A case report of a patient with recurrent and severe infections highlighting the importance of considering inborn errors of immunity.

Inborn errors of immunity (IEI) can often be misdiagnosed early in life due to their heterogenous clinical presentations. Interleukin-1 receptor-associated kinase 4 (IRAK-4) deficiency is one of the rare innate immunodeficiency disorders. We present the case of a patient who presented at the age of 15 days with meningitis and septic shock that responded to antibiotics. She was admitted again at the age of 45 days with pseudomonas aeruginosa bacteremia that was associated with increased inflammatory markers. Her third admission was at the age of 2.5 months due to left sided peri-orbital cellulitis that was again associated with elevated inflammatory markers. At 3.5 months, she experienced left orbital cellulitis, which was complicated by extensive sinus involvement, erosion, and abscess formation in the pterygopalatine fossa. Her condition progressed to septic shock and required multiple antibiotics and surgical interventions for drainage and control of the infection source. Both abscess and blood culture were positive for pseudomonas aeruginosa. An IEI was suspected but basic immunology testing was normal. Whole Exome Sequencing was performed and a novel mutation in IRAK4 was detected. In conclusion, we highlight the importance of raising awareness among pediatricians about the potentially lethal IEI and the need to consult specialists when these diseases are suspected. Among them is IRAK-4 deficiency which can be diagnosed by sophisticated functional assays and/or genetic testing.

Management of a pediatric patient with spontaneous cerebrospinal fluid leak in the lateral recess of sphenoid sinus and meningoencephalocele: A case report and literature review.

INTRODUCTION AND IMPORTANCE: Spontaneous cerebrospinal fluid (CSF) leak in the lateral recess of the sphenoid (LRS) sinus in a pediatric population is rare and is surgically challenging to repair. CASE PRESENTATION: We report a case of a 13-year-old girl with hydrocephalus and a ventriculoperitoneal shunt who presented with a two-month history of clear rhinorrhea from the right nostril. Computed tomography (CT) of the head was performed and showed CSF leak through a defect in the lateral recess of the sphenoid sinus. Defect closure was achieved using an endoscopic endonasal approach. CLINICAL DISCUSSION: CSF leak with meningoencephalocele from the sphenoid sinus is amongst the most difficult cases for repair. Yet the successful rate of repair is as high as 90 % if done endoscopically. Moreover, the location of the defect determines the surgical approach. CONCLUSION: Spontaneous CSF rhinorrhea from the lateral recess of the sphenoid (LRS) sinus, although rare, requires prompt diagnosis and treatment, as it may lead to significant mortality and morbidity.

Endoscopic Endonasal Surgery for Uncommon Pathologies of the Sellar and Parasellar Regions.

Endoscopic skull base surgery has become an integral part of the present neurosurgical armamentarium. The pioneering efforts in which the purely endoscopic transsphenoidal approach was introduced have triggered a growing tide of using the endoscopic endonasal procedures for a large variety of skull base lesions. Because of their anatomical peculiarities, lesions of the sellar and parasellar regions lend themselves very well to the endoscopic endonasal approaches. Apart from the common pathological entities, many other less frequent pathologies are encountered in the sellar and parasellar area. In this chapter, we review the surgical technique of the endoscopic endonasal transsphenoidal approach and its extensions applied to a variety of rare and uncommon pathological entities involving the sella turcica and clivus. An overview of these pathological entities is also presented and exemplified.

Multiple spontaneous cerebrospinal fluid leaks: a rare case report and review of literature.

While a spontaneous cerebrospinal fluid leak (sCSFL) is a rare phenomenon, patients who present with multiple cerebrospinal fluid leaks (mCSFLs) are an even rarer entity. There have been documented cases reported over the last decades, but many with only limited descriptions of each patient. We present a mCSFL patient as a case report and demonstrate the need for future prospective studies to improve further understanding and management of the condition. This is explored through summarizing the literature on mCSFLs to the present time. A 45-year-old obese female presented with a 5-week history of bilateral clear nasal discharge with no previous surgery or trauma. Initially misdiagnosed as allergic rhinitis, nasal discharge was later confirmed positive for beta-2-transferrin and a CT scan revealed multiple bony areas of skull base erosion. The patient underwent image guided endoscopic sinus surgery with multilayer skull base defect repair of three active CSFLs. Three months post-operatively the patient had no evidence of a recurrence. As mCSFL tend to be sporadic and asymptomatic in nature, it is likely they are underreported. Future prospective studies in the area of mCSFLs that take into consideration demographic and geographical information are needed for more accurate interpretation and better recruitment. Additionally, studies need to ensure longer follow-up time due to the underlying chronicity of increased intracranial pressure (ICP) and investigate whether or not a non-active leak site should be repaired or left alone.

