scholarly journals Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature

2017 ◽  
Vol 2017 ◽  
pp. 1-8 ◽  
Author(s):  
Nasifa Nur ◽  
Cameron Lang ◽  
Juanita K. Hodax ◽  
Jose Bernardo Quintos
Keyword(s):  
Differential Diagnosis ◽  
Clinical Presentation ◽  
Genetic Disorder ◽  
Type I ◽  
Review Of The Literature ◽  
Severe Dehydration ◽  
Salt Wasting ◽  
Sodium Supplementation ◽  
Pseudohypoaldosteronism Type

Systemic pseudohypoaldosteronism (PHA) type I is a rare genetic disorder resulting from mutations in the subunits of the epithelial sodium channel that manifests as severe salt wasting, hyperkalemia, and metabolic acidosis in infancy. In this article we report a patient with systemic PHA type I presenting with severe dehydration due to salt wasting at 6 days of life. She was found to have a known mutation in the SCNN1A gene and subsequently required treatment with sodium supplementation. We also review the clinical presentation, differential diagnosis, and treatment of systemic PHA type I and summarize data from 27 cases with follow-up data.

Hydrocephalus in Spinal Muscular Atrophy: A Case Report and Review of the Literature

2020 ◽  
Author(s):  
Jeetendra P. Sah ◽  
Aaron W. Abrams ◽  
Geetha Chari ◽  
Craig Linden ◽  
Yaacov Anziska
Keyword(s):  
Spinal Muscular Atrophy ◽  
Clinical Characteristics ◽  
Clinical Presentation ◽  
Muscular Atrophy ◽  
Communicating Hydrocephalus ◽  
Type I ◽  
Review Of The Literature ◽  
Radiographic Findings ◽  
Comprehensive Review ◽  
The Relationship

AbstractIn this article, we reported a case of spinal muscular atrophy (SMA) type I noted to have tetraventricular hydrocephalus with Blake's pouch cyst at 8 months of age following intrathecal nusinersen therapy. The association of hydrocephalus with SMA is rarely reported in the literature. Development of hydrocephalus after intrathecal nusinersen therapy is also reported in some cases, but a cause–effect relationship is not yet established. The aim of this study was to describe the clinical characteristics of a patient with SMA type I and hydrocephalus, to review similar cases reported in the literature, and to explore the relationship between nusinersen therapy and development of hydrocephalus. The clinical presentation and radiographic findings of the patient are described and a comprehensive review of the literature was conducted. The adverse effect of communicating hydrocephalus related to nusinersen therapy is being reported and the authors suggest carefully monitoring for features of hydrocephalus developing during the course of nusinersen therapy.

scholarly journals Heterogeneity of the Clinical Presentation of the MEN1 LRG_509 c.781C>T (p.Leu261Phe) Variant Within a Three-Generation Family

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 512
Author(s):  
Aleksandra Gilis-Januszewska ◽  
Anna Bogusławska ◽  
Kornelia Hasse-Lazar ◽  
Beata Jurecka-Lubieniecka ◽  
Barbara Jarząb ◽  
...  
Keyword(s):  
Neuroendocrine Tumor ◽  
Clinical Presentation ◽  
Age Of Onset ◽  
Malignant Tumors ◽  
Genetic Disorder ◽  
Family Members ◽  
Pancreatic Neuroendocrine Tumor ◽  
Index Patient ◽  
Generation Family

Multiple neuroendocrine neoplasia type 1 (MEN1) is a rare genetic disorder with an autosomal dominant inheritance, predisposing carriers to benign and malignant tumors. The phenotype of MEN1 syndrome varies between patients in terms of tumor localization, age of onset, and clinical aggressiveness, even between affected members within the same family. We describe a heterogenic phenotype of the MEN1 variant c.781C>T (LRG_509t1), which was previously reported only once in a family with isolated hyperparathyroidism. A heterozygous missense variant in exon 4 of the gene was identified in the sequence of the MEN1 gene, i.e., c.781C>T, leading to the amino acid change p.Leu261Phe in a three-generation family. In the screened family, 5/6 affected members had already developed hyperparathyroidism. In the index patient and two other family members, an aggressive course of pancreatic neuroendocrine tumor (insulinoma and non-functioning neuroendocrine tumors) with dissemination was diagnosed. In the index patient, late diagnosis and slow progression of the disseminated neuroendocrine tumor have been observed (24 years of follow-up). The very rare variant of MEN1, LRG_509t1 c.781C>T /p.Leu261Phe (LRG_509p1), diagnosed within a three-generation family has a heterogenic clinical presentation. Further follow-up of the family members should be carried out to confirm the spectrum and exact time of clinical presentation.

