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Clinical Case Reports Feb 2024This unique case report of primary Sjogren's syndrome (pSS) shows bilateral ptosis and significant periorbital edema, compromising vision. To avoid misleading diagnosis,...
KEY CLINICAL MESSAGE
This unique case report of primary Sjogren's syndrome (pSS) shows bilateral ptosis and significant periorbital edema, compromising vision. To avoid misleading diagnosis, antibody tests must be evaluated and interpreted in the context of clinical findings.
ABSTRACT
Primary Sjögren's syndrome is an idiopathic, autoimmune disorder involving the lacrimal and salivary glands characterized by both localized and systemic manifestations including xerostomia and keratoconjunctivitis sicca. Myasthenia Gravis (MG) is also an autoimmune disorder characterized by the development of auto-antibodies against nicotinic acetylcholine receptors that causes decreased muscle response to stimulation. It usually presents with ptosis and generalized body weakness. Ophthalmological involvement is common in both disorders but ptosis is very rarely seen in pSS. We report the case of a 27-year-old woman presenting to our clinic with the complaint of ptosis and eyelid swelling. She also had a positive anti-acetylcholine receptor antibody test and her initial presentation mimicked Myasthenia Gravis. Her autoimmune workup revealed a positive titer of Anti Ro SSA antibodies. Myasthenia Gravis was ruled out on electrodiagnostic studies which showed no decremental response, and pSS was confirmed on lip biopsy. Our case highlights that it is important to interpret the antibody test results in the context of clinical findings as we can have spurious results in autoimmune diseases. Autoimmune conditions can have varying presenting complaints hence, clinical judgment should always overrule diagnostic investigations and should thus guide patient management.
PubMed: 38405359
DOI: 10.1002/ccr3.8554 -
Indian Journal of Pathology &... Jul 2023We report an unusual presentation of an orbital spindle cell hemangioma in a 40-year-old male, who noted sudden redness and swelling of the left eye on waking up. On...
We report an unusual presentation of an orbital spindle cell hemangioma in a 40-year-old male, who noted sudden redness and swelling of the left eye on waking up. On examination, the patient was found to have edema of upper eyelid edema, periorbital ecchymosis, and subconjunctival hemorrhage in the left eye at presentation. On treatment with topical medications, patient had transient symptomatic relief; however, he later developed blurring of vision. When seen 10 days later, the patient's left eye showed axial proptosis. Radiological investigations revealed an intraconal soft tissue mass in the left medial rectus. Emergency orbital decompression with mass excision was done; histopathological examination of the excised mass revealed spindle cell hemangioma. Postsurgery patient had complete restoration of vision. To our knowledge, an acute presentation of an orbital hemangioma with subconjunctival hemorrhage and periorbital ecchymosis, visual loss doesn't occur commonly; hence, such presentations have to be reviewed with care.
PubMed: 38391307
DOI: 10.4103/ijpm.ijpm_948_22 -
Cureus Jan 2024A 24-year-old female with a history of intravenous heroin use presented with two weeks of chills, myalgias, and cough and was found to be in acute hypoxemic respiratory...
A 24-year-old female with a history of intravenous heroin use presented with two weeks of chills, myalgias, and cough and was found to be in acute hypoxemic respiratory failure. Subsequent workup revealed the presence of bilateral septic pulmonary emboli and tricuspid valve endocarditis. Several weeks into her hospitalization, she developed periorbital edema and laboratory testing revealed she had developed acute renal failure and nephrotic range proteinuria. A renal biopsy confirmed the diagnosis of IgA-dominant Staphylococcus-associated glomerulonephritis (IgA-SAGN). Early recognition of this newly recognized variant of glomerulonephritis is paramount, as improper treatment may lead to catastrophic consequences.
PubMed: 38380208
DOI: 10.7759/cureus.52680 -
Journal of Oral and Maxillofacial... May 2024Periorbital edema and ecchymosis are frequently encountered after rhinoplasty and may be distressing to patients. Cold therapy is frequently employed in rhinoplasty to...
BACKGROUND
Periorbital edema and ecchymosis are frequently encountered after rhinoplasty and may be distressing to patients. Cold therapy is frequently employed in rhinoplasty to reduce postoperative edema and ecchymosis.
PURPOSE
The aim of this study was to evaluate the effect of cold saline irrigation (CSI) of dissection planes in rhinoplasty on postoperative edema and ecchymosis.
