scholarly journals A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome

2017 ◽  
Vol 5 ◽  
Author(s):  
Gianluigi Laccetta ◽  
Francesca Moscuzza ◽  
Angela Michelucci ◽  
Andrea Guzzetta ◽  
Sara Lunardi ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Missense Mutation ◽  
Sotos Syndrome ◽  
Italian Family ◽  
Three Generations ◽  
Family Case

scholarly journals Only a Touch of the Flu? The Simultaneous Manifestation of Acute Necrotizing Encephalopathy in Two Consanguineous Patients

2015 ◽  
Vol 2 (2) ◽  
Author(s):  
C. Bloch ◽  
B. Suter ◽  
A. Fischmann ◽  
H. Gensicke ◽  
S. Rüegg ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Missense Mutation ◽  
Autosomal Dominant ◽  
Treatment Strategies ◽  
Influenza B ◽  
Acute Encephalopathy ◽  
Acute Necrotizing Encephalopathy ◽  
Acute Necrotizing

Abstract This case report describes the simultaneous manifestation of acute necrotizing encephalopathy in 2 consanguineous patients after infection with influenza B based on the autosomal dominant missense mutation of the RANBP2-gene. Differential diagnosis of acute encephalopathy, clinical and radiological clues, and treatment strategies are outlined.

scholarly journals Two white sponge nevus in a single family: case report

2020 ◽  
Vol 27 (1) ◽  
pp. 5
Author(s):  
Chloé Pasquier ◽  
Sophie Tisné-Versailles ◽  
Mathilde Fénélon ◽  
Sylvain Catros ◽  
Jean-Christophe Fricain
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Histological Examination ◽  
Oral Mucosa ◽  
Oral Surgery ◽  
Young Patients ◽  
Single Family ◽  
Adjacent Mucosa ◽  
Family Case ◽  
White Sponge Nevus

Introduction: White Sponge Nevus (WSN) is a leukokeratosis characterized by white lesions of the oral mucosa. These lesions are bilateral, thickened and raised compared to the adjacent mucosa. Their aspect are folded and spongy. It is a benign disorder with asymptomatics lesions which often appear during the childhood or the adolescence. The interest of this case report is that the diagnostic of WSN had been established directly, thanks to the presence of the patient's father. Observation: A twelve years old patient was examined in the unity of the oral mucosa pathology and oro-facials pain, of the oral surgery service of Bordeaux hospital (CHU de Bordeaux, France). He presented typical WSN lesions. His father was examined and presented the same lesions. Discussion: Diagnostic of WSN is mainly a clinical examination. There are a lot of differential diagnosis, and leukoplakia is the principal. In case of doubt about the diagnostic, a histological examination can be done. Nowadays, there is no consensus about the therapeutic. But the lesions are mainly asymptomatics, so any treatment has to be planed. Conclusion: An early WSN diagnosis avoids to patients a non adapted treatment and reassures young patients and their parents.

Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplication

2020 ◽  
Vol 13 (6) ◽  
pp. e235183
Author(s):  
Piero Pavone ◽  
Silvia Marino ◽  
Antonino Maniaci ◽  
Salvatore Cocuzza
Keyword(s):  
Case Report ◽  
Clinical Significance ◽  
Genetic Variant ◽  
Genetic Disorder ◽  
Molecular Characterisation ◽  
Italian Family ◽  
Three Generations ◽  
Rare Genetic Disorder ◽  
Classic Phenotype ◽  
Autosomal Dominance

Aarskog-Scott syndrome (AAS), also known as facio-genital dysplasia or faciodigitogenital syndrome, is a rare genetic disorder clinically characterised by facial, limb and genitalanomalies. Although also autosomal dominance and recessive patterns have been reported, up to now, only an X linked form associated to mutations of the FGD1 gene has been recognised as causative for this syndrome.In this case report, we describe a large Italian family in which three members across three generations show classical features of the syndrome. The youngest patient, the proband, and his mother were both molecularly studied and characterised for the not previously reported variant c.1828C>T (p. Arg610*) in the FGD1 gene but with the classic phenotype of AAS. Additionally, both the proband and his mother present a 2.5 Mb 16p13.11-p12.3 microduplication, a genetic variant still unclear for the phenotypic consequences: the co-occurrence of the two rare conditions is discussed for the possible clinical significance.

Myotonic dystrophy Rossolimo-Churchman-Steinert-Batten (clinical case)

2020 ◽  
pp. 71-72
Author(s):  
И.А. Синельникова ◽  
И.В. Сопрунова ◽  
О.П. Николаева
Keyword(s):  
Case Report ◽  
Myotonic Dystrophy ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Ctg Repeats ◽  
Molecular Genetic Method ◽  
Genetic Method ◽  
Family Case ◽  
Dmpk Gene

В статье представлено описание семейного случая миотонической дистрофии Россолимо-Штейнерта-Куршмана-Баттена. Диагноз подтвержден в результате ДНК-диагностики: выявлено увеличенное число копий CTG-повтора гена DMPK, ответственного за развитие миотонической дистрофии. A family case report of Rossolimo-Steinert-Curschmann myotonic dystrophy is presented. An increased number of copies of CTG-repeats of the DMPK gene responsible for the development of MD, i.e., the diagnosis was confirmed by molecular genetic method.

scholarly journals A large ovarian steroid cell tumor‐not otherwise specified with a unique combination of benign and malignant features as a challenging cause of oligomenorrhea and hirsutism in a 21‐year‐old Syrian female: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Sawsan Ismail ◽  
Munawar Hraib ◽  
Rana Issa ◽  
Thanaa Alassi ◽  
Zuheir Alshehabi
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Virgin Female ◽  
Cell Tumor ◽  
Diagnostic Methods ◽  
Unique Combination ◽  
Ovarian Steroid ◽  
Not Otherwise Specified ◽  
Steroid Cell Tumor ◽  
Rare Category

Abstract Background Ovarian steroid cell tumors represent a rare category of sex cord-stromal tumors that constitute less than 0.1% of all ovarian tumors. These neoplasms are classified into three main subtypes according to the cell of origin: Leidyg cell tumors, stromal luteomas, and steroid cell tumors not otherwise specified (SCTs-NOS). The latter subtype is defined as a neoplasm of an uncertain lineage that mostly affects middle-aged women, whereas it’s rare in younger ages. Case presentation We report a case of a 21-year-old virgin female who presented to our hospital with complaints of mild abdominal pain, hirsutism, and oligomenorrhea for more than a year. Before her current admission, the patient had attended an external gynecologic clinic where she had been prescribed oral contraceptives to regulate her periods. Nevertheless, on presentation to our institution, physical examination revealed abdominal tenderness with a palpable pelvic mass and mild hirsutism in the thigh. Ultrasonography demonstrated a large left ovarian mass measuring 154 × 104 mm, and compressing the uterus. Therefore, a unilateral salpingo-oophorectomy was performed, and interestingly, pathologic examination of the large aforementioned mass alongside with immunohistochemical correlation revealed the diagnosis of a large ovarian steroid cell tumor-not otherwise specified with a unique combination of benign and malignant features. Conclusions Although ovarian steroid cell tumors represent a rare category, they must be considered in the differential diagnosis for mild virilization symptoms in young females due to the importance of early diagnosis and management. In this manuscript, we aimed to present the first case report from Syria that highlights the crucial role of detailed morphological examination for challenging cases despite the difficulties in differential diagnosis, and the absence of ancillary techniques. Furthermore, we managed to discuss a brief review of diagnostic methods, histological characteristics, and treatment recommendations.

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