Malignant ectomesenchymoma. Case report and review of the literature.

Malignant ectomesenchymoma is an uncommon neoplasm composed of neuroectodermal elements and one or more mesenchymal neoplastic elements. It is believed to arise from remnants of migratory neural crest cells (ectomesenchyme). The authors report the clinical and pathological findings of a 3-year-old girl with malignant ectomesenchymoma of the CNS. Embryogenesis of this tumor is discussed, and a review of the literature with 39 other cases is done.

Rathke's cleft cyst as a cause of growth hormone deficiency and micropenis.

Rathke's cleft cyst has rarely been reported in pediatric patients, and such cysts are usually found by chance, in 2-33% of routine necropsies, as they have not interfered with pituitary function. In general, they are intrasellar with a single layer of ciliated cuboidal or columnar epithelium containing mucoid material. The age range in which symptomatic Rathke's cleft cysts occur is between 30 and 60 years. This paper reports an 8.1-year-old boy presenting with growth hormone deficiency and micropenis attributable to hypogonadotropic hypogonadism (HH), implying altered pituitary function since intrauterine life. At this age (before puberty) the diagnosis of HH can be made by means of the LHRH agonist stimulation test, since conventional LHRH is not able to discriminate HH from a normal prepubertal child. To our knowledge, this is the first case of micropenis caused by Rathke's cleft cyst interfering with gonadotropin and growth hormone secretion since intrauterine life.

Pituitary macroadenoma and Cushing's disease in pediatric patients: patient report and review of the literature.

Cushing's syndrome in pediatric patients has been rarely reported and most of the cases are due to adrenal tumors. When the etiology is an ACTH-secreting pituitary adenoma, most often it is a microadenoma. We report on a 9 year-old girl with an ACTH-secreting macroadenoma, whose surgical removal through transsphenoidal approach was extremely difficult due to invasion of the cavernous sinus as well as adjacent structures. After two surgical approaches and stereotactic radiotherapy, she still suffers from the deleterious effects of hypercortisolism, especially marked osteoporosis with vertebral collapse, which interferes with her walking and causes excruciating pain. Two months after the radiotherapy, we still had doubts about the prognosis regarding the persistence of the hypercortisolism. From six months on, her general health started improving, she lost weight, the backache disappeared and her cortisol level returned to normal.

Primary hyperparathyroidism in children: patient report and review of the literature.

Although primary hyperparathyroidism has rarely been described in pediatric patients, prompt diagnosis can avoid severe CNS and metabolic consequences. The aim of this paper is to report a 6 year-old girl whose first symptoms began at eight days of age with cyanosis, hypotonia, and upward gaze deviation. At 4 months, she was admitted due to neurologic disorders and recurrent infection, but the definite diagnosis was made only six years later. Her serum calcium levels are among the highest ever reported in the medical literature, reaching 25.5 mg/dl (6.36 mmol/l). Hypercalcemia, very high levels of parathormone (1550 ng/l--normal range 10-65) and bone deformities posed no problem to diagnosis when she first came to our attention. Nephrocalcinosis and impaired renal function were detected and this child had to be treated with diuretics (furosemide) and hydration that were able to lower her serum calcium levels. Imaging studies including 99mTc-sestamibi scan were not diagnostic. At surgery, the four parathyroid glands were mildly enlarged, with primary hyperplasia. The four glands were removed, cryopreserved, and 14 fragments (1 mm each) were autotransplanted to the braquioradial muscle of the left forearm. After a first phase of hypocalcemia (hungry-bone syndrome), treated with calcium and calcitriol, the calcium levels stabilized. The question is whether she will experience some degree of recovery from her neurological problems, since her severely high calcium levels have been maintained for such a long time.