Rare Presentation Research Articles

Paraneoplastic opsoclonus-myoclonus syndrome as a rare presentation of parotid adenocarcinoma

Paraneoplastic Opsoclonus-Myoclonus Ataxia Syndrome (POMA) is a rare neurological condition that affects approximately 1 in 10,000,000 people annually. This syndrome is poorly understood and can lead to long-term cognitive, behavioral, and motor complications. Opsoclonus is characterized by involuntary, rapid, repetitive, multi-vectorial oscillations of the eyes occurring in all directions of gaze. It is accompanied by diffuse or focal body myoclonus and may or may not include ataxia and other cerebellar signs. POMA is typically a paraneoplastic syndrome associated with neuroblastoma in childhood and breast carcinoma or small-cell lung carcinoma in adults. Additionally, viral or toxic agents are known to play a role in its etiology, and the immune system is involved in the pathogenesis. We report a case of a 41-year-old man with anti-Ri antibody opsoclonus-myoclonus syndrome and parotid adenocarcinoma involvement. After diagnosing opsoclonus-myoclonus syndrome, the patient underwent multimodal immunotherapy treatment, resulting in partial remission of the neurological symptoms.

Myxoedema coma secondary to severe hypothyroidis

Introduction: Myxoedema is a medical emergency associated with a highmortality rate. It is a rare presentation of severe hypothyroidism andsalient features usually seen include Decreased Mental Status,Hypothermia. Other features like Bradycardia, hypotension, hypoglycaemia,hypoventilation, signs of cognitive impairment like confusion, agitation,disorientation, and even psychotic features could be seen.Precipitants like alcohol, sedative drugs, MI, sepsis, exposure to cold mayalso result in severe hypothyroidism; hence effort should be made toreverse precipitating factors rapidly.The incidence of Myxoedema Coma is very low in developed countriesas there is improved diagnosis and treatment; early, aggressive treatmentis necessary due to the high mortality rate (30–60%). Groups of patientsat risk include elderly patients, those with a compromise cardiovascularsystem, reduced consciousness, sepsis etc. usually have a poorer outcome.Mainstay of treatment is thyroid hormone therapy, supportive-reversalof precipitating factors. Adrenal insufficiency should be excluded; glucocorticoidsare given to the patient.Case report-discussion & results: I present an 89-year-old woman who presentedwith Back Pain, Confusion following opioid medications prescribedby the GP. However on admission, there was hypothermia,hypotension with cold peripheries, pedal discolouration and ulceration,pitting oedema. The patient was initially managed for pneumonia, acutekidney injury secondary to poor intake. Patient was rehydrated andplaced on antibiotics. ECG, Transthoracic Echocardiography, ChestX-Ray, Blood tests, Brain CT showed nil tumour or acute changes. CTTAP showed nil malignancy or bony changes.Few days following admission to the ward, patient tested positivefor COVID and was isolated. Following COVID Stepdown, the patientdeveloped altered sensorium, hypotension, and seizures. Lactate washigh, EEG showed nil evidence of encephalitis. A confusion screen whichincluded Thyroid Function Test (TFT) was requested. The lab called ina few hours later due to a very high level of TSH (63) and low T4 (5.1)and Levothyroxine was commenced. Referral was made to the endocrinologist.Gentle rewarming using blankets with the room heater at roomtemperature was done and the patient was also placed on antibiotics.Relatives were updated as events evolved, and diagnosis changed withtime. Repeat TFT showed that the TSH level increased and there was clinicalworsening of the patient’s mental state. A diagnosis of Myxoedemacoma was made.Conclusion: A low threshold for requesting investigations like TFT, especiallyin at-risk patients and a high index of suspicion is required clinically.Could Covid have contributed to the precipitating factors? Areferral was made to the Palliative Care Team. There was good multidisciplinaryteam input with relatives updated from time to time with mentionof limited prognosis.

A Case Series on a Rare Clinical Presentation of Lichen Planopilaris Restricted to the Face

A Case Series on a Rare Clinical Presentation of Lichen Planopilaris Restricted to the Face

A Rare Presentation of Delusional Parasitosis With Koro-Like Syndrome

A Rare Presentation of Delusional Parasitosis With Koro-Like Syndrome

Rare recurrence pattern after complete response to chemotherapy in a patient with rectal cancer: a case report

