A.05 An epidemiologic study of SLC52A2-related Riboflavin Transport Deficiency

Background: Riboflavin transporter deficiency (RTD), formerly known as Brown-Vialetto-van Laere syndrome, is an early-onset neurodegenerative disorder with distinctive phenotypes. RTD is caused by mutations in either the SLC52A2 or SLC52A3 genes that encode riboflavin transporters RFVT-2 and RFVT-3, respectively. Methods: This was a 3-year retrospective case review from the Cure RTD International Registry. Results: 73 individuals (~60% female, 14 deceased) from 56 families had genetically confirmed RTD Type 2, including 30 novel SLC52A2 mutations (24 missense, 2 nonsense, 4 deletion). The mean ages at symptom onset and at diagnosis were 2.4 years (SD 1.5, range 0.25–8, n=63) and 12.0 years (SD 10.2, range 0.75–52, n=56) respectively. Most common presenting symptoms were sensory ataxia (n=43), sensorineural hearing loss (n=22), nystagmus/visual loss secondary to optic atrophy (n=14), upper limb weakness (n=11), and respiratory insufficiency (n=9). Treatment included high dose riboflavin, other supplements, and supportive care; 7 individuals required transfusions for anemia pre-riboflavin treatment and 17 (25%) received a cochlear implant. The minimum prevalence of RTD was estimated to be 1 per million, with >100 new cases each year. Conclusions: This is the largest case series of RTD to date. Early recognition and prompt riboflavin treatment is essential for survival and optimal outcome.

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Beware of the Migrating Chest Pain and Widened Mediastinum: Case Series on Aortic Dissection

Hong Kong Journal of Emergency Medicine ◽

10.1177/102490790200900206 ◽

2002 ◽

Vol 9 (2) ◽

pp. 95-101

Author(s):

CH Chung ◽

KK Lai

Keyword(s):

Pericardial Effusion ◽

Aortic Dissection ◽

Case Series ◽

District General Hospital ◽

X Rays ◽

Case Review ◽

Retrospective Case ◽

Superior Mediastinum ◽

Presenting Symptoms ◽

Life Threatening

Objective Aortic dissection is not a rare life-threatening emergency. Undiagnosed and untreated aortic dissection is associated with a high mortality. A review of cases in the hospital may provide a baseline picture to guide clinical decisions. Design Retrospective case review for a period of 3 years and 4 months. Setting District general hospital near the Hong Kong – Shenzhen ‘border’ with 24-hour Accident & Emergency service but without cardiothoracic surgical capability. Population All cases coded as ‘aortic dissection’ in the computerized ‘Clinical Management System’ of the hospital. Main outcome measures Date, sex, age, history of hypertension, presenting symptoms, pulse deficit, chest X-ray findings, pericardial effusion, A&E diagnosis, type of dissection and patient outcome. Results From August 1998 to November 2001, 26 cases of aortic dissection were identified. There were 19 males and 7 females. Age range was 26 to 90 years (mean 65.04 ± SD 15.04, median 66.50, mode 65). In the plain chest X-rays, widened superior mediastinum (>8 cm) was present in 19 patients (73.1%) and pleural effusion in three (11.5%). Pericardial effusion was found in six patients (23.1%). As regard to outcome, 11 were discharged home (42.3%), 14 were transferred to cardiothoracic surgical unit (where two subsequently died) and one died in the hospital. Conclusion The prevalence of aortic dissection may be more common than is generally appreciated by emergency physicians. Owing to its variable clinical presentations mimicking other diseases, the diagnosis of aortic dissection is easily missed. Higher clinical vigilance should be exercised for this potentially deadly condition.

