Endocrine status in patients with optic nerve hypoplasia: relationship to midline central nervous system abnormalities and appearance of the hypothalamic-pituitary axis on magnetic resonance imaging.

We here: 1) describe the phenotypic spectrum, including magnetic resonance imaging (MRI) appearances of the pituitary stalk and anterior and posterior pituitary [H-P (hypothalamic-pituitary) axis], in children with optic nerve hypoplasia (ONH) with or without an abnormal septum pellucidum (SP); and 2) define endocrine dysfunction according to the MRI findings. Medical records of 55 children with ONH who had been assessed by ophthalmology and endocrine services were reviewed. All had MRI of the brain and H-P axis. Forty-nine percent of the ONH patients had an abnormal SP on MRI, and 64% had a H-P axis abnormality. Twenty-seven patients (49%) had endocrine dysfunction, and 23 of these had H-P axis abnormality. The frequency of endocrinopathy was higher in patients with an abnormal SP (56%) than a normal SP (39%). Patients were divided into four groups based on SP and H-P axis appearance: 1) both normal; 2) abnormal SP and normal H-P axis; 3) normal SP and abnormal H-P axis; and 4) both abnormal. The frequency of multiple pituitary hormone deficiency was highest (56%) in group 4, lower (35%) in group 3, and even lower (22%) in group 2. Precocious puberty was most common in group 2. None of the patients in group 1 had endocrine dysfunction. Thus, SP and H-P axis appearances on MRI can be used to predict the likely spectrum of endocrinopathy.

[Metaphyseal chondrodysplasia]. / Metafysaer kondrodysplasi.

Metaphyseal chondrodysplasia (MCD) is a heterogeneous group of diseases characterised by defective enchondral ossification, leading to metaphyseal changes. The different types of MCD can be distinguished by clinical findings, radiology and genetic tests. Based on a case story with MCD, pancreatic insufficiency and granulocytopenia (Shwachman's syndrome), we review the most common types of MCD with regard to clinical manifestations, radiological findings, and genetic background.

Height and weight pattern up to 20 years after treatment for acute lymphoblastic leukaemia.

OBJECTIVE: To assess height and body mass index standard deviation scores up to 20 years after treatment for acute lymphoblastic leukaemia (ALL). SUBJECTS AND METHODS: Height and body mass index standard deviation scores were measured in 33 patients (14 boys and 19 girls) with childhood ALL at diagnosis, after the end of treatment, at final height, and at follow up 10-20 years (median, 16.2) after diagnosis. Eleven patients were treated with chemotherapy only and 22 patients were treated with chemotherapy and cranial irradiation. RESULTS: In the chemotherapy only group, height standard deviation scores were the same at follow up as at diagnosis, but there was a significant decrease in height standard deviation scores during treatment. Mean body mass index standard deviation scores increased steadily from the start of treatment until final height and continued to increase from final height until follow up. In the cranially irradiated group, mean height standard deviation scores decreased steadily from the start of treatment until follow up. Mean body mass index standard deviation scores increased continuously from the start of treatment until final height and from final height until follow up. CONCLUSION: Chemotherapy combined with cranial irradiation and chemotherapy alone might be persisting risk factors for obesity even after final/height has been attained in patients treated for childhood ALL. Chemotherapy is a risk factor for reduced final height only when administered in combination with cranial irradiation. These problems need to be recognised and dealt with at follow up examination.

Growth and endocrinological disorders up to 21 years after treatment for acute lymphoblastic leukemia in childhood.