STUDY DESIGN, SETTING, SAMPLE
The investigators designed a retrospective cohort study. The data of patients who underwent rhinoplasty in our clinic between January 2021 and January 2023 were scanned. Patients who underwent primary open rhinoplasty from the same surgeon and standard rhinoplasty steps were applied in the same way and order were included in the study. Patients who had systemic diseases and previous nose surgery, and patients whose photographs could not be accessed from the photograph archive were excluded.
PREDICTOR VARIABLE
According to whether CSI was applied to the dissection plans during rhinoplasty, the patients were divided into the CSI group and the control group (without CSI).
MAIN OUTCOME VARIABLES
Patients' grades of periorbital edema and ecchymosis were the main outcome variables. The differences of outcome variables were compared between the 2 groups.
COVARIATES
Demographics (age, sex), and surgical detail (duration of surgery) were collected as covariates.
ANALYSES
The numerical variables were compared between the two groups using the student's t-test and Mann-Whitney U test, whereas the categorical variables were compared using Pearson's χ and Fisher's exact tests. P < .05 was considered statistically significant.
RESULTS
Among the 167 patients who met the inclusion criteria, 60 patients were randomly selected, 30 patients in each group. No statistically significant difference was found between the two groups in terms of age (P = .45) and sex (P = .27). The mean ecchymosis grade was statistically significant lower in the CSI group than in the control group for all evaluation times (P < .05). Similarly, the mean edema grade was statistically significant lower in the CSI group than in the control group for all evaluation times, with the exception of the 10th and 15th day (P < .05).
CONCLUSION AND RELEVANCE
CSI of the dissection planes in rhinoplasty reduced the development of periorbital edema and ecchymosis. This procedure is straightforward, inexpensive, and effective.
Topics: Humans; Rhinoplasty; Ecchymosis; Edema; Female; Male; Retrospective Studies; Adult; Postoperative Complications; Therapeutic Irrigation; Saline Solution; Dissection; Middle Aged; Cold Temperature
PubMed: 38378157
DOI: 10.1016/j.joms.2024.01.018 -
Malaysian Family Physician : the... 2024Orbital cellulitis is an extremely rare but potentially lethal condition in neonates. The clinical presentation of neonatal orbital cellulitis can be non-specific, and...
Orbital cellulitis is an extremely rare but potentially lethal condition in neonates. The clinical presentation of neonatal orbital cellulitis can be non-specific, and minimal signs of periorbital inflammation may go unrecognised by inexperienced parents or primary care medical personnel, leading to delayed treatment. Herein, we present a case series describing ophthalmia neonatorum complicated with neonatal orbital cellulitis owing to delayed treatment. The clinical presentation, management and outcomes are described. One neonate had orbital cellulitis, while the other had impending orbital cellulitis, with both cases resulting from delayed treatment of ophthalmia neonatorum. Both neonates were hospitalised for systemic antibiotic treatment and fully recovered with good outcomes. Timely identification and treatment of ophthalmia neonatorum are critical to mitigate potential severe sequelae, such as neonatal orbital cellulitis.
PubMed: 38371721
DOI: 10.51866/cr.438 -
The International Journal of... Feb 2024Oral rehabilitation of the atrophic maxilla using prostheses anchored on zygomatic implants is a well-documented process. To prevent the risk of sinusitis and or...
Oral rehabilitation of the atrophic maxilla using prostheses anchored on zygomatic implants is a well-documented process. To prevent the risk of sinusitis and or oro-antral communications, the placement of zygomatic implants with an externalized path has been proposed. In these cases where the sealing of the implant neck depends exclusively on a hemidesmosomal junction, there is a risk of dehiscence of the soft tissue. This can lead to esthetic problems, bone resorption, oro antral communication, cellulitis, and even orbital infection. To avoid soft tissue recession when implants are placed in a buccal position to the remaining ridge, different procedures have been proposed, the simplest being a good buccal coverage of the implant by keratinized tissue. In this technical note, we propose the use of a double pedicle palatal flap to increase the keratinized tissue buccal to the implant and, at the same time, to facilitate the incision closure by initial intention.
PubMed: 38363183
DOI: 10.11607/prd.7048 -
Journal of Pediatric Endocrinology &... Mar 2024Primary Coenzyme Q10 Deficiency-7 (OMIM 616276) results from bi-allelic pathogenic variants in the gene. Common clinical findings include hypotonia, seizures,... (Review)
Review
OBJECTIVES
Primary Coenzyme Q10 Deficiency-7 (OMIM 616276) results from bi-allelic pathogenic variants in the gene. Common clinical findings include hypotonia, seizures, respiratory distress, and cardiomyopathy. In this report, we present two patients diagnosed with Primary Coenzyme Q10 Deficiency-7 along with a review of previously published cases, with the aim being to provide a better understanding of the clinical and laboratory manifestations of the disease.
