[Paragangliomas: clinical and secretory profile. Result of 39 cases]. / Paragangliomes: profil clinique et sécrétoire. A propos de 39 cas.

THIS RETROSPECTIVE STUDY AIMS: To define a clinical and secretory profile of paragangliomas extra-adrenal chromaffin tumors. METHODS: From 1971 throughout 2002, 39 paragangliomas have been observed in 38 patients (22 male, 16 female, average age 41,2 years). RESULTS: Four were located above the diaphragm, 35 were sub-phrenic (6 of the organ of Zuckerkandl), 32 secreted catecholamines, 23 were hypertensive (with only one without hypersecretion of catecholamines). Among 29 (131)I-metaiodobenzylguanidine scans (MIBG) reviewed, 20 tumors took up the radiopharmaceutical. The treatment was surgical in 35 cases with addition of external radiotherapy and MIBG in one case each; two patients died before any treatment. Two patients with persistent disease after surgery were successfully treated by surgery or MIBG. Histologically, 20 were malignant and 17 were seemingly benign. All exclusive dopamine secreting paragangliomas were malignant. Six patients relapsed two of which for a tumor initially classified as benign. The treatment of recurrences was surgical, by MIBG or by external radiotherapy. Nine patients had a family history of chromaffin tumor(s). The genetic survey made in five of these nine patients was positive in all cases.

Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities.

Diseases due to mutations in the lamin A/C gene (LMNA) are highly heterogeneous, including neuromuscular and cardiac dystrophies, lipodystrophies, and premature ageing syndromes. In this study we characterized the neuromuscular and cardiac phenotypes of patients bearing the heterozygous LMNA R482W mutation, which is the most frequent genotype associated with the familial partial lipodystrophy of the Dunnigan type (FPLD). Fourteen patients from two unrelated families, including 10 affected subjects, were studied. The two probands had been referred for lipoatrophy and/or diabetes. Lipodystrophy, exclusively observed in LMNA-mutated patients, was of variable severity and limited to postpubertal subjects. Lipodystrophy and metabolic disturbances were more severe in women, even if an enlarged neck was a constant finding. The severity of hypertriglyceridemia and hirsutism in females was related to that of insulin resistance. Clinical muscular alterations were only present in LMNA-mutated patients. Clinical and histological examination showed an invalidating, progressive limb-girdle muscular dystrophy in a 42-yr-old woman that had been present since childhood, associated with a typical postpubertal FPLD phenotype. Six of eight adults presented the association of calf hypertrophy, perihumeral muscular atrophy, and a rolling gait due to proximal lower limb weakness. Muscular histology was compatible with muscular dystrophy in one of them and/or showed a nonspecific excess of lipid droplets (in three cases). Immunostaining of lamin A/C was normal in the six muscular biopsies. Surprisingly, calpain 3 expression was undetectable in the patient with the severe limb-girdle muscular dystrophy, although the gene did not reveal any molecular alterations. At the cardiac level, cardiac septal hypertrophy and atherosclerosis were frequent in FPLD patients. In addition, a 24-yr-old FPLD patient had a symptomatic second degree atrioventricular block. In conclusion, we showed that most lipodystrophic patients affected by the FPLD-linked LMNA R482W mutation show muscular and cardiac abnormalities. The occurrence and severity of the myopathic and lipoatrophic phenotypes varied and were not related. The muscular phenotype was evocative of limb girdle muscular dystrophy. Cardiac hypertrophy and advanced atherosclerosis were frequent. FPLD patients should receive careful neuromuscular and cardiac examination whatever the underlying LMNA mutation.

New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family.

A large inbred Lebanese pedigree with congenital spastic ataxia, microcephaly, optic atrophy, short stature, speech defect, abnormal osmiophilic pattern of skin vessels, cerebellar atrophy, and severe mental retardation transmitted as an autosomal recessive trait has been studied. None of the children had any evidence of a metabolic disease, and the analysis of respiratory chain complex abnormalities was unremarkable. Only one child had a history of perinatal difficulties. Differential diagnosis and the possibility that this disorder is a hitherto unreported one are discussed.

[Normal values of plasma methoxyamines in the setting of renal insufficiency and peri-operative stress. Consequences for the etiological diagnosis of hypertension]. / Valeurs normales des méthoxyamines plasmatiques en situation d'insuffisance rénale et de stress péri-opératoire.

INTRODUCTION: HPLC plasma methoxyamines measurements are the updated technique for the diagnosis of adrenergic hypersecretion. Their reliability meets that of urinary measurements. Significance of increased values is not yet fully established for the etiological diagnosis of hypertension in some situations, especially in case of renal insufficiency and in the peri-operative period. The aim of this study is to define the "normal" range of the values of plasma methoxyamines in both of those conditions. PATIENTS AND METHODS: in a General and Endocrine Surgical Unit, 3 homogeneous group of 20 patients each have been studied: group 1, control (patients awaiting thyroidectomy); group 2, patients on maintenance hemodialysis submitted for hyperparathyroidism; group 3, patients submitted to digestive surgery. Measurements were done pre-operatively in group 1, pre and post-operatively in group 2, and post-operatively in group 3. RESULTS: in comparison to the control (11.8 nmol/l), we observed in group 2 a 18 fold increase preoperatively, and a 29 fold increase at post-operative day 1. In group 3, we observed a 2.3, 2.7 and 2 fold increase at post-operative days 1,2 and 3 respectively. All those results were statistically significant. CONCLUSION: Results of measurements of plama methoxyamines should always be matched to the serum creatinine levels. They are meaningful for the diagnosis of endocrine origin of hypertension only late after the early post-operative period.