scholarly journals Congenital cholesteatoma of mastoid origin: A multicenter case series

2014 ◽  
Vol 71 (7) ◽  
pp. 619-622 ◽  
Author(s):  
Ljiljana Cvorovic ◽  
Dragoslava Djeric ◽  
Ljiljana Vlaski ◽  
Dragan Dankuc ◽  
Ivan Baljosevic ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Delayed Diagnosis ◽  
Case Series ◽  
Rare Condition ◽  
Descriptive Study ◽  
Canal Wall ◽  
Congenital Cholesteatoma ◽  
External Canal ◽  
Early Imaging ◽  
Data Files

Background/Aim. The mastoid is the rarest site for the onset of congenital cholesteatoma (CC). The symptoms are atypical and minimal. The aim of this multicenter retrospective descriptive study was to define this extremely rare condition and its clinical presentation, diagnosis and management. Methods. We analyzed data files for a 15- year period in 4 tertiary otology centers and discovered 6 patients with the diagnosis of CC of the mastoid. Results. The clinical presentation of CC varied from incidental findings in patient to patient with otogenic meningitis. The most common findings during surgical procedures were mastoid cortex erosion, sigmoid plate dehiscence, dural exposure and external canal wall destruction. Conclusion. CC of mastoid origin tends to occur in adult patients probably because of minimal symptoms and the delayed diagnosis. It can exist for years in a nonaggressive state and develop to giant sizes. In children it is almost incidentally diagnosed. Early imaging is necessary in order to prevent serious complication.

scholarly journals Clinical Presentation of Congenital Cholesteatoma of the External Auditory Canal in Goldenhar Syndrome: A Case Series

2019 ◽  
Vol 5 (2) ◽  
pp. 44 ◽  
Author(s):  
Sarah Elizabeth Hodge ◽  
April Amber Peterson ◽  
Brendan Powers O’Connell ◽  
Amelia Fischer Drake
Keyword(s):  
External Auditory Canal ◽  
Clinical Presentation ◽  
Case Series ◽  
Goldenhar Syndrome ◽  
Congenital Cholesteatoma

scholarly journals Unique Case Series of Occipital Sinus and Its Thrombosis- A Radiological Marvel

2020 ◽  
Vol 8 (1) ◽  
pp. 44-47
Author(s):  
R. Harikiran Reddy ◽  
Pooja Subramanya ◽  
Joish Upendra Kumar ◽  
B. Gurumurthy ◽  
Punya. J ◽  
...  
Keyword(s):  
Case Reports ◽  
Case Series ◽  
Rare Condition ◽  
Intraventricular Haemorrhage ◽  
Descriptive Study ◽  
Surgical Approaches ◽  
Venous Anatomy ◽  
Unique Case ◽  
Occipital Sinus ◽  
Comprehensive Knowledge

Background: Variations of the dural venous sinuses may result in inaccurate imaging interpretation or complications during surgical approaches. One of these variations reported infrequently is the occipital sinus with an overall incidence of under 10%.When present, it may get thrombosed or become source of intracranial bleeds or pose difficulty during occipital craniotomies. Our review suggests that the thrombosis of this unique venous sinus variant is a rare condition as there are very few case reports of the same. Herein, we present a case series of persistent occipital sinus and the unusual combination of a persistent occipital sinus and its thrombosis. Subjects and Methods: The study included 4 paediatric cases that presented with neonatal seizuressecondary to different underlying aetiologies and in retrospect had either persistent andpatent occipital sinus or a thrombosed occipital sinus. A descriptive study of the aforementioned cases was carried out. MRI scanner PHILIPS Achieva 1.5 Tesla was used for diagnosis. Results: One case had thrombosis of bilateral persistent occipital sinuses and superficial cortical veins with minimal intraventricular haemorrhage in bilateral lateral ventricles.Second case had persistent and thrombosed right occipital sinus; while two other cases had persistent but patent occipital sinuses. Conclusion: A comprehensive knowledge of cerebral venous anatomy and meticulous recognition of venous variations essentially helps when dealing with a pathology, which presents along with a particular venous variation, no matter how rare this combination is.

