Maladie coeliaque associée à une maladie de Basedow et un déficit sélectif en IgA chez une fille de 4 ans

La maladie coeliaque est une entéropathie auto-immune, induite par l'ingestion du gluten chez des sujets génétiquement prédisposés. Son association à d'autres maladies auto-immunes est décrite. Néanmoins l'association de la maladie céliaque, la maladie de Basedow et le déficit en IgA sélectif est rarement relevée chez l'enfant. Nous rapportons l'observation exceptionnelle d'une fille âgée de 4 ans qui présente une maladie c'liaque associée à une maladie de basedow et un déficit sélectif en IgA.Pan African Medical Journal 2015; 2

Atypical parathyroid adenoma: A case report

Abstract The atypical parathyroid adenoma is a histological diagnosis. It is a parathyroid tumor with atypical histological features different from an adenoma and not similar enough to be considered as a carcinoma. It has an uncertain malignant potential. We report the case of a 55‐year‐old woman, diagnosed with severe hypercalcemia during her follow‐up with the rheumatologist for osteoporosis. The laboratory testing led to the detection of a very important level of parathormone PTH 1325.62 pg/ml (20 fold the normal level), confirming the diagnosis of primary hyperparathyroidism. Investigations of the potential causes led to the presence of a large left inferior parathyroid adenoma. The patient was operated and on the examination of the removed tissue, the histopathological examination concluded to an atypical parathyroid adenoma, and the post‐operatory PTH level dropped significantly to 152 pg/ml. The atypical parathyroid adenoma is a very rare tumor, and the diagnosis is still a challenge, the outcome of patients is not well known yet, there for the surveillance is important and must be regularly

Langerhans Cell Histiocytosis of the Thyroid Leading to the Diagnosis of a Disseminated Form

Langerhans cell histiocytosis (LCH) is a rare sporadic proliferative disorder of Langerhans cells. LCH rarely involves the thyroid gland. We report herein a case of a disseminated chronic form of LCH with a diagnosis established by histological examination of the thyroid gland. It is about a 37-year-old female who underwent total thyroidectomy for a thyroid nodule of the right lobe. Histological study showed a granulomatous thyroiditis, and the immunohistochemistry study revealed a strong positivity of histiocytes for the CD1 antigen and for the S100 protein. The incidence of LCH involving the thyroid gland, either as an isolated lesion or as a part of multisystemic disease, is extremely rare

Granulome annulaire généralisé, thyroïdite auto-immune et diabète insulinodépendant. A propos d’une observation

Les Auteurs rapportent l’observation d’un granulome annulaire généralisé survenu chez une patiente âgée de 16 ans présentant un diabète de type I. Un bilan immunologique pratiqué dans le cadre de son diabète, découvre des anticorps antimicrosomaux et des anticorps antigliadine de type IgA. La recherche des anticorps antigliadine de type IgG et des anticorps antiendomesium de type IgG était, par ailleurs, négative. Ce bilan traduit l’existence d’une thyroïdite auto-immune associée au diabète et fait suspecter une maladie coeliaque. Cette nouvelle observation de granulome annulaire, survenant sur un terrain dysimmunitaire, vient renforcer l’hypothèse d’une origine auto-immune du granulome annulaire

A Tunisian patient with two rare syndromes: triple a syndrome and congenital hypogonadotropic hypogonadism.

International audienceThe coexistence of triple A syndrome (AAAS) and congenital hypogonadotropic hypogonadism (CHH) has so far not been reported in the literature. This study aimed to characterize at the clinical and genetic level one patient presenting an association of AAAS and CHH in order to identify causal mutations.Clinical and endocrinal investigations were performed and followed by mutational screening of candidate genes. At the age of 18, the patient presented sexual infantilism, a micropenis and gynecomastia. No mutation was revealed in GnRHR, TACR3/TAC3, PROK2/PROKR2 and PROP1 genes, except a homozygous intronic variation (c.244 + 128C>T; dbSNP: rs350129) in the KISS1R gene, which is likely nondeleterious. A homozygous splice-donor site mutation (IVS14 + 1G>A) was found in the AAAS gene. This mutation, responsible for AAAS, is a founder mutation in North Africa.This is the first report on a Tunisian patient with the coexistence of AAAS and CHH. The diagnosis of CHH should be taken in consideration in patients with Allgrove syndrome and who carry the IVS14 + 1G>A mutation as this might challenge appropriate genetic counseling