Periodontal therapy for hopeless mandibular anterior teeth: a retrospective case report with a multidisciplinary approach and a 20-year follow-up

Introduction: This case report presents the intentional periodontal maintenance of two periodontal hopeless lower central incisors with a multidisciplinary approach and 20-year follow-up. Case presentation: A 36-year-old male, in 2001, was diagnosed with aggressive periodontitis, gingival swelling, bleeding, and mandibular central incisors with mobility and poor prognosis. Following periodontal therapy (phase I), root canal treatment, and occlusal adjustment, #31 and #41 were gently extracted to remove the granulation tissues, calculus, and infected cementum from the root surface. Then, tetracycline-HCl was applied for 5 minutes on the root surfaces. The teeth were repositioned into the sockets and splinted with a lingual bar. At 3 months, the bar was removed, and a free gingival autogenous graft was done to improve the local keratinized tissue width. Mobility scores, pocket depths, and clinical attachment levels were recorded, and radiographs were taken at 1, 5, and 20 years. The 5-year follow-up showed that the teeth were clinically and radiographically in function. There was a reduction in probing depth and a gain in clinical attachment and radiographic alveolar bone levels. After 20 years, #41 was stable, but #31 had external root resorption, leading to a new treatment plan (dental implants) and extraction. Conclusion: The clinical result of this case was satisfactory for 20 years. Intentional periodontal maintenance of the teeth may be an alternative treatment, even considering the high level of complexity.

Challenges in the management of familial hypercholesterolemia: a case report.

Background: Familial hypercholesterolemia (FH) is a serious genetic condition that results in abnormally high levels of low-density lipoprotein cholesterol (LDL-C) in the bloodstream, significantly increasing the risk of early onset of cardiovascular disease. The heterozygous form of FH (HeFH) is widespread, affecting around 1 in 500 people worldwide. Case report: In this clinical report, we present the case of a patient who suffers from HeFH due to a mutation in the LDL receptor (LDLR) gene. A woman exhibited intolerance to statin therapy and did not attain adequate reduction in low-density lipoprotein cholesterol (LDL-C) levels on ezetimibe monotherapy. Genetic testing confirmed the presence of a pathogenic variant for FH with the deletion of exons 7-14. The administration of alirocumab (a dose of 150 mg sc) as the primary therapy did not exhibit the desired therapeutic outcome. Consequently, the patient was given inclisiran therapy (a dose of 284 mg sc), which significantly reduced LDL cholesterol levels after 3 months of treatment and during the 1-year follow-up. Conclusion: Inclisiran therapy has shown promising results for individuals with HeFH who experience statin intolerance. This therapy works by using a small interfering RNA (siRNA) to target the mRNA of proprotein convertase subtilisin/kexin type 9 (PCSK9), which leads to a significant reduction of LDL-C levels. This approach can be an alternative for patients without significant reductions in LDL-C levels with PCSK9 inhibitor therapy. For HeFH patients with limited treatment options due to statin intolerance and genetic mutations, inclisiran can represent a promising therapeutic option.

A Boy With KIF11-Associated Disorder Along With ADHD and ASD: Collaboration Between Paediatrics and Child Psychiatry.

Kinesin family member 11 (KIF11)-associated disorder, a rare condition caused by autosomal dominant mutations in the KIF11 gene, presents with microcephaly, chorioretinal dysplasia, lymphoedema, and varying degrees of intellectual disability. While intellectual disability is often described in the literature on KIF11 mutations, autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are only mentioned by a few authors but not thoroughly investigated. We present a case report of an 8-year-old boy with KIF11-associated disorder alongside ADHD and ASD but without intellectual disability. Genetic testing confirmed a KIF11 mutation. Cognitive, language, and motor assessments revealed delays in fine motor skills and attention deficits. The diagnosis of ADHD was confirmed by a child neurologist through multidisciplinary investigations, while the ASD diagnosis was established by a child psychiatrist. Despite the challenges of delayed psychiatric assessment, interventions including physiotherapy and medication management were initiated with positive results. We designed a parent support group survey that showed a higher prevalence of neurodevelopmental disorders in children with KIF11 mutations compared to the general population. Therefore, low-threshold referrals to a child psychiatrist have to be made when the potential presence of developmental problems is suspected. Collaboration between ophthalmologists, paediatricians, and child psychiatrists is crucial for early detection and intervention. Addressing developmental disorders promptly improves long-term outcomes and enhances quality of life. Moreover, gaining a deeper understanding of the higher prevalence of ASD and ADHD in individuals with KIF11 mutations could offer valuable insights into the genetic mechanisms underlying neurodevelopmental disorders.