scholarly journals P14.87 Leptomeningeal dissemination in high grade glioma: Correlation of MRI, cytology and standard CSF indices

2019 ◽  
Vol 21 (Supplement_3) ◽  
pp. iii88-iii88
Author(s):  
H Durand ◽  
F Lamy ◽  
T Parratte ◽  
A Brinet ◽  
A Blain ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Case Series ◽  
Rare Condition ◽  
High Grade Glioma ◽  
Treatment Modalities ◽  
High Grade ◽  
Leptomeningeal Dissemination ◽  
Csf Analysis ◽  
Lactate Levels ◽  
Elevated Lactate

Abstract BACKGROUND Only few studies report the incidence of leptomeningeal dissemination (LMD) in patients with high grade glioma (HGG), although LMD is not a rare condition of recurrence. We aimed to describe the diagnostic features and treatment modalities in a series of patients treated for HGG in our institution. METHODS Review of clinical presentation, radiological features and CSF analysis in a case series. RESULTS 17 patients from our institution were diagnosed with LMD. The diagnosis of LMD was based on magnetic resonance image and/or cerebrospinal fluid (CSF) analysis. The spectrum of clinical presentation was broad, mainly intracranial hypertension, impaired general condition, pain, worsening of pre-existing symptoms, and epileptic seizures. Median time from onset of clinical deterioration to diagnosis of LMD was 3 weeks (0–16). Leptomeningial involvement was reported in 6/17 at initial MRI reading, whereas reassessment with careful comparison to previous MRI showed signs of LMD in all patients. CSF analysis revealed pleocytosis (11/17), high proteinorrachia (13/17), elevated lactate levels (15/16), low glucose levels (5/17), and increased CSF pressure (5/9). Nevertheless, diagnostic accuracy of initial CSF cytological analysis was low (2/17). A reassessment of the specimen by an experienced neuropathologist disclosed 1 additional positive and 1 additional suspect cytology. After diagnosis of LMD, salvage treatments comprised Bevacizumab, Lomustine, Fotemustine, liposomal cytarabine and best supportive care. The median overall survival after the diagnosis was 3 months. DISCUSSION AND CONCLUSIONS LMD in HGG is not a rare condition of recurrence, and its outcome is poor. It remains a diagnostic challenge, as it may be overlooked on MRI follow-up at its early stage. In case of clinical progression with no overt cause reported on MRI, we recommend careful second MRI reading. In case of doubt lumbar puncture should be performed in order to prove LMD and eliminate infection (i.e. HSV). Upon standard CSF indices, elevated lactate levels should give rise to the suspicion of LMD. Cytological CSF analysis seems to be of low diagnostic yield: This may be improved by faster processing after sampling and by standardized workup including staining with IDH, GFAP and Olig2.

Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature

2021 ◽  
Author(s):  
Stephanie Christensen ◽  
Peter J. Tebben ◽  
David Sas ◽  
Ana L. Creo
Keyword(s):  
Literature Review ◽  
Clinical Presentation ◽  
Case Series ◽  
Rare Condition ◽  
Signs And Symptoms ◽  
Hypophosphatemic Rickets ◽  
Urinary Stones ◽  
Old Patients ◽  
Dihydroxyvitamin D ◽  
Variable Clinical Presentation

Introduction: Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) is a rare condition of renal phosphate wasting due to SLC34A3 mutations [1]. Patients exhibit low serum phosphorus, high 1,25-dihydroxyvitamin D and inappropriately high urine phosphate and calcium. However, symptoms vary and little is known about specific phenotype-genotype correlations. Methods: We report three HHRH cases in unrelated 12-year-old, 9-year-old and 14-year-old patients and perform a systematic literature review. Results: All three patients exhibited labs typical of HHRH. Yet, their presentations differed and 2 novel SLC34A3 variants were identified. As found in the literature review, bone symptoms are most common (50%), followed by renal symptoms (17%), combined bone and renal symptoms (18%) and asymptomatic (9%). Conclusion: These three cases highlight the variability of presenting signs and symptoms among individuals with HHRH. An accurate diagnosis is critical, as treatment differs from other disorders of phosphate wasting, urinary stones, and mineralization defects.

