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

OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%). Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%), abnormalities of the ear helix/dysplastic ears (70%), prominent occiput (52%), posteriorly rotated (46%) and low set ears (44%), and short palpebral fissures/blepharophimosis (46%). Other uncommon - but relevant - abnormalities included: microtia (18%), orofacial clefts (12%), preauricular tags (10%), facial palsy (4%), encephalocele (4%), absence of external auditory canal (2%) and asymmetric face (2%). One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature.

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Congenital cholesteatoma of mastoid origin: A multicenter case series

Vojnosanitetski pregled ◽

10.2298/vsp120130005c ◽

2014 ◽

Vol 71 (7) ◽

pp. 619-622 ◽

Cited By ~ 5

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.

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Clinical Manifestations of Goldenhar Syndrome

The Professional Medical Journal ◽

10.29309/tpmj/2013.20.04.1128 ◽

2013 ◽

Vol 20 (04) ◽

pp. 617-622

Author(s):

FUAD AHMAD KHAN NIAZI ◽

ABDUL MUNIM KHAN ◽

MANAL NIAZI ◽

Muhammad Afzal Khan Niazi

Keyword(s):

Nerve Palsy ◽

Clinical Presentation ◽

Clinical Manifestations ◽

Case Series ◽

Goldenhar Syndrome ◽

Hemifacial Microsomia ◽

Upper Lip ◽

Mandibular Hypoplasia ◽

Planning Treatment ◽

Limbal Dermoid

Goldenhar syndrome is a congenital disorder with diverse clinical presentation. This case series describes variousclinical manifestations of Goldenhar Syndrome. Materials and Methods: 11 patients at least two of the described features of Goldenharsyndrome were randomly included in the study to form a case series. Clinical data of all these subjects was documented, described inpercentages and analyzed. Results: Out of the 11 patients studied, 6 were females and 5 males. Mean age was 7.3 years (ranging from 1year to 23 years). 7 (63.6%) patients had a limbal dermoid, 6 (54.5%) patient had mandibular hypoplasia, whereas only 3(27.3%)presented with hemifacial microsomia. Spinal defects and polydactyly were present in (36.4%) patients each. There was one patient (9%)who had both microphthalmia and lid coloboma in addition to limbal dermoid. Similarly, renal defect (atrophic kidney), cleft upper lip andpalate and CNS defect (7th nerve palsy) were present in one patient (9%) each. None of our patients had either cardiac or GIT defect.Conclusions: In our study we were able to document the variable manifestations of Goldenhar syndrome with their frequencies. Thisknowledge base will help us in planning treatment and assistance strategies or these patients.

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

Journal of Neurosurgery Pediatrics ◽

10.3171/2019.6.peds18716 ◽

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.

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A national study of choanal atresia in tertiary care centers in Canada – part I: clinical presentation

Journal of Otolaryngology - Head and Neck Surgery ◽

10.1186/s40463-021-00517-x ◽

2021 ◽

Vol 50 (1) ◽

Author(s):

Josee Paradis ◽

Agnieszka Dzioba ◽

Hamdy El-Hakim ◽

Paul Hong ◽

Frederick K. Kozak ◽

...

Keyword(s):

Respiratory Distress ◽

Clinical Presentation ◽

Tertiary Care ◽

Choanal Atresia ◽

Case Series ◽

Retrospective Chart Review ◽

National Study ◽

Feeding Difficulties ◽

Presenting Symptoms ◽

Tertiary Care Centers

Abstract Background To evaluate the clinical presentation of choanal atresia (CA) in tertiary centers across Canada. Methods Multi-centre case series involving six tertiary care pediatric hospitals across Canada. Retrospective chart review of patients born between 1980 and 2010 diagnosed with CA at a participating center. Results The health charts of 215 patients (59.6% female) with CA were reviewed and included in this study. The mean age of patients at time of CA presentation was 0.4 months (range 0.1 to 7.2 months) for bilateral CA and 37.8 months (range 0.1 to 164.1 months) for unilateral cases. The most common presenting symptoms for bilateral CA in decreasing order were respiratory distress (96.4%), feeding difficulties (68.2%), and rhinorrhea (65.5%), and for unilateral cases in decreasing order were rhinorrhea (92.0%), feeding difficulties (24.7%), and respiratory distress (18.0%). For the majority of patients (73.2%), the obstruction comprised mixed bony and membranous tissue, with only 10.5% presenting with a purely membranous obstruction. Familial history of CA was confirmed in only 3.3% of cases. One half of patients with CA presented with one or more associated anomalies and 30.6% had a syndrome. Conclusions The present investigation is the first national multi-institutional study evaluating the clinical presentation of CA over three decades. The present cohort of CA patients presented with a breadth of co-morbidities with highly variable presentations, with bilateral cases being more severely affected than unilateral cases. Further investigation into hereditary linkages to CA development is warranted. Graphical abstract

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Atypical Clinical Presentation of Laryngopharyngeal Reflux: A 5-Year Case Series

Journal of Clinical Medicine ◽

10.3390/jcm10112439 ◽

2021 ◽

Vol 10 (11) ◽

pp. 2439

Author(s):

Jerome R. Lechien ◽

Stéphane Hans ◽

Francois Bobin ◽

Christian Calvo-Henriquez ◽

Sven Saussez ◽

...

