scholarly journals Multiple endocrine neoplasia type 1 with a frameshift mutation in its gene accompanied by a giant cervical lipoma and multiple fatty deposits in the pancreas: case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yoshiro Fushimi ◽  
Shinji Kamei ◽  
Fuminori Tatsumi ◽  
Junpei Sanada ◽  
Masashi Shimoda ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Stop Codon ◽  
Visual Disturbance ◽  
Endocrine Tumor ◽  
Total Parathyroidectomy ◽  
Pituitary Fossa ◽  
Case Presentation ◽  
Genetic Search ◽  
Its Gene

Abstract Background Multiple endocrine neoplasia type 1 (MEN1) is a syndrome characterized by pituitary neoplasia, primary hyperparathyroidism and pancreatic endocrine tumor. Here we show a case of MEN1 with a germline frameshift mutation in its gene accompanied by a giant cervical lipoma and multiple fatty deposits in the pancreas. Case presentation A 28-year-old man noticed the decreased visual acuity of both eyes and visited our institution. Since he was diagnosed as visual disturbance and brain computer tomography (CT) showed a mass in the pituitary fossa, he was hospitalized in our institution. Endoscopic trans-sphenoidal hypophysectomy and total parathyroidectomy with auto-transplantation were performed, and a giant cervical lipoma was resected. Furthermore, in genetic search, we found a germline frameshift mutation in MEN1 gene leading to the appearance of a new stop codon. Conclusions We should bear in m ind that giant skin lipoma and multiple abnormal fatty deposits in the pancreas could be complicated with MEN1.

scholarly journals Central precocious puberty in a girl with LEGIUS syndrome: an accidental association?

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Valentina Orlandi ◽  
Paolo Cavarzere ◽  
Laura Palma ◽  
Rossella Gaudino ◽  
Franco Antoniazzi
Keyword(s):  
Genetic Analysis ◽  
Precocious Puberty ◽  
Central Precocious Puberty ◽  
Neurofibromatosis Type ◽  
Case Presentation ◽  
New Variant ◽  
Legius Syndrome ◽  
Timing Of Puberty ◽  
First Time

Abstract Background Central precocious puberty is a condition characterized by precocious activation of the hypothalamic-pituitary-gonadal axis. It may be idiopathic or secondary to organic causes, including syndromes such as Neurofibromatosis type 1 (NF1). Case presentation We presented a girl of 6 years and 10 months with almost 11 café-au-lait skin macules, without other clinical or radiological signs typical of NF1, and with a central precocious puberty. Genetic analysis evidenced the new variant NM-152594.2:c.304delAp. (Thr102Argfs*19) in SPRED1 gene, which allowed to diagnose Legius syndrome. Conclusions We report for the first time a case of central precocious puberty in a girl with Legius syndrome. The presence of central precocious puberty in a child with characteristic café-au-lait macules should suggest pediatricians to perform genetic analysis in order to reach a definitive diagnosis. Further studies on timing of puberty in patients with RASopathies are needed to better elucidate if this clinical association is casual or secondary to their clinical condition.

scholarly journals Sudden Cause of Cardiac Death—Be Aware of Me: A Case Report and Short Review on Brugada Syndrome

2010 ◽  
Vol 2010 ◽  
pp. 1-3 ◽  
Author(s):  
Jagadeesh K. Kalavakunta ◽  
Vishwaroop Bantu ◽  
Hemasri Tokala ◽  
Mihas Kodenchery
Keyword(s):  
Brugada Syndrome ◽  
Past History ◽  
Short Review ◽  
Case Presentation ◽  
St Segment Elevation ◽  
First Case ◽  
St Segment ◽  
The Right ◽  
Malignant Arrhythmias

Introduction. Brugada syndrome accounts for about 4% of sudden cardiac deaths (SCD). It is characterized by an ST-segment elevation in the right precordial electrocardiogram (EKG) leads.Case Presentation. We describe a 39-year-old healthy Caucasian man who was admitted to the intensive care unit after being cardioverted from ventricular fibrillation (VF) arrest. His past history was significant for an episode of syncope one month prior to this presentation for which he was admitted to an outlying hospital. EKG during that admission showed ST elevations in V1 and V2 leads, a pattern similar to Type 1 Brugada. A diagnosis of Brugada syndrome was missed and the patient had a cardiac arrest a month later. We discuss a short review of Brugada syndrome and emphasize the need to look for it in patients presenting with SCD and malignant arrhythmias.Conclusion. Physicians should always consider Brugada syndrome in the differential diagnosis of ST-segment elevation in anterior precordial leads of EKG and associated VT/VF. Although more than 17 years have passed since the first case was reported, increased awareness of this syndrome is needed to identify patients with EKG changes and treat them accordingly to prevent incidence of (SCD) and its deleterious complications.