BackgroundColorectal cancer (CRC) often metastasizes to the liver, lungs, lymph nodes, and peritoneum but rarely to the bladder, small intestine, and skin. We here report the rare metastasis of anal cancer in the left bladder wall, followed by metastases to the small intestine and skin, after abdominoperineal resection and left lateral lymph node dissection with chemotherapy in a patient with clinician Stage IVa disease.Case presentationA 66-year-old man presented with 1-month history of bloody stool and anal pain and diagnosed with clinical Stage IVa anal cancer with lymph node and liver metastases (cT3, N3 [#263L], M1a [H1]). Systemic chemotherapy led to clinical complete response (CR) for the liver metastasis and clinical near-CR for the primary tumor. Robot-assisted laparoscopic perineal rectal resection and left-sided lymph node dissection were performed. Computed tomography during 18-month postoperative follow-up identified a mass in the left bladder wall, which was biopsied with transurethral resection, was confirmed as recurrent anal cancer by histopathologic evaluation. After two cycles of systemic chemotherapy, partial resection of the small intestine was performed due to bowel obstruction not responding to conservative therapy. The histopathologic evaluation revealed lymphogenous invasion of the muscularis mucosa and subserosa of all sections. Ten months after the first surgery for bowel obstruction and two months before another surgery for obstruction of the small intestine, skin nodules extending from the lower abdomen to the thighs were observed. The histopathologic evaluation of the skin biopsy specimen collected at the time of surgery for small bowel obstructions led to the diagnosis of skin metastasis of anal cancer. Although panitumumab was administered after surgery, the patient died seven months after the diagnosis of skin metastasis.ConclusionsThis case illustrates the rare presentation of clinical Stage IVa anal cancer metastasizing to the bladder wall, small intestine, and skin several years after CR to chemotherapy.

Conservative management of complicated retropharyngeal abscess with Antitubercular Therapy

Retropharyngeal abscess, the infection of deep neck spaces, extends from the base of the skull to the posterior mediastinum. It develops as a sequela of dental infection, upper respiratory tract infection, or any interventional procedure like laryngoscopy, endotracheal intubation, etc. Retropharyngeal abscess is a rare presentation of Tuberculosis (TB), with an annual incidence rate of 2.64 per 100,000 population, and gender-based incidence rates of 3.34 for males, and 1.94 for females per 100,000 population.1 It, as a part of head and neck TB, has a prevalence of 0.1-1% among all forms of TB. If not managed timely, it may lead to the spread of its infection to the mediastinum, which can be life-threatening at times, owing to airway compromission and other catastrophic complications like mediastinitis, mediastinal abscess, pericarditis, pyopneumothorax pleuritis and empyema. We hereby present a case of a middle-aged woman diagnosed with a complicated retropharyngeal abscess but managed conservatively with Antitubercular Therapy (ATT).

Listeria brain abscess: a therapeutically challenging rare presentation of listeriosis

We report a very rare case of Listeria multiple brain abscesses manifested as delirium, which represented diagnostic and therapeutic challenges overcome only by the close cooperation between Infectious Diseases and Neuroradiology, without which a satisfactory outcome would not be achieved.An elderly man presented with confusion and drowsiness with a background of type-II diabetes mellitus. Although computed tomography of the brain only showed frontal lobe oedema, contrast magnetic resonance (MR) imaging showed numerous irregular rim-enhancing lesions containing central diffusion restriction, suggesting multiple pyogenic cerebral abscesses of unclear aetiology. Thereafter, Listeria monocytogenes was isolated from blood cultures, suggesting this as the causative organism. Deemed unsuitable for neurosurgical drainage, the patient received medical management with a protracted course of antibiotics. This case was extremely challenging, due to 1) the impossibility of source control, 2) the small number of effective antibiotics available to treat this condition, and 3) the inevitable antibiotic side-effects, derived from long-term exposure. A successful outcome was only possible thanks to strict close multidisciplinary follow up, requiring frequent MR imaging and a judicious antibiotic choice, including monitoring of their side-effects. Due to the rarity of this condition, there is lack of guidance on its management, hence the importance of multidisciplinary involvement with very close imaging and antibiotic monitoring.

Waldenstrom Macroglobulinemia Recurrence with Bing–Neel Syndrome Presentation

Bing–Neel syndrome (BNS) is a rare condition that may occur in patients with Waldenstrom macroglobulinemia (WM) and is caused by lymphoplasmacytic infiltration into the central nervous system. BNS is an extramedullary manifestation of WM which may present with various neurological signs and symptoms that make the diagnosis difficult to achieve. We present a case of BNS in a 60-year-old patient diagnosed 6 years after recovering from Waldenstrom’s macroglobulinemia. We observed the patient for a secondary generalized focal motor seizure. Unenhanced brain CT revealed slight hyperdensity of left parietal subarachnoid spaces. The MRI of the brain and spinal cord showed leptomeningeal enhancement in both parietal lobes. The presence of monoclonal bands (light chain k and IgM) was found in cerebrospinal fluid, leading to the diagnosis of BNS. The patient started treatment with ibrutinib and remains clinically stable during a 1-year follow-up. However, the MRI showed the appearance of a new subcortical left parietal lesion. BNS is an extremely rare presentation of WM that should be recognized and considered early in the presence of unexplained neurological symptoms in patients with a history of WM, even if the patient appears to have recovered.

