficient and all of the normal children had a positive response.

Primary systemic carnitine deficiency. II. Renal handling of carnitine.

Renal tubular reabsorption rates, reabsorptive maxima, and apparent renal plasma excretory thresholds for carnitine were determined in four children with primary systemic carnitine deficiency (SCD), in two of the mothers of these children, in one patient with muscle carnitine deficiency (MCD), and in seven controls. In SCD the observed values were well below those found in six of seven controls, but one control, a healthy 20-year-old woman with normal muscle carnitine level, also exhibited a renal carnitine leak. In the two mothers of patients with SCD and in the case of MCD some of the parameters of the renal handling of carnitine were slightly altered.

Successful spleno-renal shunt and splenectomy in two patients with alpha-1-antitrypsin deficiency.

Recent evidence suggests that the cirrhosis of alpha-1-antitrypsin deficiency is not invariably fatal as it was previously thought. Portal hypertension is often the major determinant of survival. The few reports of porta-systemic venous anastomosis in this disorder have shown poor results or uncertain outcome.

The combined effect of growth hormone and oxandrolone in patients with growth hormone deficiency.

Twenty patients with growth hormone deficiency ranging in age from 5 5/12 to 15 8/12 years were treated for 12 months with a combination of human growth hormone and oxandrolone, followed by a period of six months off both medications. Eight of the patients received the combined therapy during the first year of hGH treatment, and 12 during either the second or fourth years of hGH administration. In considering growth velocity alone, the addition of anabolic steroid was beneficial.

Reye syndrome in siblings.

Reye syndrome in siblings was seen in three of 85 families; the incidence of RS in these family groups appears to exceed that of the general population. The interval between development of RS in the first and second siblings was two to 11 days and related to the incubation period of the initial viral infection. In five of the children this infection was chickenpox and in two, an unspecified upper respiratory illness.

Cerebral gigantism and primary hypothyroidism: pleiotropy or incidental concurrence.

An 8.5-month-old baby girl had cerebral gigantism and primary hypothyroidism with generalized large muscles (the Kocher-Debré-Semelaigne syndrome). The significance of this association remains to be determined.

Dominant inheritance of cerebral gigantism.

Cerebral gigantism is a syndrome consisting of characteristic dysmorphic features, accelerated growth in early childhood, and variable degrees of mental retardation. Its etiology and pathogenesis have not been defined. Three families are presented with multiple affected members.