CASE PRESENTATION
A 3-month-and-22-day-old male was admitted to our outpatient clinic due to poor feeding and restlessness. He was born following an uneventful pregnancy to a nonconsanguineous marriage. A physical examination revealed hypotonia, a dolichocephaly, periorbital edema, and long eyelashes. Blood tests revealed metabolic acidosis and elevated serum lactate levels, while the genetic analysis revealed a variant previously reported as pathogenic, c.437T>G (p.Phe146Cys), in the gene. Genetic tests were also conducted on both mother and father, and it revealed heterozygous variant, 0.437T>G (p.Phe146Cys), in the gene. As a result of these findings, the patient was diagnosed with neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome (Primary Coenzyme Q10 Deficiency-7). A 1-year-old male was admitted to our clinic with complaints of hypotonia, seizures, and feeding difficulties. He was born following an uneventful pregnancy to a nonconsanguineous marriage. On his first day of life, he was admitted to the neonatal intensive care unit due to poor feeding and hypotonia. A physical examination revealed microcephaly, a high palate, poor feeding, weak crying, hypotonia, bilateral horizontal nystagmus, and inability to maintain eye contact. Laboratory findings were within normal limits, while a whole exome sequencing analysis revealed a homozygous variant previously reported as pathogenic, c.458C>T (p.A153V), in the gene. The patient was diagnosed with Primary Coenzyme Q10 Deficiency-7.
CONCLUSIONS
Primary Coenzyme Q10 Deficiency-7 should be considered in the differential diagnosis of infants presenting with neurological and dysmorphic manifestations.
Topics: Infant; Infant, Newborn; Pregnancy; Female; Humans; Male; Muscle Hypotonia; Mitochondrial Diseases; Ubiquinone; Seizures; Cardiomyopathies; Ataxia; Muscle Weakness
PubMed: 38353291
DOI: 10.1515/jpem-2023-0490 -
HNO Feb 2024Sinogenic orbital complications in children are relatively rare but critical conditions that require accurate diagnosis and timely appropriate treatment to prevent... (Review)
Review
BACKGROUND
Sinogenic orbital complications in children are relatively rare but critical conditions that require accurate diagnosis and timely appropriate treatment to prevent severe sequelae.
OBJECTIVE
This article concentrates on clinical, diagnostic, and therapeutic specifics of sinogenic orbital complications in children.
MATERIALS AND METHODS
The work is based on a literature review (PubMed, Google Scholar) and own experience as well as data from the authors' own pediatric population.
RESULTS
In children, sinogenic orbital complications are usually secondary due to acute bacterial sinusitis. Correct distinction between pre- and postseptal cellulitis is of utmost importance for correct diagnostic and therapeutic management in order to prevent long-term sequelae. Preseptal cellulitis can be treated conservatively. If there are signs of postseptal involvement, prompt cross sectional imaging will be required. Depending on the severity of the postseptal involvement, surgical treatment may be necessary.
CONCLUSION
Recent literature debates three main issues: 1) developing models for different combinations of symptoms that reliably distinguish between pre- and postseptal cellulitis; 2) selection of appropriate cross-sectional imaging (MRI vs. CT); and 3) indications for surgery. All three issues will be discussed in detail in this article.
PubMed: 38349568
DOI: 10.1007/s00106-024-01421-2 -
Frontiers in Immunology 2024To assess the impact conferred by variants on the clinical spectrum of patients with systemic autoinflammatory diseases (SAIDs) in Greece. (Review)
Review
OBJECTIVE
To assess the impact conferred by variants on the clinical spectrum of patients with systemic autoinflammatory diseases (SAIDs) in Greece.
METHODS
Consecutive patients (n=167) with confirmed SAIDs who underwent screening by next generation sequencing (NGS) targeting 26 SAID-associated genes, and carried at least one gene variant, were retrospectively studied. The demographic, clinical and laboratory parameters were recorded.
