Unusual Case Research Articles

Unusual phenotype in 35delG mutation: a case report

BackgroundMutations in the GJB2 gene, which encodes the protein connexin 26 and is involved in inner ear homeostasis, are identified in approximately 50% of patients with autosomal recessive nonsyndromic hearing loss, making it one of the primary causes of prelingual nonsyndromic hearing loss in various populations. The 35delG mutation, one of the most common mutations of the GJB2 gene, usually causes prelingual, bilateral mild to profound, nonprogressive sensorineural hearing loss.Case presentationWe present an unusual case of an 18-year-old Turkish female with heterozygous 35delG mutation and postlingual, profound-sloping, progressive and fluctuating unilateral sensorineural hearing loss. The phenotype is different from the usual findings.ConclusionsThe 35delG mutation causing hearing loss may not always be reflected in the phenotype as expected and therefore may have different audiologic manifestations.

Glomangiopericytoma of the Nasal Sinus Mimicking Dacryocoele: A Case Report and Literature Review

Introduction: Glomangiopericytoma (GPC) of the nasal sinus is a rare mesenchymal tumor that can mimic various benign pathologies in this anatomical region. We report an unusual clinical case and describe the diagnostic and therapeutic challenges encountered. Case Presentation: A 62-year-old woman presented with swelling of the left inner eye angle, tearing, and ipsilateral nasal obstruction. Clinical examination and imaging initially suggested chronic dacryocystitis. A polypoid nasal sinus mass was detected on endoscopy and computed tomography. Complete excision was performed via endoscopic nasal sinus surgery. The histopathological analysis confirmed the definitive diagnosis of glomangiopericytoma. Discussion: Nasal sinus GPC is a rare tumor, typically benign, derived from perivascular cells. Its clinical presentation is nonspecific and can mimic more common pathologies. Diagnosis is based on imaging and histopathological analysis with immunohistochemistry. The treatment of choice is complete surgical excision, preferably via minimally invasive endoscopic approach. Long-term close monitoring is recommended due to the risk of local recurrence. Conclusion: This clinical case highlights the importance of considering glomangiopericytoma in the differential diagnosis of nasal sinus masses, even in cases of initial benign presentation. A multidisciplinary approach, involving imaging, surgery, and histopathological analysis, is essential for optimal management.

Merrem's Hump-Nosed Viper (Hypnale hypnale) Bite on the Tongue of an Infant Leading to Upper Airway Obstruction: An Unusual Presentation.

Snakebites in unusual anatomical locations may lead to life-threatening consequences. Merrem's hump-nosed viper (Hypnale hypnale) is a medically important snake in Sri Lanka and India that causes many bites and envenomings. Their bites occur almost exclusively on upper and lower limbs and commonly result in local effects, with some patients developing systemic envenoming. No antivenom is available for treating envenoming by H. hypnale. We report an unusual case of H. hypnale bite on the tongue of a 10-month-old infant resulting in rapid local swelling of the tongue and floor of the mouth, requiring prompt intervention to prevent life-threatening upper airway obstruction. Early tracheostomy prevented upper airway obstruction and, along with supportive steroid therapy and antibiotics, led to a complete resolution of the local effects of the infant without permanent disability, despite the unavailability of antivenom.

Herpes Simplex Virus Dacryoadenitis Preceding Skin Vesicles.

Herpes simplex virus involvement of the orbit is rare. We report the case of an immunocompetent patient who presented with preseptal edema, erythema, decreased vision, and dacryoadenitis prior to the appearance of vesicular skin lesions and in the absence of corneal dendrites. The patient's clinical picture failed to improve on empiric therapy with intravenous antibiotics. The patient subsequently developed skin vesicles and a nucleic acid amplification swab of the ocular surface was positive for herpes simplex virus-1. The patient demonstrated rapid clinical improvement after initiation of oral antivirals. This is an unusual case of presumed herpes simplex virus dacryoadenitis preceding skin vesicles in an immunocompetent patient.

Rare Presentation of Melanoma Recurrences With Diffuse Subcutaneous Intravascular Lesions: A Novel In-Transit Metastases Pattern.

In 4%-11% of cases, melanoma recurrences present as in-transit (IT) metastases, and their prognosis is quite poor. Consequently, an early diagnosis and treatment of IT metastasis assume paramount significance. Despite this, the diagnosis of cutaneous IT metastases persistently presents a formidable challenge due to the diversity in clinical and dermoscopic characteristics. We provide a novel melanoma IT metastases pattern with interesting dermoscopic features and magnetic resonance imaging via presenting an unusual case characterized by diffuse subcutaneous intravascular lesions to supplement the understanding of cutaneous melanoma IT metastases.

