Alain Krivitzky

Sarcoidosis: Clinical, Hormonal, and Magnetic Resonance Imaging (mri) Manifestations of Hypothalamic-pituitary Disease in 9 Patients and Review of the Literature

Hypothalamic-pituitary (HP) sarcoidosis has 2 main endocrine manifestations: diabetes insipidus and hyperprolactinemia. We conducted the current study to investigate pituitary dysfunction and perform imaging of the HP area in patients both immediately following diagnosis and after treatment. The study included 6 men and 3 women, with a mean age of 30 years at the onset of sarcoidosis. All patients had both hormonal and magnetic resonance imaging (MRI) HP disorders. All patients had anterior pituitary dysfunction, 7 of them with associated diabetes insipidus. Nine patients had gonadotropin deficiency and 3 had hyperprolactinemia. MRI revealed infundibulum involvement in 5 patients, pituitary stalk thickness abnormality in 5, and involvement of the pituitary gland in 2, associated with other parenchymal brain or spinal cord lesions in 6 patients. All patients had multiple localizations of sarcoidosis, and 5 had histologically confirmed sinonasal localizations. Mean follow-up of the HP disorder was 7.5 years. All patients received prednisone. There was no correlation between the number of hormonal dysfunctions and the area of the HP axis involved as assessed by MRI. Although corticoid treatment was associated with a reduction of radiologic lesions, only 2 patients had partial recovery of hormonal deficiency. In conclusion, hormonal deficiencies associated with HP sarcoidosis frequently include hypogonadism (all patients) and to a lesser degree diabetes insipidus (7 of 9 patients). MRI abnormalities improved or disappeared in 7 cases under corticosteroid treatment, but most endocrine defects were irreversible despite regression of the granulomatous process. Most cases presented with multivisceral localizations and an abnormally high proportion of sinonasal localizations. Abbreviations: ACTH = adrenocorticotropic hormone, BHL = bilateral hilar lymphadenopathy, FSH = follicle-stimulating hormone, FT3 = free triiodothyronine, FT4 = free thyroxine, GH = growth hormone, GHD = growth hormone deficiency, GnRH = gonadotropin-releasing hormone, HP = hypothalamic-pituitary, IGF = insulinlike growth factor, LH = luteinizing hormone, MRI = magnetic resonance imaging, PRL = prolactin, TRH = thyrotropin-releasing hormone, TSH = thyroid-stimulating hormone.

Complete surgical lymph node resection does not prevent authentic recurrences of medullary thyroid carcinoma

BACKGROUND Medullary thyroid carcinoma is a rare tumour derived from the thyroid parafollicular calcitonin‐secreting cells. Calcitonin is a very specific marker of this cancer that allows preoperative diagnosis. Serum calcitonin assay is particularly useful to define the postoperative state of patients (cured, apparently cured, not cured) and, because of its great sensitivity, it has a major place in the postoperative follow‐up.

Idiopathic CD4 lymphocytopenia: clinical and immunologic characteristics and follow-up of 40 patients.

AbstractIdiopathic CD4 T lymphocytopenia (ICL) is a rare and severe condition with limited available data. We conducted a French multicenter study to analyze the clinical and immunologic characteristics of a cohort of patients with ICL according to the Centers for Disease Control criteria.We recruited 40 patients (24 female) of mean age 44.2 ± 12.2 (19–70) years. Patients underwent T-lymphocyte phenotyping and lymphoproliferation assay at diagnosis, and experiments related to thymic function and interferon (IFN)-&ggr; release by natural killer (NK) cell were performed. Mean follow-up was 6.9 ± 6.7 (0.14–24.3) years. Infectious, autoimmune, and neoplastic events were recorded, as were outcomes of interleukin 2 therapy.In all, 25 patients had opportunistic infections (12 with human papillomavirus infection), 14 had autoimmune symptoms, 5 had malignancies, and 8 had mild or no symptoms. At the time of diagnosis, the mean cell counts were as follows: mean CD4 cell count: 127/mm3 (range, 4–294); mean CD8: 236/mm3 (range, 1–1293); mean CD19: 113/mm3 (range, 3–547); and mean NK cell count: 122/mm3 (range, 5–416). Most patients had deficiency in CD8, CD19, and/or NK cells. Cytotoxic function of NK cells was normal, and patients with infections had a significantly lower NK cell count than those without (p = 0.01). Patients with autoimmune manifestations had increased CD8 T-cell count. Proliferation of thymic precursors, as assessed by T-cell rearrangement excision circles, was increased. Six patients died (15%). CD4 T-cell count <150/mm3 and NK cell count <100/mm3 were predictors of death.In conclusion, ICL is a heterogeneous disorder often associated with deficiencies in CD8, CD19, and/or NK cells. Long-term prognosis may be related to initial CD4 and NK cell deficiency.

Limbic encephalitis and type 1 diabetes with glutamic acid decarboxylase 65 (GAD65) autoimmunity: improvement with high-dose intravenous immunoglobulin therapy.

Glutamic acid decarboxylase antibodies (GAD-abs) are an immunological factor involved in type 1 diabetes and other diseases involving the central nervous system. This report is of a patient with type 1 diabetes and a rare case of non-paraneoplastic limbic encephalitis mediated by anti-GAD65 antibodies that improved with the use of immunosuppressive drugs.

Aplasia Cutis Congenita and Dysmorphic Syndrome After Antithyroid Therapy During Pregnancy

Aplasia cutis congenita (ACC) is alleged to be a side effect of antithyroid therapy during pregnancy. This occurrence is uncommon. Only 24 cases have been reported in the literature. In France, there has been no report by the National Center of Pharmacovigilance since 1985. We report a 39-year-old woman with no significant past history in whom Graves disease developed without eye symptoms. She was using methimazole 60 mg daily for 3 months, followed-up by propylthiouracil until delivery. At birth, the newborn had a scalp defect on the vertex, measuring 7- × 2-cm, transient hypothyroidism, and a dysmorphic syndrome (flat face, low-set ears, upper lip retraction, xiphoid funnel, finger-like claws, and low-set fifth finger). At age 1 year, the aplasia cutis was treated surgically. Aplasia cutis is a rare disorder, sometimes associated with other malformations. The mothers with hyperthyroidism who delivered children with reported cases of ACC have used either carbimazole or its active metabolite, methimazole, during early pregnancy. The relationship between methimazole or carbimazole therapy during pregnancy and ACC in the newborn remains to be proven. Nevertheless, to the authors’ knowledge, no case has occurred in which the mother has used only propylthiouracil. Therefore, consideration should be given to the exclusive use of propylthiouracil in pregnancy.