scholarly journals Rare PHEX variant with insidious presentation leads to a delayed diagnosis of X-linked hypophosphatemia

2021 ◽  
Vol 14 (5) ◽  
pp. e240336
Author(s):  
Cathrine Constantacos ◽  
Janel Darcy Hunter ◽  
Elizabeth Tharpe Walsh ◽  
Andrew Michael South
Keyword(s):  
Linear Growth ◽  
Clinical Presentation ◽  
Delayed Diagnosis ◽  
Hypophosphatemic Rickets ◽  
Gene Variant ◽  
Leg Length ◽  
Femoral Bowing ◽  
Mild Clinical Presentation ◽  
Previous Medical History ◽  
Phosphorus Levels

A 7-year-old girl without a significant previous medical history was diagnosed with X-linked hypophosphatemic rickets (XLHR) due to a rare, most likely pathogenic, PHEX gene variant after a 4-year delayed diagnosis due to mild clinical presentation. At 2 years of age, her intoeing and femoral bowing were attributed to physiologic bowing and borderline vitamin D sufficiency, despite phosphorus not being measured. Hypophosphatemia was eventually detected after incomplete improvement of bowing and leg length discrepancy with suboptimal linear growth. This rare PHEX variant (c.1949T>C, p.Leu650Pro) further supported the clinical diagnosis of XLHR. Treatment with burosumab (an anti-FGF23 monoclonal antibody) normalised phosphorus and alkaline phosphatase levels and improved her bowing. The diverse phenotypic presentation of this variant can result in delayed diagnosis and highlights the importance of prompt assessment of phosphorus levels in patients with skeletal deformities to ensure timely recognition and treatment.

scholarly journals Two Similar Cases of a Misdiagnosed Anterior Communicating Aneurysm Rupture

2021 ◽  
pp. 218-224
Author(s):  
Jaromir Hanuska ◽  
Jan Klener
Keyword(s):  
Clinical Presentation ◽  
Blood Clot ◽  
Delayed Diagnosis ◽  
Artery Aneurysm ◽  
Aneurysm Rupture ◽  
Anterior Communicating Artery ◽  
Mri Scans ◽  
Magnetic Resonance Imaging Mri ◽  
Anterior Communicating Aneurysm ◽  
Mild Clinical Presentation

The misdiagnosis of a ruptured aneurysm directly endangers patient’s life and health due to the high risk of rebleeding and its sequelae. In this paper, we present two uncommon cases of anterior communicating artery aneurysm rupture with a relatively small intracerebral bleeding, seemingly without a diffuse subarachnoid hemorrhage (SAH), and a relatively mild clinical presentation. In these cases, the initial diagnosis failed, leading to missed aneurysmal ruptures. The atypical or mild clinical presentation, and the absence of SAH on computed tomography (CT) and/or magnetic resonance imaging (MRI) scan or absent blood in the cerebrospinal fluid (CSF) are all factors which could lead to a false or delayed diagnosis. Meticulous evaluation of patient’s symptoms, CT, MRI scans, and CSF findings are mandatory. The possibility of a small blood clot without a diffuse SAH must be considered.

scholarly journals Isolated Laryngeal Leishmaniasis in Immunocompetent Patients: An Underdiagnosed Disease

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Salvatore Cocuzza ◽  
Alessio Strazzulla ◽  
Marilia Rita Pinzone ◽  
Stefano Cosentino ◽  
Agostino Serra ◽  
...  
Keyword(s):  
Therapeutic Approach ◽  
Clinical Presentation ◽  
Delayed Diagnosis ◽  
The Body ◽  
Diagnostic Features ◽  
Long Period ◽  
Mucosal Leishmaniasis ◽  
Delayed Recognition ◽  
Previous Medical History ◽  
Immunocompetent Patients