scholarly journals Gastroblastoma in Adulthood—A Rarity among Rare Cancers—A Case Report and Review of the Literature

2019 ◽  
Vol 2019 ◽  
pp. 1-6
Author(s):  
Giovanni Centonze ◽  
Alessandro Mangogna ◽  
Tiziana Salviato ◽  
Beatrice Belmonte ◽  
Laura Cattaneo ◽  
...  
Keyword(s):  
Young Adults ◽  
Differential Diagnosis ◽  
Case Report ◽  
Clinical Approach ◽  
Review Of The Literature ◽  
Adult Age ◽  
Rare Cancers ◽  
Mesenchymal Neoplasm ◽  
Worse Prognosis

Gastroblastoma (GB) is a rare gastric epithelial-mesenchymal neoplasm, first described by Miettinen et al. So far, all reported cases described the tumor in children or young adults, and similarities with other childhood blastomas have been postulated. We report a case of GB in a 43-year-old patient with long follow up and no recurrence up to 100 months after surgery. So far, this is the second case of GB occurring in the adult age >40-year-old. Hence, GB should be considered in the differential diagnosis of microscopically comparable conditions in adults carrying a worse prognosis and different clinical approach.

Bladder hemangioma. Case report and review of the literature

1994 ◽  
Vol 61 (2) ◽  
pp. 151-153
Author(s):  
M. Marcellini ◽  
R. Cantiani ◽  
G. Mainiero ◽  
L Neri
Keyword(s):  
Case Report ◽  
Clinical Presentation ◽  
Age Of Onset ◽  
Partial Cystectomy ◽  
Definitive Treatment ◽  
Review Of The Literature ◽  
Bladder Hemangioma ◽  
One Year

The Authors report a case of vesical hemangioma; it was typical for site and clinical presentation whereas the age of onset and gross appearance were atypical. A TUR biopsy was performed without complications, but did not confirm diagnosis. A partial cystectomy was performed. A one-year follow-up, negative for recurrence, confirmed this procedure as the definitive treatment of choice.

scholarly journals Abdominal Tumor in a 14-Year-Old Adolescent: Imperforate Hymen, Resulting in Hematocolpos—A Case Report and Review of the Literature

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
George Marios Makris ◽  
Doris Macchiella ◽  
Dennis Vaidakis ◽  
Charalampos Chrelias ◽  
Marco Johannes Battista ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
3D Ultrasound ◽  
Medical Advice ◽  
Female Adolescents ◽  
Review Of The Literature ◽  
Abdominal Tumor ◽  
Imperforate Hymen ◽  
Abdominal Masses ◽  
2D Ultrasound

Background. Abdominal masses in female adolescents are uncommon. A rare cause of this condition is hematocolpos due to imperforate hymen.Case. We present a case of an unusually massive asymptomatic abdominal bulk in a 14-year-old female patient, who sought for medical advice after unusual abdominal pain lasting for few weeks. The patient was otherwise asymptomatic, apart from an unusual dramatic expansion of her abdominal wall during the last month. We describe the surgical management and the follow-up of the patient.Summary and Conclusion. Clinicians should keep in mind that an imperforate hymen can cause abdominal growth due to hematocolpos and include it in the differential diagnosis of such a clinical entity in female adolescents. 2D ultrasound is usually efficient for the confirmation of the diagnosis of hematocolpos, but 3D ultrasound is more accurate. Wide excision should be undertaken, as an initial approach, to avoid recurrence.

