Stephen C. Duck

Cerebral Edema Complicating Therapy for Diabetic Ketoacidosis

Four cases of cerebral edema associated with therapy for diabetic ketoacidosis are reported. One patient had an inappropriate ADH-like syndrome at the time of onset of clinical symptoms of cerebral edema; he survived. The remaining patients had hyponatremia at or near the time of onset of clinical symptoms of cerebral edema, and they subsequently died. The literature is reviewed and some aspects of therapy, which might be casually related to cerebral edema observed in association with therapy of diabetic ketoacidosis, are discussed.

Evaluation of growth hormone release in children using arginine and L-dopa in combination*

L-Dopa in a dose ranging from 125-500 mg and arginine monochloride in a dose of 0.5 gm/kg were given simultaneously to 56 children with short stature (height less than third percentile). Sixteen of these children were subsequently diagnosed as having growth hormone deficiency. The diagnosis of hyposomatotropism was based on clinical findings and on responses to the combination test and to arginine and L-dopa administered as separate tests. All of the remaining 40 children had a normal GH response of greater than 6 ng/ml to the combination test. However, in this group, nine children were identified who responded to the combination test but who failed to respond to arginine and L-dopa in individual tests. The data suggest that a positive response to arginine and L-dopa in combination in children, who do not respond to the usual provocative tests when administered individually, may fail to identify children with partial GH deficiency who would benefit from treatment. The integrated stimulated GH response in the 31 children in whom a normal GH response to all three tests occurred suggests that the effects of L-dopa and arginine are additive.

Pseudohermaphroditism with testes and a 46, XX karyotype

A 14 4/12-year-old white girl, evaluated for progressive virilization and clitormegaly, was found to have the unusual combination of a 46, XX karyotype, well-developed Mullerian structures, and dysgenetic testes with Leydig cell hyperplasia. Although there have been previous case reports of 46, XX males, in all of these patients development of the Mullerian ducts had been suppressed. When contemporary classifications of human disorders of sexual differentation were reviewed, no report of a similar patient was found. We speculate that the genotype and phenotype in our patient correspond to the genetic intersexuality of the hornless goat, thereby raising the possibility that the human autosome may play a role in the control of sexual development.

Normal Intelligence in Female and Male Patients with Congenital Adrenal Hyperplasia

We provide evidence regarding the nature, causes, and consequences of intelligence in patients with 21-hydroxylase deficient congenital adrenal hyperplasia (CAH). Intelligence and quality of life (psychological adjustment) were measured on multiple occasions from childhood to young adulthood in 104 patients with CAH (62 females, 42 males) and 88 unaffected relatives (31 females, 57 males). Information on disease severity (CAH type, age at diagnosis, genital virilization for girls) and salt-wasting crises was obtained from medical records. There was no evidence of intellectual deficit in either female or male patients with CAH. Intelligence was not significantly associated with psychological adjustment or disease characteristics. CAH itself does not appear to increase risk for poor intellectual function. In a sample of patients with generally good disease control, intelligence is not related to adjustment problems, disease severity, or salt-wasting crises.

Current variability of clinical practice management of pediatric diabetic ketoacidosis in Illinois pediatric emergency departments.

Objective This study aimed to investigate the management of pediatric patients with diabetic ketoacidosis (DKA) presenting to emergency departments (EDs) participating in the Illinois Emergency Medical Services for Children (EMSC) Facility Recognition program. Methods In 2010, Illinois EMSC conducted a survey (including case scenarios) and medical record review regarding management of pediatric patients with DKA. Data were submitted by 116 EDs. Results Survey response rate was 94%. Only 34% of EDs had a documented DKA guideline/policy; 37% reported that they did not have hospital adult or pediatric endocrinology services. Case scenarios identified a high percentage of respondents given an intravenous (IV) isotonic sodium chloride solution of 10 to 20 mL/kg during the first hour. However 17% to 21% would use an alternative choice such as administering initial IV solution of 0.45 sodium chloride, initiating an insulin drip before fluids, or waiting for more laboratory results before giving fluids or insulin. A total of 532 medical record reviews were submitted. In 87% of records, patients received an initial IV isotonic sodium chloride solution within the first hour. In 74%, patients received IV insulin infusion/drip (0.1 U/kg/h) after the initial fluid bolus. Of the patients, 51% were transferred to another facility; 22% were admitted to an intensive care unit. Conclusions Best ED practice management of pediatric DKA includes establishing a specific guideline/protocol and ensuring access to a pediatric endocrinologist. Both were identified as improvement areas in this project. Illinois EMSC has developed an educational module and provided direct feedback to all participating EDs, to improve their management of pediatric patients with DKA.

Eruptive Xanthomas Masquerading as Molluscum Contagiosum

Eruptive xanthomas are cutaneous manifestations of hyperlipidemias in which lipids accumulate in large foam cells within the skin. They classically present as crops of 1- to 4-mm yellow-orange papules and are often associated with extreme hypertriglyceridemia. We describe a 12-year-old boy with autism who was thought to have widespread molluscum contagiosum for a year before dermatologic consultation was obtained. Recognition of eruptive xanthomas led to the discovery of massive hypertriglyceridemia (serum triglycerides 6853 mg/dL) and diabetes mellitus. Through medical intervention, including insulin and fenofibrate therapy, and dietary modification with weight loss, the xanthomas cleared during the subsequent months, and his serum triglyceride levels nearly normalized.

Behavioral Effects of Androgens and Disease Characteristics in Children with 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia † 401

Behavioral Effects of Androgens and Disease Characteristics in Children with 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia † 401

The Beneficial Effect of Angiotensin Converting Enzyme Inhibition with Captopril on Diabetic Nephropathy in Normotensive IDDM Patients with Microalbununuria

ues of blood pressure among persons with insulin-dependent diabetes mellitus (IDDM) was not addressed. All were followed up for 24 months in a multicentered, prospective, randomized, placebocontrolled, double-blind study of Captopril 50 mg p.o. b.i.d. The annual rate of change in albumin excretion rate (AER) fell by 17.9% with Captopril treatment compared with a rise ofAER by 11.8% with placebo. Treatment provided a 67.8% risk reduction for progression to persistent proteinuria (>200 pg/min) but did not prevent the development of persistent proteinuria (4 of 67; after 17-23 months of treatment) or the development of hypertension (2 of 70). Over the 2-year period, for every eight persons treated,