Ogilvie syndrome with caecal perforation following cesarean section: a rare case report from Jordan.

Introduction: Ogilvie syndrome is a rare condition characterized by acute colonic dilation. In 1948, H. Ogilvie first described it in medical literature. Its incidence is estimated at 100 cases per 100 000 per year in the US. Both abdominal distention and pain are considered major symptoms. Presentation of case: A 32-year-old woman, 36+1 weeks pregnant, experienced labour pain and was admitted to the hospital. Upon examination, she was in labour, but the foetus was in a breech position, necessitating a caesarean section. After 36 h later, she returned to the emergency department with severe, 1-day-old diffuse abdominal pain, accompanied by moderate bilious vomiting and significant abdominal distension. Abdominal CT with contrast revealed pneumoperitoneum, abdominal wall emphysema, and pneumatosis intestinalis involving the caecum and ascending colon, suggesting bowel necrosis. Emergency laparotomy revealed a caecal perforation, which was closed surgically without resection. Clinical discussion: Ogilvie syndrome is more common in males but can occur in females for several reasons, including pregnancy, caesarean section, pelvic surgeries, and trauma. Several factors contribute to the occurrence of this syndrome, such as pelvic fractures and cardiac events. Surgery may be required if there is suspicion of bowel perforation or ischaemia. Conclusion: OS is a rare condition in women, often seen after childbirth or pelvic surgery, with an unclear cause but believed to be related to autonomic nervous system imbalance. Patients with abdominal pain and distension, without evidence of obstruction, should be evaluated for pseudo-obstruction using abdominal pelvic CT, and treatment may involve conservative measures, medication, and colonoscopic decompression.

Neurofibromatosis to neoplasia transition: a rare case report of spindle cell malignant peripheral nerve sheath tumor with literature review.

Introduction and importance: Malignant peripheral nerve sheath tumor (MPNST) is a rare and aggressive soft tissue malignant tumor. MPNST in the spinal canal is rarely seen except in cases of neurofibromatosis type 1. However, a long-segment extradural spinal malignant spindle cell neoplasm has not been reported in the current literature. Case presentation: We present the first reported case of spinal malignant spindle cell neoplasm extended along the spine. The detected lesion is responsible for compressing various segments of the spinal cord, causing thinning of the cord and secondary stenosis of the spinal canal, leading to a condition known as multisegment compression myelopathy. Clinical discussion: MPNSTs are typically detected late due to nonspecific symptoms, with a higher incidence in extremities and a notable occurrence in unusual locations. Diagnosis relies on MRI and histopathology, with S_100 positivity as a neural marker. MPNSTs can arise from neurofibromas or Schwann cells, with a significant portion resulting from TP53 mutations or secondary to radiation exposure. Conclusion: This case stands out due to its unique presentation, characterized by a predominantly spindle cell morphology with certain epithelioid features. It is imperative to recognize this condition for an accurate diagnosis, emphasizing the spindle cell-type MPNST and highlighting its exceptionally poor prognosis.

Bilateral visual loss as the initial presentation of chronic myeloid leukemia: a case report.