scholarly journals Incidental Findings of Brugada Syndrome Type-1 and Epsilon-Like Pattern in Otherwise Healthy Man: a Case Report

2022 ◽  
Author(s):  
Brian Mendel ◽  
Valerie Dirjayanto ◽  
Radityo Prakoso ◽  
Sisca Siagian
Keyword(s):  
Brugada Syndrome ◽  
Unknown Origin ◽  
Initial Assessment ◽  
Structural Abnormality ◽  
Bundle Branch Block ◽  
Case Presentation ◽  
Electrophysiology Study ◽  
Esc Guidelines

Abstract Background: Brugada Syndrome (BrS) and arrhythmogenic right ventricle dysplasia (ARVD) are rare cardiomyopathies predisposing to sudden cardiac death (SCD). Comprehending the electrocardiographic features of these cardiomyopathies are crucial especially in emergency settings.Case presentation: A 25-year old medical student presented with no complaints, but had episodes of syncope, chest pain, and palpitations of unknown origin 10 years ago. The initial assessment showed stable hemodynamics. During examination, the ECG demonstrated incomplete right bundle branch block, Brugada-type 1 pattern, with signs of Epsilon wave. The following year, assessment of the ECG was repeated and findings were found suggestive of Brugada syndrome, although his echocardiography showed no structural abnormality. According to ESC guidelines, asymptomatic Brugada patients should undergo electrophysiology study.Conclusion: Careful follow-up with electrophysiology study is recommended for this patient in order to identify the likelihood of true Brugada and suitability for radiofrequency ablation or implantation of implantable cardioverter defibrillator (ICD).

Clinical Features of Infantile GM1 Gangliosidosis: Report of an Iranian Patient

2020 ◽  
Author(s):  
Mahtab Ordooei ◽  
Razieh Fallah ◽  
Fatemeh Abdi ◽  
Fahimeh Soheilipour
Keyword(s):  
Lysosomal Storage ◽  
Gm1 Gangliosidosis ◽  
Case Presentation ◽  
Iranian Patient ◽  
Cherry Red Spot ◽  
Type 3 ◽  
Initial Check ◽  
Infantile Type

Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease due to a lack of β-galactosidase activity, exactly because of mutations in the GLB1 gene. GM1 gangliosidosis is a rare disease that could occur either during infancy (infantile type 1), as a juvenile (type 2), or in adulthood (type 3) in both nervous and skeletal systems. Type 1 is characterized by premature psychomotor deterioration, visceromegaly, macular cherry-red spot, skeletal deformities, and death in the first 2 years of life. Case Presentation: We reported an Iranian infant who, on initial check-up, had coarse face, visceromegaly, dystonia, and hepatosplenomegaly that increased at 15 months of age. At the initial check-up, a genetic test was performed and GM1 gangliosidosis type 1 was diagnosed. Conclusion: infant form is characterized by early-onset before the age of 6 months and rapidly progressive psychomotor deterioration, facial abnormalities, and visceromegaly.

Can we effectively predict the occurrence of cerebral edema in children with ketoacidosis in the course of type 1 diabetes? – case report and literature review

2020 ◽  
Vol 33 (2) ◽  
pp. 319-322
Author(s):  
Krzysztof Jeziorny ◽  
Arleta Waszczykowska ◽  
Dobromiła Barańska ◽  
Agnieszka Szadkowska ◽  
Wojciech Młynarski ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Cerebral Edema ◽  
Diagnostic Methods ◽  
Newly Diagnosed ◽  
Cns Disorders ◽  
Case Presentation ◽  
Non Invasive ◽  
Appropriate Treatment ◽  
Life Threatening

AbstractBackgroundCerebral edema (CE) is one of the most serious complications of diabetic ketoacidosis (DKA) and can result in central nervous system (CNS) disorders and even lead to death of the patient.Case presentationWe present the case of a 11-year-old boy with severe DKA in the course of newly diagnosed type 1 diabetes (T1D). The delay in the diagnosis of DKA and some therapeutic problems contributed to the development of CE and direct life-threatening conditions. Early diagnosis of CE development in the course of DKA using non-invasive methods such as pachymetry or transorbital ultrasound seems to be a very important prognostic factor.ConclusionsThis case highlights the importance of appropriate treatment according to the newest recommendations and presents the usefulness of new diagnostic methods to assess the risk of CE in children with newly diagnosed T1D.

scholarly journals A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Cristina Grippaudo ◽  
Concetta Cafiero ◽  
Isabella D’Apolito ◽  
Agnese Re ◽  
Maurizio Genuardi ◽  
...  
Keyword(s):  
Stop Codon ◽  
Clinical Manifestations ◽  
Premature Stop Codon ◽  
Diagnostic Value ◽  
Open Bite ◽  
Incomplete Penetrance ◽  
Functional Protein ◽  
Case Presentation ◽  
Primary Failure Of Eruption ◽  
Buccal Swabs