Paraganglioma of the Thyroid Gland

Paragangliomas (PGs) are rare neuroendocrine tumor. Primary PGs are rare to be in the thyroid gland, and most of them present slowly. Enlarging thyroid nodules over several years, and most of the time, it is a nonfunctional tumor. We are presenting a rare thyroid neoplasm diagnosis as primary thyroid PG. Due to rare presentation and occurrence, thyroid PGs are frequently mistaken for other common thyroid neoplasms. It is mandatory to increase awareness of its rare expression in the thyroid and its characteristic features to prevent diagnostic and therapeutic pitfalls.

Bilateral adrenal haemorrhage secondary to heparin induced thrombocytopenia- a rare cause and presentation of adrenal crisis

Bilateral adrenal haemorrhage secondary to heparin induced thrombocytopenia- a rare cause and presentation of adrenal crisis

Acute Liver Failure with Intracerebral Hemorrhage in Dengue Fever: A Rare Clinical Presentation

Acute Liver Failure with Intracerebral Hemorrhage in Dengue Fever: A Rare Clinical Presentation

Double Ventricular Response with Aberrant Conduction Leading to Ventricular Dysfunction.

Double ventricular response (DVR), where a single P wave results in two QRS complexes, is a rare presentation of dual AV node physiology. It has been associated with ventricular dysfunction in the setting of incessant tachycardia. We present the case of an otherwise healthy adolescent who had frequent DVR without tachycardia leading to left ventricular dysfunction. Slow pathway modification led to a significant reduction in ectopy and normalization of ventricular function. This highlights that DVR without tachycardia might lead to ventricular dysfunction in pediatric patients. Slow pathway modification with reduction of ectopy may be sufficient to restore ventricular function.

Rare presentation of peripapillary staphyloma with normal visual acuity

Rare presentation of peripapillary staphyloma with normal visual acuity

Pathological Fracture of the Femur Following Chronic Osteomyelitis: A Case Report of This Rare Presentation in Adults

Pathological Fracture of the Femur Following Chronic Osteomyelitis: A Case Report of This Rare Presentation in Adults

Nodular basal cell carcinoma in a young female at an unusual site – A rare presentation

Nodular basal cell carcinoma in a young female at an unusual site – A rare presentation

Influenza-induced Pancreatitis and Pancreatic Encephalopathy: A Rare Clinical Presentation

Influenza-induced Pancreatitis and Pancreatic Encephalopathy: A Rare Clinical Presentation

Abstract PO5-21-01: Carcinoma en cuirasse- a rare, but striking, cutaneous manifestation of metastatic breast cancer

Abstract Introduction: Carcinoma en cuirasse is a rare cutaneous metastatic presentation most commonly arising from primary breast cancers, typically after mastectomy. It appears like cellulitis and later develops into thickened rough patches of skin and even nodules. Carcinoma en cuirasse holds a poor prognosis, and treatment is difficult. Chemotherapeutic agents are unable to reach the tumor cells necessary, and radiation is ineffective because of skin curvature. Case Presentation: We report a female in her 70s with prior history of left breast ductal carcinoma in situ status post-radiation and lumpectomy, who presented with skin thickening of the left breast and solid masses in bilateral breasts 10 years later. Biopsy showed invasive ductal carcinoma of left breast (estrogen receptor [ER]/progesterone receptor positive [PR], human epidermal growth factor receptor-2 [HER2] negative) and ductal carcinoma in situ of right breast (ER/PR positive). She underwent right breast lumpectomy; however, the left breast mastectomy was aborted due to worsening of her skin findings on preoperative examination. An excisional skin biopsy revealed poorly differentiated invasive ductal carcinoma involving the dermis, deep dermis and focally involving the epidermis. Her diagnosis changed to stage 4 breast cancer, specifically carcinoma en cuirasse. Systemic treatment was initiated with palbociclib and letrozole and subsequently, she underwent left breast mastectomy given an excellent response to initial therapy. Surgical biopsy interestingly was HER2 positive and therefore her regimen was changed to taxotere, trastuzumab and pertuzumab. She completed adjuvant treatment and has been on maintenance trastuzumab along with letrozole currently and is doing well 5 years later with negative PET scans. Discussion: Our case is unique due to diagnosis of carcinoma en cuirasse before mastectomy, change in HER2 receptor status during treatment and excellent response to therapy with ongoing response to date. We think that an early diagnosis as well as targeted treatment could be the possible reasons for prolonged survival of more than 5 years. Conclusion: Any unexplained skin findings in breast cancer patients should prompt consideration of carcinoma en cuirasse. With ongoing treatment advances, many newer therapy options are available for metastatic breast cancer. Based on our case, we think that patients with this disease can have better outcomes. Citation Format: Manasi Godbole, Kashmira Wani, Shereen Zia, Vrushali Dabak. Carcinoma en cuirasse- a rare, but striking, cutaneous manifestation of metastatic breast cancer [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO5-21-01.

