Rare Case Series Research Articles

P166 Parotid benign lymphoepithelial cyst in connective tissue disease: a rare case series and literature review

Abstract Background/Aims Benign lymphoepithelial lesions are swellings of salivary glands caused by a reactive lymphoid infiltrate with follicular hyperplasia, obliterating the acinar glands and causing proliferation and disruption of the ductal epithelium. These have been described in HIV, lymphoma and Sjögren's syndrome. We report a case series with mixed connective tissue disease/Sjögren's syndrome and reviewed the literature with similar presentations in order to highlight this unusual manifestation. Methods Index patient: A 25-year-old lady presented with a history of arthralgia, fatigue and Raynaud's 3 years ago and was diagnosed by rheumatologist to have MCTD with ANA showing U1RNP, Ro positive and histones antibody positive. She was managed with mycophenolate and improved. A year ago she developed parotitis which improved with antibiotics. She recently came to the outpatient department with painful swelling in the parotid region. Blood counts remain normal, ESR 36 mm/hr , CRP 6 mg/dl, ACE level, HIV screening normal. MRI parotid showed bilateral multiple lymphoepitheial cysts in the parotid glands. Opinion was obtained from oncology and the ENT surgeon. No evidence of malignancy was found. In view of this, consensus opinion among rheumatologists was to stop mycophenolate and give 2gm rituximab. We also reviewed 10 cases of benign lymphoepithelial cyst arising in the parotid region in acquired immunodeficiency syndrome negative patients. Cases were from 8 published articles plus the three cases of benign lymphoepithelial cyst in a mixed connective tissue disease/Sjögren's syndrome in AIDS negative patients reported in Table 1. Most of the patients had been treated surgically, however, immune therapy is sufficient. Results: Conclusion Benign lymphoepitheial cysts have been described in patients with sarcoidosis, HIV, cancer and CTD. Our patients had features of MCTD with Sjögren's syndrome and manifested with benign lymphoepithelial cysts in the parotids, which is very unusual. Parotid swelling in connective tissue disease requires evaluation and multidisciplinary input. Benign lymphoepithelial cysts will not require any surgery; once malignancy is excluded, they will require modification of immune therapy. Disclosure N. Palaniappan: None. S. Nallasivan: None.

Subcutaneous Emphysema and Pneumomediastinum after Dentoalveolar Surgery. Why does this still happen? Case Series

Some complications are frequent in dentoalveolar surgery, such as pain, hemorrhage and infection. There are other very rare complications such as subcutaneous emphysema and pneumomediastinum, which can be caused by the use of high speed dental turbines with compressed air during the third molar extraction, or any other tooth. These can lead to other more serious complications, including mediastinitis, cardiac tamponade, obstruction of the respiratory tract, simple or tension pneumothorax, and pneumoperitoneum. Severe infections can also be caused by polluted air from the turbine and oral bacterias. This report describes a series of rare cases of subcutaneous emphysema and pneumomediastinum that happened after dentoalveolar surgery, where the high-speed handpiece with compressed air was used. Although there is no scientific evidence to indicate its use, in some Latin American countries it continues to be a common practice.

Mucormycosis of mandible – A rare case series

Mucormycosis is a rare fungal infection with high morbidity and mortality rate as compare to its prognosis which is poor. Coronavirus disease 2019 (COVID-19) infection may be associated with a wide range of bacterial and fungal co-infections. We report the case of a patient with COVID-19 infection, which, during the course of the treatment, developed rhino-orbital mucormycosis. Very few cases of mucormycosis of mandible have been reported in literature. In this article, we present three cases of mucormycosis affecting mandible and the surgical management for it given in our institute. Extraction of all mobile teeth was done along with mechaincal curettage and sequestrectomy performed.Patients are kept in regular follow up and referred to Prosthodontics department for rehabilitation.COVID-19 associated mucormycosis is aggressive and locally invasive, therefore early diagnosis and management is imperative to improve prognosis and help reduce morbidity. Mandible is not affected frequently by mucormycosis but is aggressive. Caution before attempting dental extraction which can worsen ongoing infection will ensure good outcomes, shorter hospital stay and better rehabilitation.