Introduction: Chronic myeloid leukemia (CML) is the most common leukemia in adults. It can present with a wide variable range of symptoms and signs related to the phase of the disease. Ophthalmic manifestations as the first presentation of CML are unique, although they can occur during any stage of the disease. Ocular lesions in CML patients may be asymptomatic, so all patients should undergo an eye evaluation at the initial diagnosis. Case presentation: The authors report a case of a 17-year-old Syrian male who initially presented with progressive loss of vision, fatigue, and abdominal pain. Clinical examination showed bilateral retinal aneurysm hemorrhage, jaundice, and splenomegaly. Bone marrow biopsy results were consistent with the diagnosis of CML returning to AML. The patient was treated with intensive chemotherapy and then prepared for hematopoietic transplantation. Discussion: CML can present with variable symptoms and signs, but the ophthalmic manifestations are uncommon. Ophthalmic problems occur either from infiltration of neoplastic cells or from secondary causes, like thrombocytopenia, leukocytosis, hyperviscosity syndrome, or leukoembolization. In the literature, only some case reports presented eye involvement in CML as the first manifestation. Conclusion: Although this is a rare presentation of CML, we believe that it should be taken into consideration when managing these situations to obtain the right diagnosis and better treatment results. Collaboration between hematologists and ophthalmologists is necessary in deciding the treatment. Acute myeloid leukemia needs immediate medical attention and different treatment from CML.

A case report on incidentally detected pulmonary sclerosing pneumocytoma: a diagnostic challenge.

Introduction and importance: Pulmonary sclerosing pneumocytoma (PSP) is a rare non-cancerous lung tumor that is usually asymptomatic, but may cause respiratory distress if it becomes large. PSPs are often detected incidentally because of their slow growth, lack of symptoms, characteristic radiographic features, and increased use of imaging studies. Although it is not a malignant tumor, it can mimic malignancy on imaging and histology, leading to misdiagnosis and unnecessary surgery. Case presentation: A 23-year-old asymptomatic female was incidentally diagnosed with PSP during evaluation for a breast fibroadenoma. A chest CT revealed a 3 cm lobulated mass in the left upper lobe. Cytology showed malignant cells with necrotic debris. Immunohistochemistry was positive for TTF-1 and EMA, negative for p63 and AE1/AE3. Histopathology confirmed a well-circumscribed benign neoplasm, consistent with pulmonary sclerosing pneumocytoma. There was no mediastinal lymph node invasion, and the post-surgery prognosis was good. Clinical discussion: PSP is a slow-growing tumor that is often asymptomatic until it reaches a significant size. Owing to their well-circumscribed margins and the presence of calcifications, they are often detected incidentally during imaging studies, such as routine chest radiography or CT scans for unrelated conditions. Although these tumors are often incidental, it is important to diagnose and treat them appropriately to prevent potential complications and malignant transformation. Conclusion: The findings of this study contribute to the existing literature, increase awareness of this rare tumor, and provide insights into its diagnosis, treatment, and follow-up.

A complex case of PASH syndrome: pyoderma gangrenosum, acne, suppurative hidradenitis, and Crohn's disease in a 36-year-old smoker.

Introduction and importance: PASH syndrome, is autoinflammatory condition driven by immune system dysfunction, resulting in elevated interleukin 1 levels and subsequent production of proinflammatory cytokines and chemokines. The clinical progression of PASH typically starts with acne conglobate in adolescence, followed by hidradenitis suppurativa, and pyoderma gangrenosum. Diagnosis relies on recognizing these hallmark features, but treatment remains a challenge despite current understanding. Conventional immunosuppressive therapies have shown limited efficacy in managing PASH syndrome. Case presentation: The authors present a 36-year-old man with a complex combination of pyoderma gangrenosum, acne, suppurative hidradenitis, obesity, and Crohn's disease. The patient's symptoms began in adolescence with acne and recurrent furuncles, evolving into painful skin ulcers and fistulas over time. Histological examination confirmed the diagnosis of pyoderma gangrenosum. Despite various treatment modalities, including isotretinoin, cyclosporine, azathioprine, and adalimumab, the patient experienced only partial improvement until receiving Infliximab, which led to remarkable improvement. Discussion: PASH syndrome, a rare neutrophilic dermatosis linked to autoinflammatory conditions like Braun Flaco, is characterized by Pyoderma gangrenosum, acne, and suppurative hidradenitis. This clinical entity presents diagnostic challenges due to its unique features and association with obesity and bowel diseases, such as Crohn's disease. Treatment options, including TNF-α blockers like Infliximab, have shown promising results in controlling cutaneous manifestations. Our case study underscores the complexity of treating PASH syndrome and highlights the importance of personalized therapeutic approaches for optimal outcomes. Conclusion: PASH syndrome presents significant diagnostic and treatment challenges due to its complex symptomatology and associations with conditions like Crohn's disease. The case of a 36-year-old man demonstrates the partial efficacy of conventional therapies and highlights the promising results of infliximab. This underscores the need for personalized treatment strategies and ongoing research to improve outcomes for patients with this rare and intricate syndrome.