Abstract PO5-20-06: Paraneoplastic cerebellar degeneration in anti-Yo antibody and HER2-positive metastatic breast carcinoma

Abstract Paraneoplastic cerebellar degeneration (PCD) in the context of breast carcinoma affects less than 1% of patients. In most cases, breast cancer diagnosis follows several months or even years after the onset of neurological symptoms. The first association between PCD and occult gynecologic cancers (breast or ovarian) was identified in 1938 with the discovery of antibodies directed against cytoplasmic antigens of Purkinje cells (“anti-Yo antibodies”). Since then, evidence has grown significantly to support anti-Yo antibodies as excellent diagnostic markers of PCD with underlying gynecologic and breast carcinoma. This case study evaluates a 57-year-old female who initially presented with headache and subacute cerebellar ataxia. Her symptoms progressed over a period of three months with multiple falls, onset of speech difficulties, and diplopia. She also reported 30-pound weight loss, which she attributed to dieting and starting semaglutide. Magnetic resonance imaging (MRI) of the brain and spine were unremarkable and autoimmune workup was normal. Cerebral spinal fluid (CSF) and serum studies demonstrated positive anti-Yo antibodies. Computed tomography (CT) of the abdomen and pelvis showed an enlarged left axillary lymph node concerning for metastatic disease with a 1.2cm focus of asymmetric density in the central inferior left breast parenchyma. Diagnostic mammogram one year prior was reportedly normal. Ataxia symptoms improved after a course of empiric intravenous immunoglobulins and steroids. Ultrasound-guided biopsy of the left axillary lymph node revealed metastatic mammary carcinoma: estrogen and progesterone receptor negative and human epidermal growth factor receptor 2 (HER2)-positive, cT0N2aM0, ypTxN1aM0, stage IIIa (AJCC 8th edition). She underwent further metastatic workup, including repeat CSF studies and MRI. MRI of the spine was remarkable for multiple hemangiomas throughout the cervical, thoracic, and lumbar spine, with subsequent unremarkable bone scan. MRI of the abdomen was remarkable for right hepatic lobe hemangioma and a right adrenal nodule. CSF studies showed no sign of metastases. After multidisciplinary discussion, TCHP (docetaxel, carboplatin, trastuzumab, and pertuzumab) neoadjuvant therapy was initiated and repeat imaging demonstrated favorable treatment response with a shrinking axillary mass; no primary breast mass was identified. The patient underwent left sentinel lymph node biopsy with a positive frozen section intraoperative for invasive cancer, therefore proceeded with left axillary lymph node dissection. She was offered a mastectomy but elected for only axillary surgery. Pathology revealed 1 of 14 lymph nodes were positive for metastatic ductal carcinoma. She remains in a rehabilitation center and her ataxia is improving, but her functional status remains below baseline. She is undergoing radiation to whole breast and regional lymph nodes. With this case, we aim to continue to build upon the limited base of the exceedingly rare presentation of breast cancer-associated paraneoplastic syndrome. In addition, several studies and case reports have demonstrated a strong correlation between HER2 overexpression and anti-Yo associated PCD. As we continue to diagnose and monitor breast cancer patients, we could consider starting to screen for anti-Yo antibodies in HER2-positive patients to gain insight into a patient’s prognosis and development of PCD. Citation Format: You Kim, Alison Coogan, Andrea Madrigrano. Paraneoplastic cerebellar degeneration in anti-Yo antibody and HER2-positive metastatic breast carcinoma [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO5-20-06.