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NCMP-07. SECONDARY ADRENAL INSUFFICIENCY IN ADULT PATIENTS WITH GLIOMA: A CASE SERIES

Neuro-Oncology ◽

10.1093/neuonc/noz175.753 ◽

2019 ◽

Vol 21 (Supplement_6) ◽

pp. vi180-vi180 ◽

Cited By ~ 1

Author(s):

Emmanuel Mantilla ◽

Jessica Abramowitz ◽

Tu Dan ◽

Edward Pan

Keyword(s):

Risk Factors ◽

Adrenal Insufficiency ◽

Case Series ◽

Current Treatment ◽

High Dose ◽

Case Review ◽

Secondary Adrenal Insufficiency ◽

Duration Of Treatment ◽

Retrospective Case ◽

Who Grade

Abstract Glucocorticoids (GC) are a mainstay in the treatment of gliomas to reduce cerebral edema and improving symptoms related to swelling. Prolonged GC use can lead to adrenal insufficiency (AI) due to the suppression of the hypothalamic-pituitary-adrenal axis. AI is challenging to diagnose as the tumor itself or the chemotherapy are blamed for the symptoms. This study aims to evaluate the risk factors predisposing patients with gliomas to develop AI during their treatment course. METHODS This is a retrospective case review. Charts in the neuro-oncology clinic from July 2018 to March 2018 were reviewed. Inclusion criteria include > 18 y/o, diagnosis of glioma WHO Grade II to IV, and diagnosis of secondary AI. Demographic profile, tumor characteristics, radiation dose, exposure or proximity to HPA, current treatment, and dexamethasone dose and duration of treatment were tabulated and compared. RESULTS Nine of ten patients were started on high dose of dexamethasone (> 8mg daily), and only one was started on a lower dose (< 4mg daily). Majority of the patients (50%) were on dexamethasone for less than a year (4–8 months), and a significant portion (40%) of the patients remained on dexamethasone for > 2 years, with one patient on steroids for 64 months. The minimum dose of dexamethasone needed to prevent symptoms ranged from 0.5mg to 2mg daily. Most received 60Gy of radiation, two received 59.4 Gy, and one received 54 Gy. Six patients had radiation exposure to the HP axis, while four didn’t. CONCLUSION Secondary adrenal insufficiency results from prolonged glucocorticoid use in patients with glioma. Dose and duration of GC are risk factors to its development. Radiation to the HPA axis may be a contributing factor to the development of AI in patients with glioma, although it can also be seen in patients with radiation distant from the HPA.

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ETMR-08. INTERNATIONAL CONSENSUS PROTOCOL FOR EMBRYONAL TUMOR WITH MULTILAYER ROSETTES

Neuro-Oncology ◽

10.1093/neuonc/noaa222.212 ◽

2020 ◽

Vol 22 (Supplement_3) ◽

pp. iii324-iii324

Author(s):

Derek Hanson ◽

Nicolas Andre ◽

Susan Chi ◽

Mariella Filbin ◽

Michael Fisher ◽

...

Keyword(s):

Induction Chemotherapy ◽

Clinical Investigation ◽

Case Series ◽

High Dose ◽

Consensus Protocol ◽

Retrospective Case ◽

International Consensus ◽

Small Series ◽

Dismal Prognosis ◽

Biological Studies

Abstract Embryonal tumors with multilayer rosettes (ETMR) are rare and highly-aggressive central nervous system (CNS) neoplasms which occur primarily in young children and carry a dismal prognosis. To date, no large clinical investigations have been conducted to determine the optimal therapy for ETMR. Data from retrospective case series suggest that our most aggressive standard therapies are not sufficient for cure in the majority of cases. New treatment approaches incorporating pre-clinical data and the known biology of ETMR are therefore urgently needed. A German drug screen using the patient-derived ETMR BT183 cell line and its xenograft revealed anti-tumor activity of topotecan, doxorubicin, and actinomycin D; three agents used infrequently for treating infant CNS tumors. Additional results from a small series of ETMR patients suggest that optimization of induction chemotherapy using these active agents may improve response and survival outcomes. In 2019, an international panel of pediatric neuro-oncology experts convened to advance therapy for ETMR. A consensus protocol was developed incorporating maximal safe surgical resection, induction chemotherapy with active pre-clinical agents, intrathecal chemotherapy, radiotherapy, and high-dose chemotherapy. This international consensus protocol represents the first prospective clinical investigation specific to ETMR and will be available through a treatment registry globally and as a clinical trial at select centers. The study aims to improve survival by providing aggressive, optimized therapy for ETMR and will serve as a platform to explore new biologically-promising agents. The investigation will also provide valuable prospective outcome data and correlative biological studies to serve as baseline comparators for future clinical trials.