We describe a case of isolated primary laryngeal leishmaniasis in an immunocompetent Italian patient with a previous medical history negative for visceral or cutaneous leishmaniasis, presenting with hoarseness. We also summarize the epidemiological, clinical, and diagnostic features and the therapeutic management of other cases of laryngeal leishmaniasis in immunocompetent subjects, described in the literature. Considering the insidious and nonspecific clinical presentation, the increasing number of different forms of mild or underestimated immunosuppressive conditions, and the number of people travelling in endemic zones, along with the ability ofLeishmaniaamastigotes to survive for a long period in the body, we believe it is important for pathologists and clinicians to be aware of this unusual form of leishmaniasis in order to avoid delayed recognition and treatment. The rarity of the presentation and the lack of guidelines on mucosal leishmaniasis may contribute to the potential undiagnosed cases or delayed diagnosis, the possible relapses, as well as the correct pharmacological and/or surgical therapeutic approach.

scholarly journals Delayed diagnosis of Peutz–Jeghers syndrome due to pathological information loss or mistake in family/personal history

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Yu-Liang Jiang ◽  
Xiao-Dong Xu ◽  
Bai-Rong Li ◽  
En-Da Yu ◽  
Zi-Ye Zhao ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Novel Mutation ◽  
Delayed Diagnosis ◽  
Personal History ◽  
Pathological Examination ◽  
The Novel ◽  
Novel Mutations ◽  
The Family ◽  
Genetic Level ◽  
Peutz Jeghers Syndrome

Abstract Objective To report Peutz–Jeghers syndrome (PJS) cases with non-definitive clues in the family or personal history and finally diagnosed through pathological examination and STK11 gene mutation test. Clinical presentation and intervention PJS was suspected in 3 families with tortuous medical courses. Two of them had relatives departed due to polyposis or colon cancer without pathological results, and the other one had been diagnosed as hyperplastic polyposis before. Diagnosis of PJS was confirmed by endoscopy and repeated pathological examinations, and the STK11 mutation test finally confirmed the diagnosis at genetic level, during which 3 novel mutation were detected (536C > A, 373_374insA, 454_455insGGAGAAGCGTTTCCCAGTGTGCC). Conclusion Early diagnosis of PJS is important and may be based on a family history with selective features among family members, and the pathological information is the key. The novel mutations also expand the STK11 variant spectrum.

Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Manjunath Havalappa Dodamani ◽  
Manjeetkaur Sehemby ◽  
Saba Samad Memon ◽  
Vijaya Sarathi ◽  
Anurag R. Lila ◽  
...  
Keyword(s):  
Systematic Review ◽  
Vitamin D ◽  
World Literature ◽  
Hot Spot ◽  
Severe Disease ◽  
Delayed Diagnosis ◽  
Hypophosphatemic Rickets ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Pathogenic Variants

Abstract Background Vitamin D dependent rickets type 1 (VDDR1) is a rare disease due to pathogenic variants in 1-α hydroxylase gene. We describe our experience with systematic review of world literature to describe phenotype and genotype. Methods Seven patients from six unrelated families with genetically proven VDDR1 from our cohort and 165 probands from systematic review were analyzed retrospectively. The clinical features, biochemistry, genetics, management, and long-term outcome were retrieved. Results In our cohort, the median age at presentation and diagnosis was 11(4–18) and 40(30–240) months. The delayed diagnoses were due to misdiagnoses as renal tubular acidosis and hypophosphatemic rickets. Four had hypocalcemic seizures in infancy whereas all had rickets by 2 years. All patients had biochemical response to calcitriol, however two patients diagnosed post-puberty had persistent deformity. Genetic analysis revealed two novel (p.Met260Arg, p.Arg453Leu) and a recurring variant (p.Phe443Profs*24). Systematic review showed that seizures as most common presentation in infancy, whereas delayed motor milestones and deformities after infancy. Diagnosis was delayed in 27 patients. Patients with unsatisfactory response despite compliance were >12 years at treatment initiation. Inappropriately normal 1,25(OH)2D may be present, however suppressed ratio of 1,25(OH)2 D/25(OH)D may provide a clue to diagnosis. Various region specific and hot-spot recurrent variants are described. Patients with truncating variants had higher daily calcitriol requirement and greatly suppressed ratio of 1,25(OH)2D/25(OH)D. Conclusion Delayed diagnosis may lead to permanent short stature and deformities. Truncating variants tend to have severe disease as compared to non-truncating variants. Diagnostic accuracy of 1,25(OH)2 D/25(OH)D ratio needs further validation.