The prevalence of CFTR mutations in patients with chronic rhinosinusitis: A systematic review and meta-analysis.

OBJECTIVES: Undetected cystic fibrosis transmembrane regulator (CFTR) mutations may predispose individuals to develop CRS independent of formal CF diagnosis. The objective of this study was to determine the prevalence of CFTR mutations among individuals with CRS. DESIGN: A systematic search following PRISMA guidelines was performed. A meta-analysis was performed to calculate pooled estimates for the prevalence of any CFTR mutation and for the DF508 mutation. SETTING AND PARTICIPANTS: The systematic search included all studies identifying adults diagnosed with CRS, with no limitation to region or publication date. Studies had to identify a sample of patients previously diagnosed with CRS but not with CF and reporting testing for the prevalence of CF or the CFTR gene mutation. MAIN OUTCOME MEASURES: Prevalence of CFTR mutations among the general CRS population, with subgroup analysis of individuals with the dF508 mutation. RESULTS AND CONCLUSIONS: The 6 included studies represented five countries: the United States, the UK, France, Poland and Finland. The pooled prevalence of CFTR mutations of any kind in CRS subjects without CF was 5.65% (RE 95% CI 2.99 - 10.41). The overall prevalence for the dF508 mutation was 4.22% (RE 95% CI 1.71 - 10.07). These estimates were significantly higher than the baseline estimated prevalence of CFTR carrier status of 3%-4% in the general population. However, the clinical relevance of the presence of CFTR mutations in CRS patients who have not been diagnosed with CF is currently unclear. Future studies should include sweat chloride testing as a measure of CFTR function.

Non-Hodgkin's Lymphoma of the Middle Ear Presenting as Mastoiditis.

Lymphoma originating from the middle ear is rare. The diagnosis of lymphoma as with other cancers of the temporal bone is often made late, and this has a negative implication on the treatment and prognosis of the condition. The delay of diagnosis is mainly due to the similar presentation shared with other benign conditions of the middle ear. We present a case of a 62-year-old man who was treated as a case of chronic otitis media for a period of time before presenting with advanced symptoms; a final diagnosis of lymphoma of the middle ear was given. Other similar cases in the literature are discussed and reviewed. Severe and persistent symptoms of the middle ear should raise red flags and warrant detailed investigations.

Diagnostic accuracy of clinical tests for subacromial impingement syndrome: a systematic review and meta-analysis.

OBJECTIVE: To examine the accuracy of clinical tests for diagnosing subacromial impingement syndrome (SIS). DATA SOURCES: A systematic literature search was conducted in January 2011 to identify all studies that examined the diagnostic accuracy of clinical tests for SIS. The following search engines were used: Cochrane Library, EMBASE, Science Direct, and PubMed. STUDY SELECTION: Two reviewers screened all articles. We included prospective or retrospective cohort studies that examined individuals with a painful shoulder, reported any clinical test for SIS, and used arthroscopy or open surgery as the reference standard. The search strategy yielded 1338 articles of which 1307 publications were excluded based on title/abstract. Sixteen of the remaining 31 articles were included. The PRISMA (preferred reporting items for systematic reviews and meta-analyses) guidelines were followed to conduct this review. DATA EXTRACTION: The number of true positives, false positives, true negatives, and false negatives for each clinical test were extracted from relevant studies, and a 2×2 table was constructed. Studies were combined using a bivariate random-effects model. Heterogeneity was assessed using the variance of logit-transformed sensitivity and specificity. DATA SYNTHESIS: Ten studies with 1684 patients are included in the meta-analysis. The Hawkins-Kennedy test, Neer's sign, and empty can test are shown to be more useful for ruling out rather than ruling in SIS, with greater pooled sensitivity estimates (range, .69-.78) than specificity (range, .57-.62). A negative Neer's sign reduces the probability of SIS from 45% to 14%. The drop arm test and lift-off test have higher pooled specificities (range, .92-.97) than sensitivities (range, .21-.42), indicating that they are more useful for ruling in SIS if the test is positive. CONCLUSIONS: This systematic review quantifies the diagnostic accuracy of 5 clinical tests for SIS, in particular the lift-off test. Accurate diagnosis of SIS in clinical practice may serve to improve appropriate treatment and management of individuals with shoulder complaints.