Lack of increased risk for extracranial, nonleukemic neoplasms in recipients of recombinant deoxyribonucleic acid growth hormone.

This report describes cases of new extracranial nonleukemic neoplasms in recombinant human GH (rhGH) recipients. The data are largely from the National Cooperative Growth Study (NCGS), with over 51,000 patient-years at risk from 12,209 patients treated with Protropin rhGH. In addition to case reports of extracranial tumors from the NCGS enrollees, there have been reports from non-NCGS patients. Ten cases of new extracranial neoplasms have been reported from this total study population, and there have been eight cases whose second neoplasms were extracranial in nature. For the new cases, the number of observed cases is compared with the number of expected cases, as derived from incidence rates published by the National Cancer Institute's SEER (Surveillance, Epidemiology, and End Results) Program. The standard morbidity ratio (SMR), defined as the number of observed cases/expected cases, is calculated for males and females separately, with further subgroup analysis based upon age. For the NCGS population, the SMRs were not statistically distinguishable from unity (i.e. 1). When the number of non-NCGS Protropin patients is estimated and SMRs are calculated for the total Protropin-treated group, the SMRs remain statistically indistinguishable from one. At present, these data suggest that rhGH does not increase the risk for developing nonleukemic extracranial neoplasms. Because a small number of additional cases could significantly alter the SMR calculations, meticulous reporting and continued surveillance must continue.

Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA).

We report three siblings (two boys and girl) with familial (autosomal recessive) infantile olivopontocerebellar atrophy (OPCA) associated with lower motoneuron involvement. Brain autopsy findings in two of the children revealed a multisystem degeneration characterized by marked hypoplasia of phylogenetically new parts of the brain stem (basis pontis and inferior olivary nuclei) associated with hypoplasia of the neocerebellum, both cerebellar and cerebral peduncle. All three infants died before six months of age. The clinical features are characterized by severe hypotonia, areflexia, failure to thrive, respiratory insufficiency in all cases, cardiomyopathy and dislocated hips at birth in two of the three siblings. Extensive serum, urinary and leukocyte enzyme assays in the second infant failed to disclose a specific metabolic abnormality. The diagnosis of OPCA was established prior to death by Magnetic Resonance Imaging (MRI) in the youngest infant. Since OPCA represents a heterogeneous group of diseases, correlation of neuropathologic, clinical, genetic and MRI findings at early stages of evolution becomes crucial in the understanding of the nosology of OPCA and its variants.

Facilitating intensive conventional insulin management using a manually operated syringe injector.

A manually operated 3-ml insulin catheter and syringe injector system was evaluated in 26 insulin-dependent ketosis-prone patients for a mean of 11 months per patient. Eighteen patients had normal kidney function, 5 had renal insufficiency (plasma creatinine 2.0-4.8 mg/dl) and 3 had successful kidney transplants. Regular insulin was infused 15-30 min before each meal. The subcutaneous route of delivery was used in all patients except the 3 renal transplant patients who received regular insulin intraperitoneally through a chronically placed intraperitoneal microbore catheter. Basal insulinization was obtained using subcutaneous long-acting insulin. Blood glucose control improved in all 3 groups of patients. Mean blood glucose decreased from 203 +/- 10-118 +/- 3 SEM; hemoglobin A1 decreased from 12.5 +/- 0.4-9.2 +/- 0.25 SEM (normal range 5-9%). We conclude that a manually operated syringe injector can be used to make multiple dose insulin management less painful and more convenient. The injector can be worn and activated beneath clothing and also worn while showering or swimming. Yet it can be removed while sleeping, when sexually active or when engaged in strenuous athletic activity.

Brief clinical report: new, autosomal dominant form of ectodermal dysplasia.

We describe a 15-year-old boy with an ectodermal dysplasia syndrome (EDS) associated with unilateral adrenal cyst. The EDS combination of aplasia cutis verticis, hypohidrosis, nipple/breast hypoplasia, onychodysplasia, and delayed dental eruption with minor tooth anomalies has not been previously reported as an autosomal dominant trait. The association with adrenal cyst may alert other units to review their experience to determine if such combination is more than a coincidence.