scholarly journals Tuberculosis joint infections in four domestic cats

2017 ◽  
Vol 3 (2) ◽  
pp. 205511691771940 ◽  
Author(s):  
Stephanie M Lalor ◽  
Stephen Clarke ◽  
Jonathan Pink ◽  
Andrew Parry ◽  
Emma Scurrell ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Delayed Diagnosis ◽  
Case Series ◽  
Joint Disease ◽  
Mycobacterial Disease ◽  
Radiological Findings ◽  
Joint Infections ◽  
Soft Tissue Swelling ◽  
High Degree ◽  
Mycobacterium Microti

Case series summary This paper describes the clinical presentation, diagnostic imaging findings and outcome in four cats with confirmed joint-associated tuberculosis. The cats were 2–6 years of age, and immune competent. Three cases had tuberculosis affecting only one joint, whereas one case had at least three joints affected. Two cases were caused by Mycobacterium bovis, and the other two were caused by Mycobacterium microti. Radiological findings included osteolysis, periosteal reaction and associated soft tissue swelling. Two cases were euthanased and two cases responded well to amputation and follow-on antibiotic therapy. Relevance and novel information To our knowledge, this is the first publication of a series of cats with joint-associated tuberculosis. Although tuberculosis is not common, a high degree of suspicion is needed to avoid delayed diagnosis. This case series highlights the importance of considering mycobacterial disease as a differential for joint disease in cats.

scholarly journals Diagnostic Dilemma in a Young Woman with Acute Headache: Delayed Diagnosis of Third Ventricular Colloid Cyst with Hydrocephalus

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Jasem Y. Al-Hashel ◽  
Azza A. H. Rady ◽  
Doaa Y. Soliman ◽  
Periasamy Vembu
Keyword(s):  
Clinical Presentation ◽  
Surgical Intervention ◽  
Third Ventricle ◽  
Delayed Diagnosis ◽  
Colloid Cyst ◽  
Sudden Onset ◽  
Diagnostic Dilemma ◽  
Early Management ◽  
Early Imaging ◽  
Acute Headache

Objectives. To highlight the importance of early diagnosis of colloid cyst of the third ventricle and its early management.Clinical Presentation and Intervention. This is a young lady who presented with sudden onset headache. She attended a local clinic and also her area hospital. Her diagnosis was delayed several hours due to a diagnostic dilemma initially. No surgical intervention was tried since the patient developed early signs of brainstem coning by the time she was seen by neurosurgeon. Patient died after few days in spite of intensive ICU measures.Conclusion. Sudden onset headache in young adults should be looked at carefully. Early imaging is mandatory to prevent mortality.

Esophageal Atresia and Associated Duodenal Atresia: A Cohort Study and Review of the Literature

2020 ◽  
Author(s):  
Maria Enrica Miscia ◽  
Giuseppe Lauriti ◽  
Dacia Di Renzo ◽  
Angela Riccio ◽  
Gabriele Lisi ◽  
...  
Keyword(s):  
Cohort Study ◽  
Esophageal Atresia ◽  
Primary Repair ◽  
English Literature ◽  
Delayed Diagnosis ◽  
Case Series ◽  
Primary Treatment ◽  
Duodenal Atresia ◽  
Staged Approach ◽  
Missed Diagnosis

Abstract Introduction Esophageal atresia (EA) is associated with duodenal atresia (DA) in 3 to 6% of cases. The management of this association is controversial and literature is scarce on the topic. Materials and Methods We aimed to (1) review the patients with EA + DA treated at our institution and (2) systematically review the English literature, including case series of three or more patients. Results Cohort study: Five of seventy-four patients with EA had an associated DA (6.8%). Four of five cases (80%) underwent primary repair of both atresia, one of them with gastrostomy placement (25%). One of five cases (20%) had a delayed diagnosis of DA. No mortality has occurred. Systematic Review: Six of six-hundred forty-five abstract screened were included (78 patients). Twenty-four of sixty-eight (35.3%) underwent primary correction of EA + DA, and 36/68 (52.9%) underwent staged correction. Nine of thirty-six (25%) had a missed diagnosis of DA. Thirty-six of sixty-eight underwent gastrostomy placement. Complications were observed in 14/36 patients (38.9 ± 8.2%). Overall mortality reported was 41.0 ± 30.1% (32/78 patients), in particular its incidence was 41.7 ± 27.0% after a primary treatment and 37.0 ± 44.1% following a staged approach. Conclusion The management of associated EA and DA remains controversial. It seems that the staged or primary correction does not affect the mortality. Surgeons should not overlook DA when correcting an EA.