Incidence and clinical profile of Marcus Gunn jaw-winking phenomenon in congenital ptosis at a tertiary eye hospital in western Uttar Pradesh, India

Objectives: The objectives of this study were to report the hospital-based incidence and a rare case series of Marcus Gunn jaw-winking phenomenon (MGJWP) in patients with congenital ptosis Material and Methods: This was a retrospective non-interventional case series. The medical records of all patients diagnosed with MGJWP over the past 3.5 years were retrieved from the electronic medical record. Patients with documented evidence of the presence of ptosis with MGJWP were included and analyzed for visual acuity, the presence of squint and amblyopia, and the presence of other aberrant regenerations. Results: A total of 198 patients were diagnosed with congenital ptosis, out of which 23 (11.6%) patients had MGJWP along with congenital ptosis and 175 (84.4%) patients have congenital ptosis without MGJWP. There were 12 males and 11 females. The mean age at presentation was 10.35 ± 8.4 years (range from 2 to 28 years). All the patients presented unilateral MGJWP. The right eye was involved in seven patients (30.4%) and the left eye in 16 patients (69.5%). Most of the patients had observed the onset of MGJWP by parents since birth. Visual acuity was measured by Snellen’s distance acuity chart in 15 patients. Eight patients were preverbal, and their vision was assessed by the fixation pattern, which was central, steady, and maintained. Nine patients (39.1%) were emmetropic, seven patients (30.4%) had astigmatism, and seven patients were amblyopic in the affected eye. Strabismus was noted in nine patients (39.1%) in this study. Monocular elevation deficiency was noted in five patients, three patients have exotropia, and one had hypotropia. Conclusion: All the patients had a mild form of MGJWP with no intervention required in any of the cases. The hospital-based incidence of MGJWP in congenital ptosis is 11.6%. Most of the patients had observed the onset of MGJWP by their parents since birth.

A rare case series of bilateral pneumothorax among adult COVID-19 patients reported at a tertiary care hospital in Mizoram, India

Apart from routine symptoms such as fever, cough, sore throat, myalgia, and dyspnea in severe form of Coronavirus Disease-2019 (COVID-19) infection, very rarely patients can develop worsening of dyspnea due to bilateral pneumothorax. The present case series is about five adult patients, of age ranging from 39 to 57 years, who developed bilateral pneumothorax during their stay in the hospital. All the cases were reported between May 2021 and October 2021 and were tested positive for COVID-19 by reverse transcriptase polymerase chain reaction. Out of five adults, three patients were males and were two females. All the patients were assessed with quick sequential organ failure assessment (q SOFA) score on admission and then monitored by SOFA Score. On admission, baseline contrast enhanced computer tomography chest was done for three patients, and chest radiography for one patient all showing features of moderate to severe COVID-19 pneumoniae. One patient with q SOFA Score of 3 on admission required immediate invasive mechanical ventilatory support with ultrasonogram chest immediately performed showing bilateral pneumothorax. Patients were started on remdesivir, dexamethasone, low molecular weight heparin or unfractionated heparin, tocilizumab, and antibiotics. Subsequently, during the course of stay in the hospital, rest of the four patients developed symptoms of pneumothorax and emergency bedside chest ultrasonography showed the typical barcode or stratosphere sign confirming bilateral pneumothorax. All the patients were managed with bilateral chest intercostal water seal drainage intercostal drain tube and invasive mechanical ventilation. Fraction of Inspired Oxygen (FIO2), and other ventilatory settings were adjusted depending on daily arterial blood gas findings. Attempts to wean off from ventilatory support and extubation were successful for two patients, whereas three patients did not survive. In this case series, we will be presenting about those five cases of bilateral pneumothorax in COVID-19 patients reported at a tertiary care hospital in Mizoram, India.