Abstract PO3-20-06: TRUDI: A phase II study of neoadjuvant TRastuzumab derUxtecan and Durvalumab for stage III HER2-expressing Inflammatory breast cancer

Abstract Background: Despite being a rare presentation of breast cancer, inflammatory breast cancer (IBC) is responsible for up to 10% of all breast cancer-related deaths. Most IBCs express HER2, with up to 40% of all IBCs being HER2-positive and 40% being HER2-low. Additionally, IBC more often exhibits PD-L1 expression compared to non-IBC, suggesting a preeminent role for immune evasion in the development and progression of IBC. No systemic treatment approaches have been yet developed specifically for IBC, and standard treatments commonly lead to poor outcomes. Trastuzumab deruxtecan (T-DXd) is an anti-HER2 antibody-drug conjugate currently approved for patients with pretreated HER2-positive and HER2-low metastatic breast cancer. Early-phase data highlighted the safety and potential synergy of combining T-DXd with the immune checkpoint inhibitor durvalumab. The aim of TRUDI is to evaluate the clinical activity and safety of neoadjuvant T-DXd with durvalumab among patients with HER2-expressing IBC. Trial Design: TRUDI is an ongoing, open label, multicenter, two cohort investigator-initiated phase II neoadjuvant trial for patients with stage III HER2-expressing IBC. The trial was activated in May 2023, with enrollment ongoing. Eligible participants are women and men with previously untreated, stage III (T4d, any N) breast cancer, clinically determined to be IBC. Patients will be included in two cohorts, depending on the locally determined HER2 status (with any hormone receptor [HR] status): Cohort 1 (n=36) for patients with HER2-positive disease (HER2 IHC 3+ or 2+/ISH amplified); Cohort 2 (n=27) for patients with HER2-low disease (HER2 IHC 1+ or 2+/ISH not amplified). Patients will receive eight cycles of T-DXd (5.4 mg/kg IV every 21 days) combined with durvalumab (1125 mg IV every 21 days), followed by modified radical mastectomy and post-mastectomy radiation. Post-surgical systemic treatment will follow local standards. Tumor tissue will be collected at baseline, cycle 1 day 8, and at surgery; blood will be collected at baseline, cycle 4 day 1, cycle 7 day 1 and at surgery; stool will be collected at baseline, after 3-6 weeks of treatment and surgery. The primary endpoint is pathologic complete response (pCR; ypT0/Tis ypN0). Patients in each cohort will be enrolled based upon Simon two-stage designs: in Cohort 1, if ≥8/20 patients with HER2-positive IBC experience pCR then a total of 36 patients will be enrolled. In Cohort 2, if ≥1/18 patients with HER2-low IBC experience pCR then a total of 27 patients will be enrolled. Secondary endpoints include the residual cancer burden at surgery, event free survival, distant progression or distant disease-free survival, as well as safety of the regimen. Exploratory objectives will investigate biomarker analyses on tissue, blood, and microbiome to explore the association of HER2 expression, immune variables, and stool composition on the efficacy of T-DXd with durvalumab among patient with HER2-expressing IBC. To our knowledge, this is the first and only ongoing study testing the combination of an anti-HER2 antibody-drug conjugate with immunotherapy for the neoadjuvant treatment of patients with IBC. Clinical trial information: NCT05795101. Citation Format: Paolo Tarantino, Samuel Niman, Antonio Giordano, Faina Nakhlis, Jennifer Bellon, Wendy Woodward, Azadeh Nasrazadani, Sadia Saleem, Anthony Lucci, Michelle DeMeo, Naoto Ueno, Sara Tolaney, Vicente Valero, Meredith Regan, Rachel Layman, Filipa Lynce. TRUDI: A phase II study of neoadjuvant TRastuzumab derUxtecan and Durvalumab for stage III HER2-expressing Inflammatory breast cancer [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO3-20-06.

A rare presentation of Rosai-Dorfman-Destombes disease with central nervous system involvement and cutaneous wounds.

The aim of this case report is to investigate an uncommon presentation of Rosai-Dorfman-Destombes (RDD) disease, and discuss possible differential diagnoses and treatment options for this pathology. RDD is a rare disorder of histiocytes that typically presents in patients as painless cervical lymphadenopathy. However, this case involves a patient with the central nervous system (CNS) type of RDD who later developed cutaneous lesions. Several differential diagnoses were examined, including hidradenitis suppurativa, pilonidal cyst and pressure ulcers. It is important to be able to exclude these diagnoses based on the presentation, patient demographic and wound location. Biopsies verified the presence of RDD in the patient's suprasellar hypothalamic mass and skin lesions, confirming the patient had both CNS-RDD and cutaneous-RDD in the absence of lymphadenopathy. Recognising the unique manifestations of rare diseases such as RDD prevents delay of proper intervention and treatment.