scholarly journals Kingella kingae Osteoarticular Infections Approached through the Prism of the Pediatric Orthopedist

2021 ◽  
Vol 10 (1) ◽  
pp. 25
Author(s):  
Giacomo DeMarco ◽  
Moez Chargui ◽  
Benoit Coulin ◽  
Benoit Borner ◽  
Christina Steiger ◽  
...  
Keyword(s):  
Inflammatory Response ◽  
Septic Arthritis ◽  
Surgical Procedures ◽  
Clinical Presentation ◽  
Tendon Sheath ◽  
Skeletal System ◽  
Kingella Kingae ◽  
Osteoarticular Infections ◽  
Acute Hematogenous Osteomyelitis ◽  
Mild Clinical Presentation

Nowadays, Kingella kingae (K. kingae) is considered as the main bacterial cause of osteoarticular infections (OAI) in children aged less than 48 months. Next to classical acute hematogenous osteomyelitis and septic arthritis, invasive K. kingae infections can also give rise to atypical osteoarticular infections, such as cellulitis, pyomyositis, bursitis, or tendon sheath infections. Clinically, K. kingae OAI are usually characterized by a mild clinical presentation and by a modest biologic inflammatory response to infection. Most of the time, children with skeletal system infections due to K. kingae would not require invasive surgical procedures, except maybe for excluding pyogenic germs’ implication. In addition, K. kingae’s OAI respond well even to short antibiotics treatments, and, therefore, the management of these infections requires only short hospitalization, and most of the patients can then be treated safely as outpatients.

scholarly journals An Autochthonous Outbreak of the SARS-CoV-2 P.1 Variant of Concern in Southern Italy, April 2021

2021 ◽  
Vol 6 (3) ◽  
pp. 151
Author(s):  
Daniela Loconsole ◽  
Anna Sallustio ◽  
Francesca Centrone ◽  
Daniele Casulli ◽  
Maurizio Mario Ferrara ◽  
...  
Keyword(s):  
Neutralizing Antibodies ◽  
Clinical Presentation ◽  
Southern Italy ◽  
Receptor Binding Domain ◽  
Gene Target ◽  
Health Measures ◽  
Molecular Tests ◽  
Laboratory Investigations ◽  
The Impact ◽  
Mild Clinical Presentation

The SARS-CoV-2 P.1 variant of concern (VOC) was first identified in Brazil and is now spreading in European countries. It is characterized by the E484K mutation in the receptor-binding domain, which could contribute to the evasion from neutralizing antibodies. In Italy, this variant was first identified in January 2021. Here, we report an autochthonous outbreak of SARS-CoV-2 P.1 variant infections in southern Italy in subjects who had not travelled to endemic areas or outside the Apulia region. The outbreak involved seven subjects, three of whom had received a COVID-19 vaccine (one had received two doses and two had received one dose). Four patients had a mild clinical presentation. Laboratory investigations of nasopharyngeal swabs revealed that all strains were S-gene target failure-negative and molecular tests revealed they were the P.1 variant. Whole-genome sequencing confirmed that five subjects were infected with closely related strains classified as the P.1 lineage. The circulation of VOCs highlights the importance of strictly monitoring the spread of SARS-CoV-2 variants through genomic surveillance and of investigating local outbreaks. Furthermore, public health measures including social distancing, screening, and quarantine for travelers are key tools to slow down the viral transmission and to contain and mitigate the impact of VOC diffusion, and rapid scaling-up of vaccination is crucial to avoid a possible new epidemic wave.

scholarly journals Mild Clinical Presentation of Acute Fatty Liver in the Second Trimester of Pregnancy

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Alaeddine Yassin ◽  
Walid Denguezli ◽  
Anissa Fessi ◽  
Leila Njim ◽  
Raja Falah ◽  
...  
Keyword(s):  
Fatty Liver ◽  
Clinical Presentation ◽  
Second Trimester ◽  
Acute Fatty Liver ◽  
Mild Clinical Presentation

We report a case of 29 years old woman who was diagnosed with acute fatty liver of pregnancy at 23 weeks of gestation with unusual evolution (pregnancy prolonged until 36 weeks of gestation) to draw attention on the possibility of occurrence of this pathology in the second trimester of pregnancy even with a milder clinical presentation and course.