Retrieval of broken instrument from maxillofacial surgical site - A rare case series

Retrieval of broken instrument from maxillofacial surgical site - A rare case series

Multiple myeloma with disseminated sclerotic lesions mimicking metastatic bone lesions; a rare case series

Background: Lesions characterized by myeloma are lytic lesions surrounded by sclerosis. Diffuse or wide-length sclerotic bone lesions associated with myeloma are infrequent. Case presentation: Two men, 70 and 72 years old, were referred from oncology to hematology for diffuse, large-length sclerotic bone lesions. Their findings were interpreted as having bone metastasis of primary cancer in orthopedics, internal medicine, and oncology due to diffuse sclerotic bone lesions found incidentally during the examinations performed for another reason. The probable causes (prostate, lung, and gastrointestinal cancer) of metastasis were investigated, and they were referred to hematology after a nearly 2-month examination period. Conclusion: The remarkable extensive sclerotic bone lesions may mask the myeloma and may not be considered in the differential diagnosis. However, these cases had the typical clinical findings and laboratory results of MM, except for bone disease. Therefore, we aimed to highlight this issue.

Management Outcome of an Open Intertrochanteric with Associated Neck of Femur Fracture: A Rare Case Series

Abstract Introduction: Intertrochanteric hip fractures are rare in young adults due to numerous soft tissue around the bone in the proximal femur. These fractures present a significant challenge for orthopedic surgeons in managing soft tissues, fracture reduction, fixation, and maximizing functional outcomes. Treatment of such injuries aims to prevent infection and achieve stable fixation and fracture union while reducing pain. Objective: This paper aims to present the series of open proximal femur fractures successfully managed with delayed intramedullary fixation, with a satisfactory functional and radiological outcome. Materials and Methods: Patients with an open proximal femoral fracture from Jan 2021 to Jan 2023 were evaluated retrospectively. Primary debridement was done at the earliest, and once the wound healed around 10–14 days later, definitive internal fixation by cephalo-medullary nailing was done. Patients were followed regularly at monthly intervals for 3 months, then every third month till the last follow-up at the end of 1 year to assess functional and radiological outcomes. Results: Three male patients with a mean age of 36 years with AO type 31A2.3 fracture were presented at a mean duration of 4 h, where primary debridement was done at a mean interval of 3.67 h from presentation, and the mean duration of definitive fixation was noted to be 12 days. Fracture union was noted at a mean interval of 26 weeks. There was no evidence of osteonecrosis of the femoral head after union. At the final follow-up, all patients had a VAS of 2/10 and a mean HHS of 82.6. Conclusion: In open intertrochanteric with the neck of femur fractures, delayed cephalomedullary fixation after aggressive primary debridement and after soft tissue recovery helps to decrease the risk of infection and provides the advantage of early mobilization and favorable functional and radiological outcomes.

Couvelaire uterus in a previable pregnancy: Complication in abruptio placenta, case series from Tanzanian tertiary hospital

Couvelaire uterus, also previously known as uteroplacental apoplexy. This is a life-threatening condition resulting from bleeding into the myometrium that may extend to the parametrium and peritoneum. Couvelaire uterus is typically associated with abruptio placentae, the premature separation of the placenta. This syndrome can only be diagnosed by direct visualization during caesarean section or biopsy (or both). For this reason, its prevalence is under-reported and underestimated in the literature. We present a rare case series of two patients with Couvelaire uterus in previable pregnancy at Aga Khan Hospital, Dar es salaam. This combination is a rare occurrence and there are no cases reported in sub-Saharan Africa to the best of our knowledge. Couvelaire uterus is a rare manifestation to find in a previable pregnancy. The incidence of Couvelaire uterus is difficult to estimate since the diagnosis can only be reached intra-operatively. In most cases it occurs with abruptio placentae which develops due to a disruption in the vessels within the placenta allowing for blood to seep into the decidua basalis leading to premature separation of the placenta and bleeding into the myometrium which may extend to the parametrium and peritoneum. Clinicians should be vigilant when dealing with vaginal bleeding in a pre-viable pregnancy and placental separation is considered as an important differential to avoid the maternal morbidity and mortality that may ensue.