Abstract Background Aim of this work was to describe a rare inheritance pattern of Primary Failure of Eruption (PFE) in a small family with incomplete penetrance of PFE and a novel nonsense PTH1R variant. Case presentation The proband, a 26 year-old man with a significant bilateral open-bite, was diagnosed with PFE using clinical and radiographic characteristics. DNA was extracted from the proband and his immediate family using buccal swabs and the entire PTH1R coding sequence was analyzed, revealing a novel heterozygous nonsense variant in exon 7 of PTH1R (c.505G > T). This variant introduces a premature stop codon in position 169, predicted to result in the production of a truncated and non-functional protein. This variant has never been reported in association with PFE and is not present in the Genome Aggregation Database (gnomAD). Interestingly, the c.505G > T variant has also been identified in the unaffected mother of our proband, suggesting incomplete penetrance of PFE. Conclusions In this study, we report a new PTH1R variant that segregates in an autosomal dominant pattern and causes PFE with incomplete penetrance. This underlines the diagnostic value of a thorough clinical and genetic analysis of all family members in order to estimate accurate recurrence risks, identify subtle clinical manifestations and provide proper management of PFE patients.

scholarly journals Successful olaparib desensitization using a novel one-day protocol

2020 ◽  
Vol 16 (1) ◽  
Author(s):  
Rongbo Zhu ◽  
Stephen Welch ◽  
Hannah Roberts
Keyword(s):  
Adverse Reactions ◽  
Chemotherapeutic Agents ◽  
Hypersensitivity Reactions ◽  
Immediate Hypersensitivity ◽  
Case Presentation ◽  
Tablet Form ◽  
Desensitization Protocol ◽  
Ige Mediated ◽  
Loss Of Tolerance

Abstract Background Olaparib is a revolutionary treatment for patients with ovarian and breast cancer. Currently, there is no established 1-day drug desensitization protocol for patients with olaparib type-1 hypersensitivity reactions despite well documented IgE-mediated adverse reactions occurring with olaparib. Case presentation We report a 58-year-old female with immediate, reproducible IgE-mediated adverse reactions to olaparib tablets with implementation of a 1-day novel desensitization protocol to olaparib. Following desensitization, the patient was successfully transitioned from olaparib capsules to tablets with no loss of tolerance. Conclusions To our knowledge, this is the first reported case of successful olaparib desensitization using a novel 1-day desensitization protocol, and will contribute to drug allergy knowledge, in an area where robust data is lacking. This case demonstrates the important role for drug desensitization in patients with immediate hypersensitivity reactions to chemotherapeutic agents. Furthermore, as olaparib capsules are being phased out in favour of olaparib tablets, we provide a clear case that transitioning from capsule to tablet form did not cause a loss of tolerance.

scholarly journals A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia

2019 ◽  
Vol 32 (8) ◽  
pp. 752-758
Author(s):  
Peng Fan ◽  
Yu-Mo Zhao ◽  
Di Zhang ◽  
Ying Liao ◽  
Kun-Qi Yang ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Frameshift Mutation ◽  
Stop Codon ◽  
Single Gene ◽  
Family Members ◽  
Premature Stop Codon ◽  
Chinese Family ◽  
Autosomal Dominant Disorder ◽  
Liddle Syndrome ◽  
Genetic Sequencing

Abstract BACKGROUND Liddle syndrome (LS) is an autosomal dominant disorder caused by single-gene mutations of the epithelial sodium channel (ENaC). It is characterized by early-onset hypertension, spontaneous hypokalemia and low plasma renin and aldosterone concentrations. In this study, we reported an LS pedigree with normokalemia resulting from a novel SCNN1G frameshift mutation. METHODS Peripheral blood samples were collected from the proband and eight family members for DNA extraction. Next-generation sequencing and Sanger sequencing were performed to identify the SCNN1G mutation. Clinical examinations were used to comprehensively evaluate the phenotypes of two patients. RESULTS Genetic analysis identified a novel SCNN1G frameshift mutation, p.Arg586Valfs*598, in the proband with LS. This heterozygous frameshift mutation generated a premature stop codon and deleted the vital PY motif of ENaC. The same mutation was present in his elder brother with LS, and his mother without any LS symptoms. Biochemical examination showed normokalemia in the three mutation carriers. The mutation identified was not found in any other family members, 100 hypertensives, or 100 healthy controls. CONCLUSIONS Our study identified a novel SCNN1G frameshift mutation in a Chinese family with LS, expanding the genetic spectrum of SCNN1G. Genetic testing helped us identify LS with a pathogenic mutation when the genotypes and phenotype were not completely consistent because of the hypokalemia. This case emphasizes that once a proband is diagnosed with LS by genetic testing, family genetic sequencing is necessary for early diagnosis and intervention for other family members, to protect against severe cardiovascular complications.

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