Ovarian hyperthecosis vs androgen producing tumour: A challenging and unusual case

Ovarian hyperthecosis vs androgen producing tumour: A challenging and unusual case

Gynecomastia as the first manifestation of thyrotoxicosis: an unusual case report

Gynecomastia as the first manifestation of thyrotoxicosis: an unusual case report

An unusual case of arrested puberty and management of puberty induction in the adult endocrine clinic

An unusual case of arrested puberty and management of puberty induction in the adult endocrine clinic

Endocrine responses to kisspeptin in an unusual case of kallmann syndrome with unilateral anosmia

Endocrine responses to kisspeptin in an unusual case of kallmann syndrome with unilateral anosmia

An unusual case of periumbilical discolouration – Cullen’s sign

An unusual case of periumbilical discolouration – Cullen’s sign

Successful Expectant Management of Multiple Spoons Ingestion in a Psychiatric Patient. An Unusual Case Report

The management of foreign body ingestion is a clinical dilemma that is often encountered, and 80% of these cases do not require intervention as they will pass out spontaneously. We presented a case of multiple spoon ingestion in a 32-year-old psychiatric patient who had previous abdominal surgery for a similar problem. This case report attempted to elucidate the option and considerations in managing foreign body ingestion.

An Unusual Case Report of Cotard’s Syndrome with Depressive Delusions

Cotard’s Syndrome, also known as nihilistic delusion or Cotard’s delusion, is an exceptionally rare psychiatric condition characterized by delusional beliefs ranging from a sense of being dead to the conviction of bodily decay or nonexistence. This case report of a male patient, aged 21 years, with Cotard’s Syndrome highlights the difficulties in diagnosis, the course of therapy, and the clinical ramifications of this illness. The patient exhibited symptoms of severe depression along with nihilistic delusions, expressing the belief that he was deceased and experiencing bodily decay. Nihilistic delusions and depressed symptoms compatible with Cotard’s syndrome in the setting of major depressive disorder were found during the patient’s mental state evaluation, despite the absence of a serious physical disease or drug addiction. Treatment consisted of antidepressant and antipsychotic medication, along with individual psychotherapy sessions focusing on cognitive restructuring. Over time, the patient demonstrated gradual improvement in delusional beliefs and depressive symptoms, highlighting the importance of comprehensive psychiatric evaluation and individualized treatment planning.

An unusual case of cervical cellulitis

An unusual case of cervical cellulitis

A case of dumbbell-shaped accessory scrotum with concomitant lipoma

BackgroundAccessory scrotum is a congenital scrotal anomaly that is usually located anterior to the anus and frequently presents with a lipoma in a bead-like shape. Herein, we present an unusual case of an accessory scrotum with a lipoma connected by a narrow stalk and located posterior to the anus.Case presentationA 1-month-old boy was referred to our hospital for a perineal mass present at birth. He was born at 37 weeks and 2 days, with a birth weight of 2962 g. No abnormalities occurred during the perinatal period, and the birth was uneventful. The mass had an unusual shape, comprising two masses connected by a narrow stalk. The base of the mass was posterior to the anus and was connected to the rectal mucosa. The proximal mass was elastic and soft without skinfolds, whereas the distal mass was elastic and soft with a scrotum-like skinfolds. Magnetic resonance imaging showed no spina bifida. High-intensity adipose tissues in both masses and low-intensity vessels or fibrous stroma in cord-like structures between the two masses were found on T2-weighted images. At 3 months of age, the patient underwent resection in the prone jackknife position. No tumorous lesions were connected to the mass on the rectal and coccyx sides, and the mass was completely removed, preserving the anal sphincter. Histologically, the distal mass had characteristics of a scrotum, whereas the proximal mass was exclusively a lipoma. The connecting stalk had normal skin structures and a blood vessel with parallel-running nerve bundles. The postoperative course was uneventful, and the patient was discharged on postoperative day 6.ConclusionsThis case of accessory scrotum was unusual in its location and the presence of a stalk connecting the accessory scrotum and lipoma. The mechanism underlying accessory scrotum development remains unclear, and our report may impact the discourse regarding the embryological development of the accessory scrotum.

Nodular/Keloidal Scleroderma with No Systemic Involvement-A Case Report and a Review of the Literature.

Nodular or keloidal scleroderma is a rare condition with unclear cause and sporadic mentions in the medical literature. It was first recognized in the 19th century, yet its classification is still debated due to the limited number of reported cases. This rare variant of scleroderma is associated with either progressive systemic sclerosis or localized morphea. Clinically, it presents with asymptomatic nodules or plaques, resembling spontaneous keloid formation, often found on the trunk and proximal extremities. Recent literature reviews show a predominance of women with a mean age of 44 years. Diagnosis relies on clinical and histopathological findings, which usually show overlapping features of both scleroderma and true keloids, secondarily to an excessive fibrosing reaction attributed to collagen formation. We present an unusual case of a 70-year-old female patient who displayed the coexistence of two distinct subtypes of morphea (nodular/keloidal and linear), and exclusive skin involvement, which contrasts with the typical presentation of nodular/keloidal scleroderma, often associated with organ-specific disease. However, recent publications have diverged from previous ones regarding systemic sclerosis, with no systemic involvement reported between 2018 and 2024, which we evaluated in our descriptive literature review. With less than 50 cases reported in total, our case underlines the importance of recognizing this rare disease, ensuring appropriate evaluation, treatment, and follow-up.