Endoscopic Endonasal Surgery for Dermoid Cysts Arising From the Middle Cranial Fossa Floor: A Rare Case Series.

Dermoid cysts (DCs) are congenital, slowly growing, and may cause nervous system symptoms. Related literature is limited and mainly includes case reports. We report a case series of DCs originating from the middle cranial fossa floor (MCFF) and investigate their demographic information, clinical characteristics, imaging findings, surgical procedures, and prognostic outcomes. We reviewed the patients with DCs arising from the MCFF undergoing endoscopic endonasal surgery (EES) in our center between 2012 and 2022. A total of 5 patients with DCs were enrolled (2 males and 3 females), with a mean age of 46.2years at the onset. All DCs originated from the MCFF with 1 case involving the middle cranial fossa bone and another 1 case affecting the dura mater. One (20.0%) patient had neurological involvement. After admission, all patients received EES with a total resection rate of 100.0% (5 of 5). After a median follow-up of 73.2months, all patients achieved complete clinical and radiological improvements. No surgical-related complications or relapses were observed during the long-term follow-up. Endoscopic endonasal surgery is considered a safe and effective approach for the treatment of DCs in the MCFF. A larger sample size and longer follow-up time are needed.

Mucosal associated Lymphoid Tissue Lymphoma of the uvea: an analysis of 3 cases

BackgroundOcular mucosa-associated lymphoid tissue (MALT) lymphoma involving orbit and conjunctiva usually has an indolent clinical course with “salmon patch” mass as typical presentation. This study is to report a series of rare cases and investigate the clinical and pathological features of ocular MALT lymphoma that involved uveal tissue primarily and presented as posterior scleritis.MethodsThis retrospective, observational study was conducted at Beijing Tongren Hospital. From 2018 to 2020, 3 cases of 3 eyes (2 female patients and 1 male patient) with ocular MALT lymphoma that involved uveal tissue primarily and presented as posterior scleritis were included in the study. All patients had complaints of red eyes with blurred vision. The average age was 56.33 ± 2.08 years old and the average time from initial diagnosis to pathological diagnosis was 3.00 ± 1.73 months. Ophthalmic examinations including best-corrected visual acuity (BCVA), intraocular pressure (IOP), slit lamp microscope examinations, fundus photography, B-scan ultrasonography, ultrasound biomicroscope (UBM), optical coherence tomography (OCT), fundus fluorescein angiography (FFA) and indocyanine green angiography (ICGA) were conducted. Systemic workups including orbital magnetic resonance imaging (MRI), positron emission tomography-computed tomography (PET-CT) and blood autoimmune antibody tests were also conducted. Pathological tissue from patients were obtained through surgeries. Biopsy examinations were performed to accurately determine pathological diagnosis. All the information of clinical, imaging and pathological changes were collected and analyzed.ResultsAt the initial diagnosis, the BCVA of involved eyes decreased seriously while the IOP were normal. All involved eyeball showed extensive hyperemia and local thickening in the wall of eyeballs. B-scan ultrasonography showed mass with abundant blood and irregular cysts inside the eyeball wall and in the retrobulbar orbit, surrounding the ocular wall and optic nerve. UBM showed solid lesions with low and medium echo under the conjunctiva and inside the ciliary body of 2 cases. OCT showed posterior polar wavy rise of RPE and local neuroepithelial detachment in all cases. FFA and ICGA showed vascular abnormalities (patch-like strong fluorescence and fluorescence leakage) and local thickening in retina and choroid (Rectangle-like weak fluorescence below the macula). The posterior wall of the eyeball was thickened and enhanced in MRI. PET-CT also showed thickening of posterior wall of eyeballs and increased metabolic activity but there was no sign of autoimmune disease. All patients were diagnosed as MALT lymphoma through pathologic examinations of biopsy tissue.ConclusionsThe onset of primary ocular MALT lymphoma in uvea is hidden. The early clinical manifestations are lack of specificity and misleading. B-scan ultrasonography has characteristic manifestations and is valuable in diagnosis. However, pathological diagnosis through tissue biopsy is irreplaceable.