Fracture of the Second Metatarsal Base

2003 ◽  
Vol 93 (1) ◽  
pp. 6-10 ◽  
Author(s):  
Gregory Morris ◽  
Kelly Nix ◽  
Flair D. Goldman
Keyword(s):  
Differential Diagnosis ◽  
Clinical Presentation ◽  
Recovery Period ◽  
Treatment Modalities ◽  
Transverse Fracture ◽  
Imaging Studies ◽  
Improve Treatment ◽  
Second Metatarsal ◽  
The Mean

Fracture of the second metatarsal is a cause of chronic midfoot pain that has not been thoroughly examined in the literature. A retrospective review of medical charts and imaging studies was undertaken to investigate this phenomenon. The clinical presentation, differential diagnosis, results of imaging studies, and treatment modalities are described for eight patients with midfoot pain who were treated for a mean of 3.7 months (range, 0 to 12 months) before imaging studies showed a nondisplaced transverse fracture of the second metatarsal base. Initial radiographs indicated fracture in only one patient. Two patients later had surgical bone grafting, two patients had asymptomatic nonunion, and three patients eventually healed. At the last follow-up examination, one patient was continuing treatment with immobilization and electrical bone stimulation. For the seven patients in whom symptoms resolved, the mean recovery period was 14 months (range, 5 to 23 months). Further research is needed to improve treatment and outcomes for this condition. (J Am Podiatr Med Assoc 93(1): 6-10, 2003)

Perifolliculitis Capitis Abscedens et Suffodiens in an 18-Year-Old Aboriginal Canadian Patient: Case Report and Review of the Literature

2007 ◽  
Vol 11 (1) ◽  
pp. 35-39 ◽  
Author(s):  
Nishi Varshney ◽  
Anwar Al Hammadi ◽  
Hakeem Sam ◽  
A. Kevin Watters
Keyword(s):  
Differential Diagnosis ◽  
African American ◽  
Case Report ◽  
Clinical Presentation ◽  
Treatment Options ◽  
Careful Analysis ◽  
Review Of The Literature ◽  
Patient Case ◽  
Diagnosis And Management ◽  
Canadian Patient

Background: Perifolliculitis capitis abscedens et suffodiens (PCAS) is a suppurative process that involves the scalp, eventually resulting in extensive scarring and irreversible alopecia. This condition often presents in males of African American origin. Objective: This article describes the clinical presentation, diagnosis, and treatment of an Aboriginal Canadian male suffering from PCAS. A literature review on the etiology, pathology, differential diagnosis, and management is also discussed. Conclusion: Careful analysis of the pathology and clinical presentation can aid in the timely diagnosis and management of this challenging condition. The clinician dealing with patients suffering from PCAS has several treatment options available to help successfully manage patients with straightforward or recalcitrant disease.

scholarly journals Pancreatic Lipoma: A Pancreatic Incidentaloma Diagnosis with Computed Tomography

2021 ◽  
Author(s):  
Amina Beddi ◽  
Aicha Merzem ◽  
Meryem Harmak ◽  
Hasna Belgadir ◽  
Omar Amriss ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Differential Diagnosis ◽  
Prostate Adenocarcinoma ◽  
Imaging Features ◽  
Review Of The Literature ◽  
Characteristic Features ◽  
Rare Benign Tumour ◽  
Pancreatic Incidentaloma ◽  
Ct And Mri

Lipoma of the pancreas is a rare benign tumour which is usually discovered incidentally on imaging. We present a case of an incidentally discovered pancreatic lipoma in a 79-year-old man with non-metastatic prostate adenocarcinoma who was referred to radiology for follow-up imaging. Fat-containing tumours originating from the pancreas are very rare. Most lipomas show characteristic features on imaging that allow their differentiation. We present the imaging features of a pancreatic lipoma on ultrasound, CT and MRI, discuss the differential diagnosis, and provide a brief review of the literature.

scholarly journals Progression of Hepatic Adenoma to Carcinoma in the Setting of Hepatoportal Sclerosis in HIV Patient: Case Report and Review of the Literature

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
M. I. Montenovo ◽  
F. G. Jalikis ◽  
M. Yeh ◽  
J. D. Reyes
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Liver Disease ◽  
Clinical Presentation ◽  
Final Diagnosis ◽  
Hepatic Adenoma ◽  
Review Of The Literature ◽  
Patient Case ◽  
Hepatoportal Sclerosis ◽  
First Case

We report a case of hepatic adenoma progression to carcinoma in the setting of hepatoportal sclerosis in an HIV+ patient and provide a review of the scarce literature regarding hepatoportal sclerosis in HIV patients. We describe the clinical presentation, diagnostic workup, and management. This is the first case report in the literature of progression of hepatic adenoma to carcinoma in hepatoportal sclerosis in an HIV patient. This case also highlights the broad differential diagnosis that should always be included in the study of any liver disease in this patient population, including the performance of invasive and aggressive tests to arrive at the final diagnosis.

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