Keyword(s):

Clinical Presentation ◽

Laryngopharyngeal Reflux ◽

Case Series ◽

Clinical Findings ◽

Aerodigestive Tract ◽

Common Disease ◽

Upper Aerodigestive Tract ◽

Suppurative Otitis Media ◽

Adequate Treatment ◽

Atypical Clinical Presentation

Background: Laryngopharyngeal reflux (LPR) is a common disease in otolaryngology characterized by an inflammatory reaction of the mucosa of the upper aerodigestive tract caused by digestive refluxate enzymes. LPR has been identified as the etiological or favoring factor of laryngeal, oral, sinonasal, or otological diseases. In this case series, we reported the atypical clinical presentation of LPR in patients presenting in our clinic with reflux. Methods: A retrospective medical chart review of 351 patients with LPR treated in the European Reflux Clinic in Brussels, Poitiers and Paris was performed. In order to be included, patients had to report an atypical clinical presentation of LPR, consisting of symptoms or findings that are not described in the reflux symptom score and reflux sign assessment. The LPR diagnosis was confirmed with a 24 h hypopharyngeal-esophageal impedance pH study, and patients were treated with a combination of diet, proton pump inhibitors, and alginates. The atypical symptoms or findings had to be resolved from pre- to posttreatment. Results: From 2017 to 2021, 21 patients with atypical LPR were treated in our center. The clinical presentation consisted of recurrent aphthosis or burning mouth (N = 9), recurrent burps and abdominal disorders (N = 2), posterior nasal obstruction (N = 2), recurrent acute suppurative otitis media (N = 2), severe vocal fold dysplasia (N = 2), and recurrent acute rhinopharyngitis (N = 1), tearing (N = 1), aspirations (N = 1), or tracheobronchitis (N = 1). Abnormal upper aerodigestive tract reflux events were identified in all of these patients. Atypical clinical findings resolved and did not recur after an adequate antireflux treatment. Conclusion: LPR may present with various clinical presentations, including mouth, eye, tracheobronchial, nasal, or laryngeal findings, which may all regress with adequate treatment. Future studies are needed to better specify the relationship between LPR and these atypical findings through analyses identifying gastroduodenal enzymes in the inflamed tissue.

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Case series on variable presentations of tuberculosis of the breast

BMJ Case Reports ◽

10.1136/bcr-2020-236019 ◽

2020 ◽

Vol 13 (12) ◽

pp. e236019

Author(s):

Tharun Ganapathy Chitrambalam ◽

Jeyakumar Sundaraj ◽

Pradeep Joshua Christopher ◽

Ramyasree Paladugu

Keyword(s):

Clinical Presentation ◽

Case Series ◽

Common Type ◽

Breast Abscess ◽

Breast Lump ◽

Clinical Presentations ◽

Malignant Lesions

Tuberculosis (TB) of the breast is extremely rare and is often mistaken for benign or malignant lesions of the breast. They are rare even in countries which are endemic for TB, like India. The most common type of clinical presentation is a vague lump in the breast, but there are even other types of presentations which are documented. In olden days, there was a lot of dilemma and challenge in diagnosing TB of the breast, but thanks to improved pathological knowledge and the advent of investigations such as QuantiFERON-TB gold and GeneXpert, TB can be diagnosed early nowadays and treated accordingly. In this study series, we report 10 cases of TB of the breast with variable clinical presentations as fibroadenosis, breast abscess, duct ectasia and breast lump on evaluation, and the challenges encountered in establishing the diagnosis.

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Clinical Presentation, Management, and Prognosis of Pseudogout in Joint Arthroplasty: A Retrospective Cohort Study

Journal of Bone and Joint Infection ◽

10.7150/jbji.29983 ◽

2019 ◽

Vol 4 (1) ◽

pp. 20-26 ◽

Cited By ~ 6

Author(s):

Merit P. George ◽

Floranne C. Ernste ◽

Aaron Tande ◽

Douglas Osmon ◽

Tad Mabry ◽

...