Zinner’s syndrome: Triad of seminal vesicle cyst, ejaculatory duct obstruction and ipsilateral renal agenesis: A rare case series

Zinner’s syndrome is a very rare congenital condition characterised by seminal vesicle cyst, obstruction of the ejaculatory duct and ipsilateral renal agenesis. Here, we present a 25-year- old young short-statured male presented with left lower abdominal colicky pain. MRI abdomen showed the absence of the left kidney with a seminal vesicle cyst on the left side. The cyst in question was laparoscopically de-roofed. A second case is a 16-years-old young male who presented with intermittent lower abdominal pain. MRI abdomen showed seminal vesicle cyst with ipsilateral absent kidney which is managed conservatively with medication. Level of evidence: Not applicable

Four Different Reasons of Subcutaneous Emphysema With or Without Pneumomediastinum and Pneumothorax After Facial Bone Surgery.

In the present study, the authors report rare case series with subcutaneous emphysema with or without pneumomediastinum and pneumothorax after orthognathic and facial bone contouring surgery, compare their clinical and radiologic findings, and suggest precautions. Four patients who showed subcutaneous emphysema on follow up chest X-ray and computed tomography after orthognathic and facial bone contouring surgery were included in the study. In all cases post-op subcutaneous emphysema were detected, however, the aspect and mechanisms of post-op air spread were all different. After the conservative management with administering the O 2 by nasal cannula or endotracheal tube, the symptoms were relieved except 1 patient who needed chest tube insertion and further supra-sternal incision. In conclusion, subcutaneous emphysema with or without pneumomediastinum and pneumothorax after orthognathic and facial bone contouring surgery can be occurred by cervical fascia injury or alveolar ruptures. To preventing those complications, traumatic naso-tracheal intubation, excessive positive pressure ventilation, intermaxillary fixation immediate after the surgery, and increase of intra-alveolar pressure of the patients should be avoided.

A Rare Case Series of Vaginal Melanoma- experience of National Cancer Institute Sri Lanka

Vaginal melanomas are extremely rare gynaecological malignancy with aggressive behavior resulting in poor outcome. The aetiology is not well understood so far. There is no standardized treatment owing to the extreme rarity of the disease, however surgical excision with adjuvant radiotherapy has been the widely practiced treatment. The role of lymphadenectomy is controversial. The six cases reported between November 2015 to November 2021 at the National cancer institute Sri Lanka were treated primarily by surgical excision including hysterocolpectomy, colpectomy, and wide local excision. Pelvic lymphadenectomy was not done in most cases. Only one patient has received adjuvant radiotherapy. Only one patient died during the follow-up and 2 had recurrences.

Hidden in the Eyes-Recurrence of Systemic Hemopathies Reportedly "In Remission": Six Cases and Review of Literature.

Background and Objectives: Secondary ocular localizations of hematological malignancies are blinding conditions with a poor prognosis, and often result in a delay in the diagnosis. Materials and Methods: We describe a series of rare cases of ocular involvement in six patients with hematological malignancies, reportedly in remission, who presented secondary ocular localizations, challenging to diagnose. Two patients had an acute lymphoblastic leukemia (ALL) and developed either a posterior scleritis or a pseudo-panuveitis with ciliary process infiltration. One patient had iris plasmacytoma and developed an anterior uveitis as a secondary presentation. Two patients had a current systemic diffuse large B-cell lymphoma (DLBCL) and were referred either for intermediate uveitis or for papilledema and vitritis with secondary retinitis. Finally, one patient with an acute myeloid leukemia (AML) presented a conjunctival localization of a myeloid sarcoma. We herein summarize the current knowledge of ophthalmologic manifestations of extramedullary hematopathies. Results: Inflammatory signs were associated with symptomatic infiltrative lesions well displayed in either the iris, the retina, the choroid, or the cavernous sinus, from the admission of the patients in the ophthalmological department. These findings suggest that patients with ALL, AML, systemic DLBCL, and myeloma can present with ophthalmic involvement, even after having been reported as in remission following an effective systemic treatment and/or allograft. Conclusions: Early detection of hidden recurrence in the eyes may permit effective treatment. Furthermore, oncologists and ophthalmologists should be aware of those rare ocular malignant locations when monitoring patient’s progression after initial treatment, and close ophthalmologic examinations should be recommended when detecting patient’s ocular symptoms after treatment.