Multiple primary malignancies: sequential development of Ewing sarcoma and carcinoid tumor in a single patient.

Introduction and importance: Multiple primary malignancies (MPMs) involve two or more distinct primary cancers in one individual, either simultaneously or at different times. The incidence of MPMs is rising due to advancements in cancer detection, improved survival rates, and long-term treatment effects. This case report, likely the first of its kind, highlights a rare instance of a 30-year-old female developing a carcinoid tumor 5 years after Ewing sarcoma, emphasizing the need for vigilant monitoring of cancer survivors. Case presentation: A 30-year-old female with a history of Ewing Sarcoma diagnosed 5 years prior, initially presenting with a vascular, hard mass on her right shoulder, underwent neoadjuvant chemotherapy and surgical excision. She recently presented with high-grade fever, cough, weight loss, and severe chest pain. Imaging and biopsy confirmed a high-grade carcinoid tumor. Histopathology showed positive markers for Synaptophysin, CD56, and Chromogranin, with a Ki-67 index of 30-40%. The patient passed away after one cycle of chemotherapy. Clinical discussion: Diagnosing and managing MPMs is challenging due to the complexity of distinguishing primary tumors from metastases. This case fits the Warren and Gates' criteria for MPMs. This case confirmed Ewing sarcoma and atypical carcinoid tumor as distinct primary malignancies. Delayed diagnosis worsens outcomes, especially for aggressive atypical carcinoids. This case underscores the importance of thorough diagnostics, long-term follow-up, and improved healthcare infrastructure. Conclusion: This case report emphasizes the importance of a multidisciplinary approach, regular follow-ups, and timely detection for effective management of MPMs.

A unique presentation of pericardial epithelioid angiosarcoma with multifaceted complications.

Introduction and importance: Angiosarcomas are rare tumors of endothelial origin and may arise in any organ. Epithelioid angiosarcomas are a subtype of angiosarcoma that are rapidly progressive and typically fatal. Case presentation: The authors report a case of a 25-year-old previously healthy female who presented initially for dyspnea and palpitations, on further evaluation she was found to have large bilateral pleural effusions and cardiac tamponade. Clinical discussion: Pericardiocentesis and thoracentesis were performed alongside biopsies that revealed atypical cellular proliferation.Fluorodeoxyglucose-positron emission tomography (FDG-PET) showed avid uptake in the anterior mediastinum, perivascular, paratracheal, subcarinal and pleural lymph nodes with large FDG uptake in the bilateral pleural effusion.Mediastinoscopy was done and biopsies showed an overtly malignant, epithelioid neoplasm with foci of vaso-formation; Keeping with high-grade epithelioid angiosarcoma of the pericardium.She received six cycles of weekly paclitaxel, but imaging for abdominal pain incidentally showed evidence of metastasis to the liver and spine so she was switched to Adriamycin-Ifosfamide for which she received one cycle so far.Her hospital course was complicated by high-output pleural effusions, chylothorax, left atrial thrombus formation and an intensive care unit stay for septic shock. Conclusion: Pericardial epithelioid angiosarcoma has been reported rarely in the literature. The authors aim to report a case of extensive metastatic pericardial epithelioid angiosarcoma in a young patient; which we believe can be an addition to the literature of a malignancy associated with poor prognosis and no definitive proven treatment regimen.