BACKGROUND: Our aim was to evaluate endocrinological status 10-21 years after treatment for childhood acute lymphoblastic leukemia (ALL) with chemotherapy (C) and cranial irradiation (C + I) or only C, and to correlate the endocrine data with growth parameters. PROCEDURE: Of 30 patients (15 females and 15 males), 18 were treated with C + I and 12 were treated with C only. Height standard deviation score (HSDS) and body mass index standard deviation score (BMISDS) before treatment, at end of treatment, and at follow-up were calculated from height and weight registered from the charts. At follow-up examinations, provocative growth hormone (GH) tests (clonidine and insulin tolerance test) and an ACTH test were performed. Furthermore, blood samples for hormonal analysis, IGF-I, IGFBP-3, GHBP, and leptin were drawn. RESULTS: Eleven patients (9 treated with C + I and 2 treated with C) showed insufficient response to GH tests. Two patients had hypogonadism. HSDS and IGF-I were significantly lower and GHBP significantly higher in GH-deficient patients compared to the group with normal GH secretion at follow-up. BMISDS steadily increased from start of treatment until follow-up, independent of GH status at follow-up. BMISDS at follow-up was positively correlated with serum leptin (P < 0.001), and serum leptin was significantly higher in the cranial irradiated group as compared to the nonirradiated group. CONCLUSIONS: GH deficiency is frequently found at long-term follow-up in patients treated for childhood ALL. Other hormonal deficiencies are rare. HSDS at long-term follow-up is dependent on GH secretory status. Long-term endocrinological follow-up examinations in patients treated for childhood ALL are recommended, as hormonal replacement therapy may be indicated.

[Metaphyseal chondrodysplasia as differential diagnosis to rickets]. / Metafysaer kondrodysplasi som differentialdiagnose til rakitis.

Metaphyseal chondrodysplasias are a heterogeneous group of rare disorders, with flaring and irregularity of various metaphyses. The radiographic changes are similar to rickets, but calcium and phosphorus metabolism is normal. Other types are Schmid, Spahr, McKusick, Schwachman and Jansen, which can be separated by clinical, radiographic, genetic and biochemical criteria. We present a patient with metaphyseal chondrodysplasia, Schmid type, whose bone disorder was thought to be rickets and was treated as such.

[Late endocrine and growth sequelae after cancer treatment in children]. / Endokrine og vaekstmaessige senfølger efter cancerbehandling af børn.

Growth and endocrinological disturbances are possible late side-effects of cancer treatment in childhood. These side-effects can be treated, thus their discovery is important. The side-effects particularly appear in the years following treatment with irradiation and/or alkylating chemotherapy. After irradiation of the brain or the neck the function of the thyroid and the parathyroid glands should be tested every third month the first year, and later on annually. Two years after the end of treatment, the patient should be examined for growth hormone deficiency. This examination should be carried out annually. One should be alert to symptoms of pubertas praecox the years prior to puberty. At the age when puberty is expected and thereafter one should look for signs of secondary hypogonadism. Primary hypogonadism may follow radiotherapy below the diaphragm and/or treatment with alkylating chemotherapeutics; further, reduced fertility in men and early menopause in women may follow these treatments. The bone structure of the face and the teeth may be damaged by radiation and chemotherapy, so therefore yearly examination by a dentist with specialty in this subject is recommended. Surgery in order to improve function may be a possibility.

The effect of nifedipine and captopril on platelet activation and prostanoid production in essential hypertension.

Sixteen patients with mild to moderate essential hypertension were randomly allocated to 6 weeks of treatment with nifedipine and captopril in a crossover trial. Nifedipine and captopril lowered blood pressure significantly both 2 and 12 h after the last dose. Apart from an increased heart rate 2 h after the last dose of nifedipine, the heart rate did not change. Platelet factor 4, thromboxane B2, 6-keto prostaglandin F1 alpha (6-keto PGF1 alpha) and cyclic (c)AMP did not change during either therapy. There was no correlation between the plasma concentration of nifedipine measured 2 and 12 h after the last dose and the platelet variables described above. The findings show that nifedipine and captopril in therapeutic doses do not affect platelet activity in patients with mild to moderate essential hypertension.

Pheochromocytoma diagnosed in an enuretic boy after imipramine-induced hypertension.

A pheochromocytoma was diagnosed in a 14-year-old boy developing hypertension after treatment with imipramine for primary nocturnal enuresis. The mechanism of action is assumed to be an inhibition of the neuronal uptake of catecholamines being released in large quantities from the tumor. The diagnosis of pheochromocytoma should be considered in patients developing hypertension during treatment with cyclic antidepressants.