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The Medially-Invasive Cholesteatoma: An Aggressive Subtype of a Common Pathology

Annals of Otology Rhinology & Laryngology ◽

10.1177/0003489420937731 ◽

2020 ◽

Vol 130 (1) ◽

pp. 38-46

Author(s):

Geoffrey Casazza ◽

Matthew L. Carlson ◽

Clough Shelton ◽

Richard K. Gurgel

Keyword(s):

Skull Base ◽

Tertiary Care ◽

Case Series ◽

Hearing Preservation ◽

Csf Leak ◽

Petrous Apex ◽

Otic Capsule ◽

Retrospective Case ◽

Presenting Symptoms ◽

Subtotal Petrosectomy

Objective: Describe the outcomes of treatment for patients with cholesteatomas that are medially invasive to the otic capsule, petrous apex, and/or skull base. Study Design: Retrospective case series Setting: Two tertiary care academic centers. Patients: Patients surgically managed for medially-invasive cholesteatoma at two tertiary care institutions from 2001 to 2017. Interventions: Surgical management of medially-invasive cholesteatomas. Main Outcome Measures: The presenting symptoms, imaging, pre- and post-operative clinical course, and complications were reviewed. Results: Seven patients were identified. All patients had pre-operative radiographic evidence of invasive cholesteatoma with erosion into the otic capsule beyond just a lateral semicircular canal fistula. Five patients had a complex otologic history with multiple surgeries for recurrent cholesteatoma including three with prior canal wall down mastoidectomy surgeries. Average age at the time of surgery was 41.3 years (range 20-83). Two patients underwent a hearing preservation approach to the skull base while all others underwent a surgical approach based on the extent of the lesion. Facial nerve function was maintained at the pre-operative level in all but one patient. No patient developed cholesteatoma recurrence. Conclusions: The medially-invasive cholesteatoma demonstrates an aggressive, endophytic growth pattern, invading into the otic capsule or through the perilabyrinthine air cells to the petrous apex. Surgical resection remains the best treatment option for medially-invasive cholesteatoma. When CSF leak is a concern, a subtotal petrosectomy with closure of the ear is often necessary.

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Tracheo-bronchial foreign bodies: our experience at a tertiary care hospital

International Journal of Otorhinolaryngology and Head and Neck Surgery ◽

10.18203/issn.2454-5929.ijohns20161848 ◽

2016 ◽

Author(s):

Shashidhar S. Suligavi ◽

Mallikarjun N. Patil ◽

S. S. Doddamani ◽

Chandrashekarayya S. Hiremath ◽

Afshan Fathima

Keyword(s):

Foreign Body ◽

Early Diagnosis ◽

Foreign Bodies ◽

Tertiary Care ◽

Case Series ◽

Team Work ◽

Care Hospital ◽

Retrospective Case ◽

Presenting Symptoms ◽

Case Series Study

Background:Tracheo- bronchial foreign bodies have always posed a challenge to the ENT surgeon as they present with varied symptomatology ranging from a simple cough and fever to more grave respiratory distress. It requires a strong suspicion, early diagnosis and timely intervention to reduce the overall morbidity and mortality .This study was undertaken to highlight our experiences in handling cases of tracheo- bronchial foreign bodies (FB) at our setup.Methods:It is a retrospective case series study conducted in S. Nijalingappa Medical College between January 2011 and January 2015. Results:Most commonly affected were children between 1year to 3years of age. Chronic cough and wheeze were the commonest presenting symptoms. Vegetative foreign body was found to be the commonest variety of foreign body. The mortality rate in our study was 4.7% (n=3).Conclusions:A good clinical acumen, team work, early diagnosis and timely intervention are all needed to reduce the overall mortality and morbidity associated with tracheo- bronchial foreign bodies.

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Correlation of Preoperative Radiographic Severity With Disability and Symptom Severity in Hallux Valgus

Foot & Ankle International ◽

10.1177/1071100719845002 ◽

2019 ◽

Vol 40 (8) ◽

pp. 923-928

Author(s):

Michael Matthews ◽

Erin Klein ◽

Alyse Acciani ◽

Matthew Sorensen ◽

Lowell Weil ◽

...