Hair shaft disorders: a rare case series

<p class="abstract">The hair shaft is composed of multiple layers, which include the medulla, cortex and cuticle. Genetic disorders, diseases or environmental factors can lead to changes in the properties of these structures, resulting in fragility or alterations in hair shaft texture, appearance or manageability giving rise to various hair shaft disorders. Depending on the fragility of the hair the hair shaft disorders are divided into those with increased fragility and those without increased fragility. A clear detailed history and accompanying microscopic, trichoscopic evaluation help in establishing a diagnosis. In this case series we presented a series of seven hair disorders which included pili torti, trichorehexis nodosa, monelithrix, plica palonica, white piedra, trichoptilosis and Tay’s syndrome. Most of the hair shaft disorders have underlying metabolic disorders or genetic disorders that are left unnoticed and are commonly treated as alopecias which do not improve on treatment. Thereby creating a need of diagnosing these conditions appropriately. The treatment of hair shaft disorders depends on treating the underlying cause. In addition patients must be advised to reduce the traumatic effects on the hair like ironing, chemical treatments, curling.</p>

Twisted tressess: a rare case series of familial woolly hair

Woolly hair is an uncommon congenital anomaly of the scalp hair presenting with strongly coiled hair involving a localized area of the scalp or covering the entire side and occurring in non-black people. Among the syndromes presenting with woolly hair, the most known are the Naxos syndrome, the Carvajal-Huerta syndrome, the woolly hair/hypotrichosis, the ectodermal dysplasia-skin fragility and the tricho-hepato-enteric syndrome. Case characteristics: herein, we report a case of autosomal recessive familial woolly hair of an Asian female child and member of a family, her younger brother affected by a localised woolly hair, not associated to complications. Children with woolly hair must be examined completely and monitored regularly to rule out cardiofaciocutaneous and Noonan syndrome.

Rare case series of congenital adrenal insufficiency in two brothers with NROB1 mutation, presenting with dichotomous pubertal presentation

Congenital Adrenal Hypoplasia (AHC) first described in 1948, characterized by adrenal insufficiency, and hypo-gonadotropic hypogonadism. X linked AHC mainly affects males, it occur mainly due to mutation in NR0B1 gene. In this report, we present two cases of NR0B1 mutation from same family with dichotomous pubertal presentation. An infant diagnosed and being managed as case of adrenal insufficiency, developed precocious puberty at the age of 11 months. His work-up showed increased LH, FSH and Testosterone. Genetic Analysis revealed NR0B1 mutation. He was managed with Gn RH agonist and steroid replacement. His brother 15 years old, treated as primary adrenal insufficiency, presented with arrested puberty, his genetic analysis also showed NR0B1 mutation. Keywords: AHC; adrenal hypoplasia; precocious puberty; hypogonadotropic; hypogonadism.

Parastyle in Primary Molars: A Rare Case Series

Parastyle in Primary Molars: A Rare Case Series

Conservative Management of Traumatic Intercostal Lung Hernia: A Case Report

Pulmonary herniation is an uncommon phenomenon. It has been described sporadically in obscure case reports and rare case series. Owing to its sparse occurrence, a calibrated algorithm for its management does not exist. Even then, the popular consensus advises surgical management comprising prosthetic mesh repair. Hereby, authors report a case of a 24-year-old male, who developed left lung herniation after blunt trauma to the chest wall. Non Contrast Computed Tomography (NCCT) of chest revealed herniation of left lung through 3rd intercostal space, a hernia defect of 1.8 cm and a small left pneumothorax. Patient was managed conservatively with intercostal drainage and was discharged on day 5 of admission. This case report aims to delineate the conditions where conservative management of lung hernias can be undertaken successfully.