Cushing's syndrome in childhood and adolescence

Objective: To review the diagnosis, management and outcome of Cushing's syndrome in children and adolescents.
Methods: We conducted a retrospective review of nine cases treated between 1976 and 1996 at the Royal Children's Hospital, Melbourne, Australia.
Results: Six children with Cushing's disease and three with primary adrenal disease were identified. Mean age at diagnosis in the Cushing's disease patients was 11.3 years and in the children with primary adrenal disease 9.5 years. The most common presenting symptoms were weight gain and delayed growth. Two children had the unusual presenting symptoms of an eating disorder and hemihypertrophy, respectively. Laboratory diagnosis of Cushing's syndrome was established by demonstration of elevated urine free cortisol, loss of normal diurnal variation of serum cortisol, and loss of suppressibility of cortisol secretion by low dose dexamethasone. Investigations used to determine the aetiology of hypercortisolism included serum adrenocorticotropic hormone (ACTH) levels, high dose dexamethasone suppression tests, imaging studies, and inferior petrosal sinus sampling. Four patients with Cushing's disease had successful transphenoidal adenomectomies. Two patients with bilateral primary pigmented nodular adrenocortical dysplasia underwent bilateral adrenalectomies. One child with an adrenal adenoma was treated by left adrenalectomy.
Conclusions: Cushing's syndrome in children and adolescents remains a diagnostic challenge. Successful treatment often requires the use of multiple tests to achieve the correct diagnosis, appropriate surgery and a good long-term outcome.     

Breastfeeding and chronic disease in childhood and adolescence

A growing body of research suggests that infant feeding practices influence the risk for several chronic diseases of childhood and adolescence. Increased risks for type 1 diabetes, celiac disease, some childhood cancers, and inflammatory bowel disease have been associated with artificial infant feeding and short-term breastfeeding. As genetic susceptibility is understood more completely and gene-environment interactions are elucidated, evidence to either confirm or refute these findings will be forthcoming.     

Clinical and therapeutic properties of Cushing's disease in childhood.

Cushing's disease (CD) in adolescence and childhood is a rare pathology and has some different clinical and therapeutic characteristics than in adults. We report 3 cases treated surgically, with the diagnosis of CD. Their common complaints were short stature and obesity. Endocrinological investigations and radiological evaluation pointed out the diagnosis of CD for all children. They were operated on by the transsphenoidal route, and adenoma resection was performed. Histopathologic and immunohistochemical examination of the tissue specimens confirmed the diagnosis of CD. Long-term follow-up demonstrated weight loss and increase in height.     

Recurrence of Cushing's disease in childhood after radiotherapy-induced remission

A 16-year-old female patient with recurrent Cushing's disease (CD) underwent successful treatment with pituitary irradiation. Within one year after radiotherapy, cortisol levels had returned to normal (but with continued absence of diurnal variation), growth velocity improved, and puberty ensued. Five years after treatment, the patient developed clinical and biochemical evidence of recurrent CD. The high baseline evening corticotropin level (9 pmol/L [40 pg/mL]) was unresponsive (maximum level, 10 pmol/L [46 pg/mL]) to stimulation with ovine corticotropin-releasing hormone (CRF). In patients with CD treated with radiotherapy, the corticotropin response to CRF stimulation may not be reliably compared with that of normal control values. After pituitary adenomectomy, the corticotropin concentration was still unresponsive to CRF. We suggest that the pituitary tumor was secondary to abnormal hypothalamic CRF regulation not corrected by pituitary irradiation; therefore, CD may recur despite pituitary irradiation.     

Sonography in the diagnosis of Hodgkin's disease in childhood and adolescence

We are reporting about the results of the staging by ultrasound in 11 children with Hodgkin's disease. Sonography stands the test as a method that reliably predicts abdominal involvement in patients with Hodgkin lymphoma. Only in a few cases an indication for an additional computerized tomography is given. A demonstration of typical ultrasonic findings takes place.     

Chemotherapy and irradiation in childhood Hodgkin's disease.

Eighty children aged less than 16 years with newly diagnosed Hodgkin''s disease were treated between 1974 and 1982. Complete remission occurred in 95%, with actuarial five year overall survival of 94%, and relapse free survival of 82%: median follow up was 4.8 years. Sixty one children were staged clinically while 19 had staging laparotomies before treatment. Most received combined modality treatment with Ch1VPP chemotherapy (chlorambucil, vinblastine, procarbazine, and prednisolone) followed by irradiation of initial bulk disease. Nodular sclerosis predominated in both sexes, accounting for 60% of the total. Girls with stage IV disease, nodal sclerosis histology, and bulky mediastinal masses had a relatively poor prognosis. Ten children have relapsed, and three prolonged (6 to 7 years) second remissions have been observed. Four died of disease, and one from infection. Clinical staging, avoiding splenectomy, reduced the risk of serious infections. Our current policy is to treat stage IA disease with local irradiation and all other stages with chemotherapy, adding irradiation for bulky mediastinal disease.     

Panniculitis in childhood and adolescence

Background: The purpose of the present paper was to describe the clinical manifestations and treatment of patients with panniculitis. Methods: From January 1983 to December 2002, 4294 patients were treated for pediatric rheumatological diseases at Pediatric Rheumatology Unit, University of São Paulo, Brazil. Of these, 35 children and adolescents (0.8%) presented with panniculitis: erythema nodosum (EN) or Weber–Christian disease (WCD). Clinical characteristics, laboratory exams, biopsy of the lesion, treatment and clinical course were studied. Results: Of the 35 patients, 29 presented with EN and six with WCD, one of these with cytophagic histiocytic panniculitis. Mean age at symptom onset was 85 months (6–204 months) and the mean duration of follow up was 55 months (1–144 months). All the patients presented with inflammatory subcutaneous nodules. The patients with WCD presented with systemic manifestations and cutaneous atrophy. The principal etiologies of EN were streptococcal infection (42%), undetermined (13.5%), pulmonary tuberculosis (10%), and acute rheumatic fever (10%). Biopsy of the nodules indicated septal panniculitis in 14 patients with EN and lobular panniculitis without vasculitis in the patients with WCD, one of which had cytophagic histiocytic panniculitis. There was recurrence in 11 patients (38%) with EN and in all those with WCD. Non‐steroidal anti‐inflammatory drugs were used in 15 patients with EN and corticosteroids and/or immunosuppressive drugs in the six patients with WCD. Three patients died. Conclusions: EN is the most frequent panniculitis, with a benign course and is mainly associated with infections. WCD is a severe disease, with systemic involvement, that proceeds with cutaneous atrophy and requires the use of corticosteroids and or immunosuppressive drugs.     

Rheumatism in childhood and adolescence

Indian Journal of Pediatrics -     

Familial Cushing's disease with severe weight loss occurring in late childhood

We describe a rare case of familial Cushing's disease occurring in a 7-year-old boy, and 19 years of follow up. Our patient first presented soon after his maternal aunt had been treated for Cushing's disease. The clinical presentation was made complicated by the development of an intercurrent eating disorder resembling anorexia nervosa. This resulted in marked weight loss, and even though serum and urinary cortisol levels were elevated, many of the clinical stigmata of Cushing's disease were absent. Eating disorders are relatively uncommon in boys, and in this case there was an organic cause for the abnormal behaviour. This case shows, furthermore, that even the obesity of Cushing's disease can be overcome by the combination of diet and exercise.