RESULTS
In total, 24 rare variants in 23/167 patients (14%) were detected. Notably, 18 patients had at least one co-existing variant in 13 genes other than . Nine patients had juvenile- and 14 adult-onset disease. All patients presented with symptoms potentially induced by the variants. In particular, the candidate clinical diagnosis was Yao syndrome (YAOS) in 12 patients (7% of the whole SAID cohort). The clinical spectrum of patients with YAOS (mean episode duration 8 days) was fever (n=12/12), articular symptoms (n=8), gastrointestinal symptoms (n=7; abdominal pain/bloating in 7; diarrhea in 4; oral ulcers in 3), serositis (n=7), and rash (n=5), while the inflammatory markers were elevated in all but one patient. Most of these patients showed a poor response to nonsteroidal anti-inflammatory drugs (n=7/9), colchicine (n=6/8) and/or anti-TNF treatment (n=3/4), while a complete response was observed in 6/10 patients receiving steroids and 3/5 on anti-IL1 treatment. Another 8 patients were diagnosed with either FMF (n=6) or PFAPA syndrome (n=2) presenting with prominent diarrhea (n=7), oral ulcers (n=2), periorbital swelling and sicca-like symptoms (n=1), or maculopapular rash (n=1). One patient had a clinically undefined SAID, albeit characterized by oral ulcers and diarrhea. Finally, one patient presented with chronic relapsing urticaria with periorbital edema and inflammatory markers, and another one had a Crohn-like syndrome with good response to anti-IL-1 but refractory to anti-TNF treatment.
CONCLUSION
variants were detected in 1 out of 7 SAID patients and seem to have an impact on disease phenotype and treatment response. Further studies should validate combined molecular and clinical data to better understand these distinct nosological entities.
Topics: Adult; Animals; Humans; Hereditary Autoinflammatory Diseases; Retrospective Studies; Oral Ulcer; Simian Acquired Immunodeficiency Syndrome; Tumor Necrosis Factor Inhibitors; Diarrhea; Exanthema; Nod2 Signaling Adaptor Protein
PubMed: 38348033
DOI: 10.3389/fimmu.2024.1342668 -
JAMA Pediatrics Apr 2024Diagnostic delays are common in the emergency department (ED) and may predispose to worse outcomes.
IMPORTANCE
Diagnostic delays are common in the emergency department (ED) and may predispose to worse outcomes.
OBJECTIVE
To evaluate the association of annual pediatric volume in the ED with delayed diagnosis.
DESIGN, SETTING, AND PARTICIPANTS
This retrospective cohort study included all children younger than 18 years treated at 954 EDs in 8 states with a first-time diagnosis of any of 23 acute, serious conditions: bacterial meningitis, compartment syndrome, complicated pneumonia, craniospinal abscess, deep neck infection, ectopic pregnancy, encephalitis, intussusception, Kawasaki disease, mastoiditis, myocarditis, necrotizing fasciitis, nontraumatic intracranial hemorrhage, orbital cellulitis, osteomyelitis, ovarian torsion, pulmonary embolism, pyloric stenosis, septic arthritis, sinus venous thrombosis, slipped capital femoral epiphysis, stroke, or testicular torsion. Patients were identified using the Healthcare Cost and Utilization Project State ED and Inpatient Databases. Data were collected from January 2015 to December 2019, and data were analyzed from July to December 2023.
EXPOSURE
Annual volume of children at the first ED visited.
MAIN OUTCOMES AND MEASURES
Possible delayed diagnosis, defined as a patient with an ED discharge within 7 days prior to diagnosis. A secondary outcome was condition-specific complications. Rates of possible delayed diagnosis and complications were determined. The association of volume with delayed diagnosis across conditions was evaluated using conditional logistic regression matching on condition, age, and medical complexity. Condition-specific volume-delay associations were tested using hierarchical logistic models with log volume as the exposure, adjusting for age, sex, payer, medical complexity, and hospital urbanicity. The association of delayed diagnosis with complications by condition was then examined using logistic regressions.
RESULTS
Of 58 998 included children, 37 211 (63.1%) were male, and the mean (SD) age was 7.1 (5.8) years. A total of 6709 (11.4%) had a complex chronic condition. Delayed diagnosis occurred in 9296 (15.8%; 95% CI, 15.5-16.1). Each 2-fold increase in annual pediatric volume was associated with a 26.7% (95% CI, 22.5-30.7) decrease in possible delayed diagnosis. For 21 of 23 conditions (all except ectopic pregnancy and sinus venous thrombosis), there were decreased rates of possible delayed diagnosis with increasing ED volume. Condition-specific complications were 11.2% (95% CI, 3.1-20.0) more likely among patients with a possible delayed diagnosis compared with those without.
CONCLUSIONS AND RELEVANCE
EDs with fewer pediatric encounters had more possible delayed diagnoses across 23 serious conditions. Tools to support timely diagnosis in low-volume EDs are needed.
Topics: Child; Humans; Male; Female; Retrospective Studies; Delayed Diagnosis; Emergency Service, Hospital; Pregnancy, Ectopic; Venous Thrombosis
PubMed: 38345811
DOI: 10.1001/jamapediatrics.2023.6672