Long-term outcomes of lumbar microdiscectomy in the pediatric population: a large single-institution case series

2019 ◽  
Vol 24 (5) ◽  
pp. 549-557
Author(s):  
Malia McAvoy ◽  
Heather J. McCrea ◽  
Vamsidhar Chavakula ◽  
Hoon Choi ◽  
Wenya Linda Bi ◽  
...  
Keyword(s):  
Conservative Management ◽  
Functional Outcomes ◽  
Pediatric Patients ◽  
Clinical Presentation ◽  
Case Series ◽  
Csf Leak ◽  
Single Institution ◽  
The Mean

OBJECTIVEFew studies describe long-term functional outcomes of pediatric patients who have undergone lumbar microdiscectomy (LMD) because of the rarity of pediatric disc herniation and the short follow-up periods. The authors analyzed risk factors, clinical presentation, complications, and functional outcomes of a single-institution series of LMD patients over a 19-year period.METHODSA retrospective case series was conducted of pediatric LMD patients at a large pediatric academic hospital from 1998 to 2017. The authors examined premorbid risk factors, clinical presentation, physical examination findings, type and duration of conservative management, indications for surgical intervention, complications, and postoperative outcomes.RESULTSOver the 19-year study period, 199 patients underwent LMD at the authors’ institution. The mean age at presentation was 16.0 years (range 12–18 years), and 55.8% were female. Of these patients, 70.9% participated in competitive sports, and among those who did not play sports, 65.0% had a body mass index greater than 25 kg/m2. Prior to surgery, conservative management had failed in 98.0% of the patients. Only 3 patients (1.5%) presented with cauda equina syndrome requiring emergent microdiscectomy. Complications included 4 cases of postoperative CSF leak (2.0%), 1 case of a noted intraoperative CSF leak, and 3 cases of wound infection (1.5%). At the first postoperative follow-up appointment, minimal or no pain was reported by 93.3% of patients. The mean time to return to sports was 9.8 weeks. During a mean follow-up duration of 8.2 years, 72.9% of patients did not present again after routine postoperative appointments. The total risk of reoperation was a rate of 7.5% (3.5% of patients underwent reoperation for the same level; 4.5% underwent adjacent-level decompression, and one patient [0.5%] ultimately underwent a fusion).CONCLUSIONSMicrodiscectomy is a safe and effective treatment for long-term relief of pain and return to daily activities among pediatric patients with symptomatic lumbar disc disease in whom conservative management has failed.

scholarly journals Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II)

2021 ◽  
pp. 1-3
Author(s):  
Priyanka Prasanna ◽  
Chenni S. Sriram ◽  
Sarah H. Rodriguez ◽  
Utkarsh Kohli
Keyword(s):  
Autosomal Recessive ◽  
Ventricular Dysfunction ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Rare Condition ◽  
Autosomal Recessive Disorder ◽  
Left Ventricular ◽  
Type I ◽  
Neonatal Onset ◽  
Cardiovascular Involvement

Abstract Sialidosis, a rare autosomal recessive disorder, is caused by a deficiency of NEU1 encoded enzyme alpha-N-acetyl neuraminidase. We report a premature male with neonatal-onset type II sialidosis which was associated with left ventricular dysfunction. The clinical presentation and subsequent progression which culminated in his untimely death at 16 months of age are succinctly described. Early-onset cardiovascular involvement as noted in this patient is not well characterised. The case report is supplemented by a comprehensive review of the determinants, characteristics, and the clinical course of cardiovascular involvement in this rare condition.

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