Keyword(s):

Clinical Presentation ◽

Medical Center ◽

Case Reports ◽

Joint Infection ◽

Case Series ◽

Calcium Pyrophosphate ◽

Degenerative Joint Disease ◽

Joint Disease ◽

Antibiotic Overuse ◽

Concomitant Infection

Abstract. Introduction: Calcium pyrophosphate deposition disease (CPPD), or pseudogout, is rare in prosthetic joints, but can mimic prosthetic joint infection (PJI) according to case reports. The purpose of this case series is to describe the demographics, presentation, management, and outcomes of a cohort of these patients seen at our academic medical center.Methods: Patients with post-implant pseudogout, who were evaluated at our medical center between January 1, 2000 and June 30, 2016, were identified from our EHR. Data pertaining to demographics, presentation, management, and outcomes were abstracted, and patients were categorized into two groups based on presence of concomitant infection along with positive CPDD findings in synovial fluid.Results: 22 patients were included. 90.9% of cases involved a TKA. The most common indication for arthroplasty was degenerative joint disease. Only four patients had a history of previous gout or pseudogout, three of which belonged to the group with no evidence of concomitant joint infection. Clinical features for patients without concomitant infection included pain (100%), swelling at the joint (88.9%), redness (33.3%), fever (22.2%), and decreased range of motion (100%). 45.5% of patients received antibiotics prior to joint aspiration (44.4% of patients with negative synovial fluid cultures, 46.2% of patients with concomitant infection).Conclusion: Our study suggests similar clinical presentation between post-implant pseudogout and PJI. Among patients with pseudogout as well as in those with PJI, the first dose of antibiotics should not be given before sampling for synovial culture. Unfortunately, many patients receive antibiotics prior to culture ascertainment, which raises concern for antibiotic overuse.

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Clinical presentation and management of acquired thrombotic thrombocytopenic purpura: A case series of 55 patients

Therapeutic Apheresis and Dialysis ◽

10.1111/1744-9987.13502 ◽

2020 ◽

Author(s):

Rui‐Xue Sun ◽

Jun Xu ◽

Hua‐Dong Zhu ◽

Xue‐Zhong Yu ◽

Jing Yang

Keyword(s):

Thrombotic Thrombocytopenic Purpura ◽

Clinical Presentation ◽

Case Series ◽

Thrombocytopenic Purpura

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Clinical and angioarchitectural characteristics of spinal vascular malformations of the cervical spine

Journal of Neurosurgery Spine ◽

10.3171/2019.11.spine19798 ◽

2020 ◽

Vol 32 (5) ◽

pp. 755-762 ◽

Cited By ~ 1

Author(s):

Waleed Brinjikji ◽

Elisa Colombo ◽

Giuseppe Lanzino

Keyword(s):

Cervical Spine ◽

Lower Extremity ◽

Clinical Presentation ◽

Vascular Malformations ◽

Case Series ◽

Acute Onset ◽

Lower Extremity Weakness ◽

Arteriovenous Fistulas ◽

Spinal Vascular Malformations ◽

Interventional Neuroradiologist

OBJECTIVEVascular malformations of the cervical spine are exceedingly rare. To date there have been no large case series describing the clinical presentation and angioarchitectural characteristics of cervical spine vascular malformations. The authors report their institutional case series on cervical spine vascular malformations diagnosed and treated at their institution.METHODSThe authors retrospectively reviewed all patients with spinal vascular malformations from their institution from January 2001 to December 2018. Patients with vascular malformations of the cervical spine were included. Lesions were characterized by their angioarchitectural characteristics by an interventional neuroradiologist and endovascular neurosurgeon. Data were collected on clinical presentation, imaging findings, treatment outcomes, and long-term follow-up. Descriptive statistics are reported.RESULTSOf a total of 213 patients with spinal vascular malformations, 27 (12.7%) had vascular malformations in the cervical spine. The mean patient age was 46.1 ± 21.9 years and 16 (59.3%) were male. The most common presentations were lower-extremity weakness (13 patients, 48.1%), tetraparesis (8 patients, 29.6%), and lower-extremity sensory dysfunction (7 patients, 25.9%). Nine patients (33.3%) presented with hemorrhage. Fifteen patients (55.6%) had modified Rankin Scale scores of 0–2 at the time of diagnosis. Regarding angioarchitectural characteristics, 8 patients (29.6%) had intramedullary arteriovenous malformations (AVMs), 5 (18.5%) had epidural arteriovenous fistulas (AVFs), 4 (14.8%) had paraspinal fistulas, 4 (14.8%) had mixed epidural/intradural fistulas, 3 (11.1%) had perimedullary AVMs, 2 (7.4%) had dural fistulas, and 1 patient (3.7%) had a perimedullary AVF.CONCLUSIONSThis retrospective study of 27 patients with cervical spine vascular malformations is the largest series to date on these lesions. The authors found substantial angioarchitectural heterogeneity with the most common types being intramedullary AVMs followed by epidural AVFs, paraspinal fistulas, and mixed intradural/extradural fistulas. Angioarchitecture dictated the clinical presentation as intradural shunts were more likely to present with hemorrhage and acute onset myelopathy, while dural and extradural shunts presented as either incidental lesions or gradually progressive congestive myelopathy.

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