Isolated glucocorticoid deficiency: metabolic and endocrine studies in a 5-year-old boy

A 5-year-old boy is described who presented with episodes of hypoglycaemia triggered by mild infections or fever. Subnormal glucocorticoid production was confirmed by demonstrating low urinary excretion of free cortisol, low plasma cortisol concentrations that did not rise after glucagon and ACTH stimulation, and by elevated plasma ACTH levels. The selective nature of the abnormality was confirmed by demonstrating normal plasma electrolyte concentrations and blood pressure on a salt-restricted diet. Plasma renin activity and plasma aldosterone levels were also normal and responded appropriately to salt restriction and to frusemide-induced diuresis. Starvation-induced hypoglycaemia was associated with raised levels of blood ketone bodies and low blood alanine concentrations. Catecholamine secretion during hypoglycaemia was reduced. Glucocorticoid replacement therapy was effective in restoring normal glucose homeostasis.Smith and Nephew Research Fellow     

Subdural interhemispheric empyema in a 7-year-old boy

Subdural interhemispheric empyema was diagnosed by angiography and computerized tomography (CT) in a 7-year-old boy suffering from acute left hemiparesis. After neurosurgical intervention his condition improved. Peptostreptococcus intermedius was cultured from the empyema. One year after hospitalisation the boy is in good condition. The importance of the CT-scanning for diagnosis and management of brain abscess or empyema is stressed.     

Asymptomatic bladder phaeochromocytoma in a 7-year-old boy

Bladder phaeochromocytoma in a child is very rare. In the case presented here, it was an incidental finding in the youngest child reported in the literature. The phaeochromocytoma was located at the right ureterovesical junction causing obstruction, resulting in hydronephrosis. The dilemma in the diagnosis and management of this challenging condition is presented. The absence of typical symptoms of phaeochromocytoma is emphasized.     

Metabolic cataract in an 8-year-old diabetic boy

Cataracts are uncommon among children with insulin-dependent diabetes mellitus (IDDM); nonetheless, they could result in significant morbidity and a decrease in the life quality of these children. Duration of diabetes and metabolic control over the disease are important contributing factors in the development and advancement of cataract among diabetic pediatric patients. Ophthalmological examination at the time of IDDM diagnosis is recommended. Furthermore, persistent poor diabetic control and/or blurred vision in IDDM pediatric patients warrant prompt ophthalmological evaluation. We present the case of an 8-year-old with poorly controlled IDDM, who presented with bilateral cataract 27 months after his diagnosis with IDDM. We believe that such a presentation is rare; thus, increasing awareness of this particular diabetic complication is imperative.     

Combined neutrophil and erythrocyte agglutination in a 7-year-old boy

Leukoagglutination is a rare in vitro phenomenon, with demonstration of both temperature and/or ethylenediaminetetraacetic acid dependence. We report a case of combined leukocyte and erythrocyte agglutination in a 7-year-old male with Mycoplasma pneumoniae and Epstein-Barr virus coinfection. To our knowledge, this morphologic finding has not previously been described.     

Cardiac tamponade due to systemic lupus erythematosus in a 7-year-old boy with selective IgG subclass deficiency

Systemic lupus erythematosus (SLE) was observed in a 7-year-old boy with IgG₂ and IgG₄ subclass deficiencies who had been treated with immunoglobulin (100–200 mg/kg/4 weeks) since 2 years of age. The mother and the half-brother displayed the same deficiency. Serum IgG mainly consisted of IgG₁ (98.9%) during the acute phase of SLE due to transient IgG₃ deficiency. While he had no common manifestations of SLE such as arthritis or nephropathy, he developed cardiac tamponade due to massive pericardial effusion. Conclusion The clinical features of SLE in the present case such as the development of cardiac tamponade and the absence of renal involvement may result from the markedly imbalanced IgG subclass distribution among auto-antibodies. Received: 20 May 1997 and in revised form: 7 October 1997 / Accepted: 21 October 1997     

Isolated gonadotropin deficiency in a boy with hypotelorism and median facial defect

We diagnosed isolated gonadotropin deficiency in a 17-year-old boy with orbital hypotelorism and median cleft lip and palate.Abbreviations IGD isolated gonadotropin deficiency - GnRH gonadotropin-releasing hormone - TRH thyrotropin-releasing hormone - FSH follicle-stimulating hormone - TSH thyrotropin - GH growth hormone - LH luteinizing hormone     

Precocious puberty in a 7-year-old boy: A novel case

A 7-year-old boy was referred for evaluation of precocious puberty, evidenced by penile enlargement and pubic hair formation. His testicular size was prepubertal bilaterally. A comprehensive hormonal evaluation showed an elevated serum testosterone value (4.0 nmol/L) and a prepubertal gonadotropin value. A 0.9-cm heterogenous left testicular mass was detected on scrotal ultrasonography. Inguinal exploration was performed with ultrasound-guided open testicular biopsy and orchiectomy. Pathologic evaluation of the orchiectomy specimen showed the unclassified type of a mixed germ cell sex cord stromal tumor (MGCSCST), composed of neoplastic Sertoli cells and seminoma-like germ cells. Isolated previous reports of unclassified MGCSCSTs of the testis are now thought to be reports of sex cord stromal tumors with entrapped non-neoplastic germ cells. In our patient, the germ cells appeared to be neoplastic with aberrant expression of c-kit and placental alkaline phosphatase, a high proliferative rate, and DNA aneuploidy. Postoperatively, the patient's serum testosterone concentrations returned to prepubertal values (<0.2 nmol/L) and puberty was halted. This case represents a novel cause of precocious puberty.