Keyword(s):

Hallux Valgus ◽

Case Series ◽

Insurance Companies ◽

Retrospective Case ◽

Level Of Evidence ◽

Radiographic Severity ◽

Presenting Symptoms ◽

Radiographic Measurements ◽

Patient Reported ◽

Symptom Level

Background: Some US insurance companies have recently started to require minimum angular measurements, for coverage decisions, in patients seeking operative correction for symptomatic hallux valgus. This logic naturally assumes that the magnitude of radiographic bunion deformity is related to the magnitude of patient’s presenting symptoms and/or disability. Methods: We conducted an analysis of existing data in our practice to determine whether patient-reported symptoms and disability prior to bunion surgery correlated with preoperative radiographic measurements commonly used to quantify hallux valgus severity. Symptoms and disability level were determined using patient-reported preoperative Foot and Ankle Outcome Score (FAOS), a validated instrument commonly used in hallux valgus assessment. Spearman correlation coefficient was then used to quantify the strength of any correlations. Preoperative data from 107 patients (107 feet) with mean age of 49.3 ± 13.8 years who underwent isolated osseous hallux valgus surgery within our practice between June 1, 2016, and July 30, 2018, were available. Results: No radiographic variable achieved even a moderate correlation with any of the FAOS subscales with the exception of tibial sesamoid position with FAOS Pain (rho=0.402, P = .01) in patients aged 56 years and older. The direction of this correlation was positive, indicating that greater preoperative sesamoid abnormalities were paradoxically associated with less presenting pain (ie, higher FAOS Pain scores). Conclusion: It would appear that radiographic severity of bunion deformity is not well correlated with symptom level and/or disability and, we would argue, should not play a role in coverage decisions for patients presenting for hallux valgus surgery. Level of Evidence: Level IV, retrospective case series.

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Ewing’s Sarcoma of the Hand

Journal of Hand Surgery (European Volume) ◽

10.1177/1753193408094922 ◽

2008 ◽

Vol 34 (1) ◽

pp. 35-39 ◽

Cited By ~ 6

Author(s):

O. A. ANAKWENZE ◽

W. L. PARKER ◽

L. E. WOLD ◽

K. K AMRAMI ◽

P. C. AMADIO

Keyword(s):

Radiation Therapy ◽

Ewing’S Sarcoma ◽

Ewing's Sarcoma ◽

Case Series ◽

Surgical Excision ◽

Case Review ◽

Retrospective Case ◽

Postoperative Radiation Therapy ◽

Definitive Surgery

A retrospective case review was carried out to report the outcomes in a contemporary case series of Ewing’s sarcoma originating in the hand. We identified five patients treated since 1995. All five had wide surgical excision, one by ray amputation. All were treated with chemotherapy. Four patients also received radiation therapy, two to treat metastases and two as an adjunct to local excision. There were no local recurrences. Two patients developed metastases. Both died of their disease. Neither of these two patients had received local postoperative radiation therapy; one did not receive chemotherapy before definitive surgery. The other three patients were alive and free of disease at last follow-up, 4 to 12 years after initial presentation.

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Magnetic resonance imaging of traumatic injury to the craniovertebral junction: a case-based review

Neurosurgical FOCUS ◽

10.3171/2015.1.focus14785 ◽

2015 ◽

Vol 38 (4) ◽

pp. E3 ◽

Cited By ~ 11

Author(s):

Anil K. Roy ◽

_ _ ◽

Brandon A. Miller ◽

Christopher M. Holland ◽

Arthur J. Fountain ◽

...

Keyword(s):