ACROMEGALY UNVEILED DURING A NASAL RECONSTRUCTION SURGERY: A CASE REPORT

2021 ◽  
pp. 66-68
Author(s):  
Kiran Shah ◽  
Ishant Bhanarkar ◽  
Vasavdatta Sharma ◽  
Durvesh Bhangale ◽  
Vinod Pawara ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Delayed Diagnosis ◽  
Somatic Growth ◽  
Care Physician ◽  
Nasal Reconstruction ◽  
Thyroid Function Tests ◽  
Resonance Imaging ◽  
Magnetic Resonance Imaging Mri ◽  
New Diagnosis ◽  
Gh Excess

Acromegaly is a condition of excessive somatic growth and distorted proportion due to hypersecretion of growth hormone(GH) and insulin-like growth factor 1 (IGF-1). Insidious clinical manifestation of GH excess as a result of GH-secreting pituitary adenoma renders acromegaly a disease with typically delayed diagnosis. We report a 29-year old male planned to undergo reconstruction of the nose. The patient was referred for medical tness. Given the clinical features consistent with acromegaly the patient was evaluated further for diagnosis. Laboratory investigation showed raised IGF-1and non-suppressed GH post 75gms glucose, amid normal cortisol, corticotropin(ACTH), prolactin, testosterone, and thyroid function tests. He did not have dysglycemia. Magnetic resonance imaging (MRI) of the pituitary revealed a pituitary macroadenoma consistent with acromegaly. This case highlights the notable absence of recognizing the clinical presentation of acromegaly in this patient by his medical care physician and surgeons, and therefore the importance of thorough history taking, attention, and observation in making a new diagnosis that has the potential to alter a patient's health care and alleviate impending complications, morbidity and/or mortality

scholarly journals Management of Abdominal Tuberculosis in a Community-Based Hospital From a High-Income Developing Country

2021 ◽  
Author(s):  
Hussam Mousa ◽  
Saleh Abdel-Kader ◽  
Fikri Abu-Zidan
Keyword(s):  
United Arab Emirates ◽  
Clinical Presentation ◽  
Delayed Diagnosis ◽  
Abdominal Tuberculosis ◽  
Diagnostic Methods ◽  
Diagnostic Tools ◽  
Therapeutic Trial ◽  
Al Ain ◽  
Chest X Ray ◽  
Immunological Assays

Abstract Background: The delayed diagnosis and management of abdominal tuberculosis increases its mortality. We aimed to study the clinical presentation, management, and outcome of patients who had abdominal tuberculosis and treated at Al-Ain Hospital, Al-Ain City, United Arab Emirates.Methods: All patients who had abdominal tuberculosis and treated at Al-Ain Hospital between January 2011 and December 2018 were studied. Data were collected retrospectively using a structured protocol including demography, clinical presentation, diagnostic methods, management, and outcome. Results: Twenty-four patients having a median age of 30 years were studied with an incidence of 0.6/100,000 population. The most common symptoms were abdominal pain (95.8%) and malaise (79.2%). Fever was present only in nine patients (37.5%). Laboratory investigations, except the polymerase chain reaction immunoassay, were not helpful. Chest X-ray was abnormal in three patients (12.5%). Ultrasound and abdominal CT scan were nonspecific. Thirteen patients needed surgical intervention for diagnosis or therapy. Diagnosis was confirmed by histopathology in 15 patients (62.5%), immunological assays in 7 patients (29.2%), microbiological culture in one patient (4%), and therapeutic trial in one patient (4%). The most common type of abdominal tuberculosis was gastrointestinal in 13 patients (54.2%) followed by free wet peritonitis in five patients (20.8%). All patients had quadruple anti-tuberculous therapy for a minimum of six months. The median hospital stay was 6.5 days. None of our patients died. Conclusions: Diagnosis of abdominal tuberculosis remains challenging despite advancements in medical technology and diagnostic tools. The low percentage for the need for diagnostic therapy in our study supports the benefit of PCR assay. Surgery was mainly indicated as the last option to reach the diagnosis or to treat complications.

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