Pruritic urticarial papules and plaques of pregnancy: An unusual case report from a tertiary care hospital of the Eastern part of India

Pruritic urticarial papules and plaques of pregnancy (PUPPP) is a rare dermatitis of unknown etiology first diagnosed in 1979. It occurs most commonly in the 3rd trimester of pregnancy. Postpartum presentation is extremely rare. Treatment modalities mostly involve the relief of symptoms. We are going to report here one case of a 24-year-old primigravid female who presented in the 9th month of the gestational period with generalized pruritic eruptions in a tertiary care hospital in the Eastern part of India. These eruptions were erythematous, hyperpigmented, and papular, which began within the striae distensae of the abdomen and progressively spread on the skin of upper and lower limbs, trunk, and buttocks. After the delivery of a full-term male child, there was an aggravation of the symptoms such as itching and disturbed sleep. There was also increased spread of the lesions over the skins of the mentioned areas, which persisted for 6 weeks of the postpartum period. The lesions and associated symptoms gradually subsided with topical application of corticosteroids and hydroquinone along with oral antihistaminic for prolonged periods. Our objective behind reporting this case is to make clinicians aware of PUPPP as a differential diagnosis of peripartum and postpartum pruritic eruptions for prolonged periods.

14 Yıllık Bir Port Kateterin Sık Karşılaşılmayan Komplikasyonu

Percutaneous subclavian catheters or port-catheters are commonly used for oncology patients who require long-term or continuous intravenous therapy. There are several reported complications related to port-catheters like arterial puncture, pneumothorax and hematoma. We aimed to report an unusual port-catheter case. Our patient was a 45-year-old male who had a port-catheter inserted after the diagnosis of rectum cancer in 2009 and has never showed up for a catheter removal after his chemotheraphy regimen had been completed. The silicone port of the catheter was found to be disintegrated during the catheter removal procedure. Removal was performed but distal 5 cm of the catheter was missing. At the end of the procedure, control X-ray was obtained , but the last part of the catheter could not be visualized. There are reported cases of pinch-off syndrome in the literature however we couldn’t find any such case as we report. Following port-catheter implantation and throughout the course of treatment, patients should be consistently monitored, and an appropriate time should be scheduled for removal. Physicians should be aware of complications and multidisciplinary approaches should be made to avoid serious events and further harm. Keywords: Port-catheter complication, port-catheter removal, port-catheter detachment, pinch-off syndrome

De Novo Metastatic Prostate Cancer Presenting With Atypical Lower-Limb Skeletal Metastases Detected on 68Ga-PSMA PET/CT.

Metastatic prostate cancer to the appendicular skeleton is rare. We present an 86-year-old man with undiagnosed prostate cancer presenting with unilateral foot pain. CT and MRI demonstrated a sclerotic midfoot suggestive of an infiltrative process. In view of an elevated PSA, metastatic disease was suspected, and bone scan confirmed osteoblastically active pelvic and lower-limb skeletal lesions. Subsequent prostate biopsy confirmed prostate adenocarcinoma. Staging 68Ga-PSMA PET/CT demonstrated PSMA-avid intraprostatic malignancy with pelvic and right lower-limb skeletal metastases. This is an unusual case of de novo 68Ga-PSMA-avid metastatic prostate cancer with atypical lower-limb skeletal metastases presenting with foot pain.

Leaking beehive honey sign an unusual case of central serous chorioretinopathy

Central serous chorioretinopathy is the fourth most common retinopathy after age-related macular degeneration, diabetic retinopathy and branch retinal vein occlusion. It’s usually unilateral and affect young or middle-aged men with M: F - 3:1 whereas female tend to be older. It’s a common ocular disease characterized by decompensation of the retinal pigment epithelium, which results in neurosensory retinal detachment, serous pigment epithelium detachment, and retinal pigment epithelium atrophy. Early identification and treatment are needed to prevent complications. Conclusion: Patients may require early intervention to prevent loss of photoreceptor layer integrity. Though Majority of cases are self-resolving, mineralocorticoid antagonists can be given for faster resorption of subretinal fluid. Photo Dynamic Therapy may be required for cases of chronic Central Serous Chorioretinopathy.

Tibial tuberosity fracture in adult as an unusual pattern of injury

Tibial tuberosity avulsion is an uncommon fracture in adults, such lesions typically seen in adolescent male with well-developed quadriceps, ligaments when they are stronger than growth plate. We described a case of 51-year-old gentlemen had direct trauma to left knee, no risk factors were identified, not able to walk, difficulty in straight leg raise test, radiograph of left knee showed tibial tuberosity avulsion fracture. The fracture was treated with open reduction and internal fixation, f/u with successful rehabilitation which results in good range of motion and excellent function at knee joint. The aim of study is present unusual and rare case of tibial tuberosity Avulsion fracture in adult, early diagnosis, surgical mode of treatment, post-surgery rehabilitation and possible complications.