Clinical Judgment ◽

Clinical Decision Making ◽

Spinal Column ◽

Case Series ◽

Craniovertebral Junction ◽

Significant Heterogeneity ◽

Case Review ◽

Ligamentous Injury ◽

Mri Findings ◽

Retrospective Case

OBJECT The craniovertebral junction (CVJ) is unique in the spinal column regarding the degree of multiplanar mobility allowed by its bony articulations. A network of ligamentous attachments provides stability to this junction. Although ligamentous injury can be inferred on CT scans through the utilization of craniometric measurements, the disruption of these ligaments can only be visualized directly with MRI. Here, the authors review the current literature on MRI evaluation of the CVJ following trauma and present several illustrative cases to highlight the utility and limitations of craniometric measures in the context of ligamentous injury at the CVJ. METHODS A retrospective case review was conducted to identify patients with cervical spine trauma who underwent cervical MRI and subsequently required occipitocervical or atlantoaxial fusion. Craniometric measurements were performed on the CT images in these cases. An extensive PubMed/MEDLINE literature search was conducted to identify publications regarding the use of MRI in the evaluation of patients with CVJ trauma. RESULTS The authors identified 8 cases in which cervical MRI was performed prior to operative stabilization of the CVJ. Craniometric measures did not reliably rule out ligamentous injury, and there was significant heterogeneity in the reliability of different craniometric measurements. A review of the literature revealed several case series and descriptive studies addressing MRI in CVJ trauma. Three papers reported the inadequacy of the historical Traynelis system for identifying atlantooccipital dislocation and presented 3 alternative classification schemes with emphasis on MRI findings. CONCLUSIONS Recognition of ligamentous instability at the CVJ is critical in directing clinical decision making regarding surgical stabilization. Craniometric measures appear unreliable, and CT alone is unable to provide direct visualization of ligamentous injury. Therefore, while the decision to obtain MR images in CVJ trauma is largely based on clinical judgment with craniometric measures used as an adjunct, a high degree of suspicion is warranted in the care of these patients as a missed ligamentous injury can have devastating consequences.

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Central serous chorioretinopathy associated with high-dose follistatin-344: a retrospective case series

International Ophthalmology ◽

10.1007/s10792-020-01501-6 ◽

2020 ◽

Vol 40 (11) ◽

pp. 3155-3161

Author(s):

Umut Dağ ◽

Mehtap Çağlayan ◽

Hasan Öncül ◽

Mehmet Fuat Alakuş

Keyword(s):

Central Serous Chorioretinopathy ◽

Case Series ◽

High Dose ◽

Retrospective Case ◽

Retrospective Case Series

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Laryngeal Web in the Pediatric Population: Evaluation and Management

Otolaryngology ◽

10.1177/0194599819893985 ◽

2019 ◽

Vol 162 (2) ◽

pp. 234-240 ◽

Cited By ~ 1

Author(s):

Claire M. Lawlor ◽

Natasha D. Dombrowski ◽

Roger C. Nuss ◽

Reza Rahbar ◽

Sukgi S. Choi

Keyword(s):

Pediatric Population ◽

Care Center ◽

Tertiary Care ◽

Case Series ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

Retrospective Case ◽

Presenting Symptoms ◽

Subglottic Extension ◽

Type 3

Objective To discuss the presentation, evaluation, and management of pediatric laryngeal web. Study Design Retrospective case series. Setting Single tertiary care center. Subjects All patients with laryngeal web at Boston Children’s Hospital in the past 22 years. Methods No exclusion criteria. Charts mined for age at presentation, presenting symptoms, degree/location of web, associated syndromes, number/type of surgical procedures, and postoperative outcomes. Results Thirty-seven patients were included (13 male, 24 female). Average age at diagnosis was 3.7 years (0-19.5 years). Mean follow-up was 4.4 years (range, 0-16.4 years). There were 26 congenital webs (70.2%) and 11 acquired webs (29.8%). Presenting symptoms were vocal (29 patients, 78.4%) and respiratory (22 patients, 60%). Underlying syndromes or synchronous airway lesions included the following: premature (n = 5), congenital heart disease (n = 18), subglottic stenosis (n = 5), 22q11.2 deletion syndrome (n = 10), and recurrent respiratory papillomatosis (n = 4). There were 20 type 1 webs, 6 type 2 webs, 8 type 3 webs, and 3 type 4 webs; 10 had subglottic extension of the laryngeal web. Twelve patients were managed conservatively with observation. Eighty-four interventions were performed: 18 open and 66 endoscopic (sharp division, 32; dilation, 33; mitomycin C, 14; laser, 5; keel, 6; triamcinolone injection, 8; stent, 15; removal of granulation tissue, 5). Tracheotomy was required in 11 patients, and 5 patients were decannulated. Voice improved in 12 patients, with respiratory symptoms in 12 patients. Web recurred in 17 patients. One patient died due to airway complications. Conclusions Pediatric laryngeal web is an uncommon but challenging lesion. Patients need to be evaluated for comorbid syndromes and synchronous airway lesions. Management includes open and endoscopic procedures. Procedures should be tailored to the child’s presentation.

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