OpenMed/multicare-articles huggingface dataset:
Precocious initiation of spermatogenesis in a 19-month-old boy with Hurler syndrome
Authors: Jean-Pierre Milazzo, Amandine Bironneau, Jean-Pierre Vannier, Agnes Liard-Zmuda, Bertrand Macé, Rives Nathalie
Journal: Basic Clin Androl (2014)
Keywords: androgen receptor, anti-müllerian hormone, hurler syndrome, spermatogenesis, testicular tissue
MeSH terms: Case Reports

Mucopolysaccharidosis type IH (MPS IH) is a rare autosomal recessive lysosomal storage disorder. Haematopoietic stem cell transplantation (HSCT) has been proposed for the treatment of MPS IH patients and offers the possibility to grow into their adulthood. Precocious puberty has been described in few MPS patients. We report, to the best of our knowledge and for the first time, the initiation of the first waves of spermatogenesis fortuitously observed in seminiferous tubules of a pre-pubertal 19-month-old boy, affected by MPS IH and who did not present any clinical signs of precocious puberty. This patient benefited from testicular tissue cryopreservation before HSCT. Seminiferous tubule size, germ cell differentiation and Sertoli cell expression of androgen receptor and anti-müllerian hormone corresponded to the pattern observed in a pubertal boy. The Hurler syndrome may be responsible for the precocious initiation of spermatogenesis. A specific follow-up during childhood may be useful to confirm if such abnormal testis development is common in young boys with MPS IH and if it may lead to precocious onset of puberty in survivors despite HSCT. Furthermore, we have observed that Sertoli cell maturation (up-regulation of AR expression, down-regulation of AMH expression) occurred before the clinical signs of puberty and before the increase of testosterone plasmatic level.
Secondary Hemophagocytic Lymphohistiocytosis With Epstein-Barr Virus-Associated Transformed Follicular Lymphoma: A Case Report and Literature Review
Authors: Huan Xu, Xia Xu, Guohui Cui, Jun Fang, Wanxin Chen, Mei Xue, Runming Jin, Hongbo Chen, Lu Zhang, Yu Hu
Journal: Front Oncol (2021)
Keywords: epstein–barr virus, bone marrow involvement, follicular lymphoma, hemophagocytic lymphohistiocytosis, histological transformation
MeSH terms: Case Reports

A 58-year-old male was admitted to our hospital due to lasting fever, progressive lymphadenopathy and bicytopenia, with a previously histological diagnosis of follicular lymphoma grade 3a with Epstein-Barr virus-encoded RNA positive one month ago. A second biopsy of axillary lymph node revealed concurrent diffuse large B-cell lymphoma with Epstein-Barr virus-encoded RNA positive. Another diagnosis of hemophagocytic lymphohistiocytosis secondary to Epstein-Barr virus positive diffuse large B-cell lymphoma was further concluded by clinical manifestation, laboratory test and atypical lymphocytes in peripheral-blood smear. After a pulse of steroid pre-phase treatment, the patient's clinical condition deteriorated and died in two weeks. The presence of Epstein-Barr virus infection in patients with follicular lymphoma is associated with more aggressive clinical course and increased risk of high-grade transformation. Hemophagocytic lymphohistiocytosis in response to Epstein-Barr virus infection or lymphoma remains fatal. Early diagnosis and initiation of treatment may improve the outcome.
Isolated Langerhans Cell Histiocytosis of the Vulva in a 28-Year-Old Lady: A Report of a Case and Brief Review of the Literature
Authors: Maryam Sadat Sadati, Nafiseh Todarbary, Fatemeh Sari Aslani, Maryam Hadibarhaghtalab
Journal: Case Rep Dermatol Med (2022)
MeSH terms: Case Reports

Langerhans cell histiocytosis (LCH) is a rare, proliferative disorder of Langerhans' cells. The presentation can vary from single organ involvement to multisystem and disseminated in severe cases, affecting children more than adults. Isolated vulvar involvement of LCH in a 28-year-old woman has rarely been described and also there are limited data for diagnosis and treatment. Herein, we report the case of a 28-year-old woman with isolated vulvar LCH, misdiagnosed with herpes simplex infection, successfully treated with thalidomide.
Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome
Authors: Othmane Miri, Nicolas Bonnet, Philippe Lysy, Naima Loucheur, René Gayito, Pierre Louis Docquier
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Noonan-like/multiple giant cell lesion (NS/MGCL) is a rare condition overlapping with Noonan syndrome. Once thought to be a specific and separate entity, it is now suggested to be a variant of the Noonan syndrome spectrum. We report the case of an 8-year-old boy with a typical clinical picture of Noonan syndrome with a de novo germline mutation of PTPN11 (c.854 T>C). During his follow-up, the patient developed multifocal pigmented villonodular synovitis which first affected the left knee and shortly after both elbows.