Cushing syndrome as a presenting symptom of renal tumors in children.

Cushing syndrome as the presenting symptom of a malignant renal tumor in children is rare. We report the first case of paraneoplastic Cushing syndrome due to a Wilms tumor, in which clinical and biological signs of hypercortisolism regressed during preoperative chemotherapy. Additionally, we reviewed the literature on paraneoplastic Cushing syndrome secondary to pediatric renal tumors.

[Primary amenorrhea: constitutional delayed puberty or hormonal disturbance]. / Primaire amenorroe: constitutioneel vertraagde puberteit of hormonale stoornis.

Investigations were carried out in 2 women of 17 and 18 years with primary amenorrhea, normal external female genitalia and delayed secondary sexual characteristics, for the reasons for delayed puberty. The 17-year-old patient had reduced values of FSH, LH and oestradiol. This disturbance in the hypothalamo-hypophysary axis was caused by hydrocephalus. Menarche occurred following drainage of the fluid. The 18-year-old patient had raised values ofFSH and LH and a lowered oestradiol value. There was therefore a disfunction existing at ovarian level, which appeared to be caused by an XX-gonadal dysgenesis. The patient was treated with hormones which led to breast development and menarche taking place. The cause ofprimary amenorrhea can mainly be divided into three categories: constitutional delayed puberty, delayed puberty due to hypogonadotropic hypogonadism, or delayed puberty due to hypergonadotropic hypogonadism. A carefully taken medical history, together with determination of the serum levels of FSH and LH, is helpful in differentiating between these categories. Subsequently, structured clinical management must be performed in order to approach the differential diagnosis of each of these categories, which will then be followed by the final diagnosis.

Decreased homovanillic acid concentrations in cerebrospinal fluid in children without a known defect in dopamine metabolism.

Homovanillic acid (HVA) is a metabolite of dopamine, reflecting central dopamine metabolism, primarily situated in the striatum. Low HVA concentrations in the cerebrospinal fluid (CSF) may indicate metabolic deficiencies in the pathways of the biosynthesis or catabolism of dopamine. In this retrospective study, we investigated the clinical presentation of patients whose HVA concentration in the CSF had been determined routinely after spinal taps for a variety of clinical reasons. A decrease of HVA concentration in the CSF, due to a defect in the biosynthesis or reuptake of dopamine, is expected to cause extrapyramidal features. However, we found a remarkable variability in the clinical symptoms. Similarly, a decreased HVA concentration in the CSF failed to coincide with specific abnormalities at neuroimaging. In view of the diversity of the clinical presentation and in the absence of specific enzyme deficiencies, a decrease of HVA may be due to dysfunction of dopamine neurons, not resulting in specific extrapyramidal symptoms. Thus, with the exception of diseases associated with a specific enzyme deficiency in the metabolic pathways involving dopamine, a decrease of HVA concentration in the CSF is mainly a secondary or epiphenomenon in a variety of clinical conditions.