Aortic ulcerated plaque discovery following mesenteric infarction in a 60-year-old patient: a case report.

Introduction: A penetrating aortic ulcer (PAU), which accounts for 2-7% of all acute aortic syndromes, is the ulceration of an aortic atherosclerotic plaque that passes through the internal elastic lamina and into the aortic medium. Although PAUs are frequently seen in the middle and lower descending thoracic aortas, it is rare for them to arise in the ascending aorta. Atherosclerotic vascular illnesses and isolated peripheral arterial illnesses are associated with similar risk factors, such as male sex, advanced age, a history of tobacco use, hypertension, hyperlipidemia, and coronary artery disease. Just 20-54% of people with PAU first exhibit symptoms, suggesting that the condition might sometimes present as an asymptomatic phenomenon. Case presentation: A 60-year-old male came to the emergency department due to severe abdominal pain and abdominal contractures, which were diagnosed as mesenteric infarction with a relatively small infarcted intestinal segment. A part of the intestine was resected. Then he was referred to request a cardiac consultation to search for the source of the mesenteric infarction, which turned out to be an embolus. Clinical discussion: The patient was referred to cardiac surgery to perform aortic grafting. Conclusion: Aortic ulcer and mesenteric infarction together provide a challenging clinical picture that has to be recognized and treated right away. A high index of suspicion is necessary due to the possibility of fast deterioration, particularly in individuals who have risk factors like arteriosclerosis. Improving outcomes depends critically on early diagnostic imaging and intervention.

Surgical approach to congenital nasal dermoid sinus cyst in adult with external rhinoplasty and endoscopic approach: a case report.

Introduction and importance: Nasal dermoid sinus cysts (NDSCs) are rare congenital nasal lesions which typically arise in early childhood. Complete surgical excision is the only therapy, and many approaches have been used according to the location and the extension of the mass. Several studies have advocated external rhinoplasty and endoscopy. Case presentation: A 21-year-old female presented with a mass on the root of the nose, which appeared since childhood, and enlarged after puberty. Investigations including imaging revealed a lobulated mass extending from the osteocartilaginous junction towards the nasion, affecting the left lateral nasal wall. And its upper pole was resting on the floor of the left frontal sinus. Complete resection was performed using external rhinoplasty and endoscopy approaches, which improved esthetic results. Lateral osteotomy was used to compensate for the lateral nasal bone loss by narrowing the width of the nose. After 10 weeks of follow-up, no complications occurred, and the patient was satisfied with the cosmetic results. Clinical discussion: Nasal dermoid sinus cysts are congenital midline nasal lesions that can present as an isolated mass, or associated with intracranial extension. External rhinoplasty and endoscopy approaches are recommended for complete excision of NDSCs extending to the anterior skull base, especially when there is no intracranial involvement or in case of small intracranial extension. These two methods allow for repairing bone defects of the anterior skull base and improve esthetic results. However, in cases of large intracranial extension, craniotomy is preferred. Conclusion: The surgical approach used in the treatment of nasal dermoid sinus cysts should be a minimally invasive technique that reduces bone morbidity and provides good cosmetic results.

Postcesarean section abdominal wall endometriosis: a rare case report.

Introduction and importance: Abdominal wall endometriosis (AWE) is a rare but significant complication following cesarean sections. It manifests with recurring right lower quadrant pain, particularly during menstruation, and palpable masses at the cesarean scar site. Recognizing these symptoms is critical for timely diagnosis and effective management. This report discusses the clinical manifestations, diagnostic approach, surgical intervention, and postoperative outcomes of AWE in a specific patient. Case presentation: A 28-year-old female presented with recurrent right lower quadrant pain, exacerbated during menstruation, and a palpable mass at her previous cesarean scar. Imaging revealed a well-defined 3.6 ×3 cm mass infiltrating through all layers of the abdominal wall. Clinical discussion: This case highlights the challenges of diagnosing AWE, often presenting with vague symptoms like cyclic pain and palpable masses. The primary diagnostic tool was a CT scan, with histopathological examination confirming the diagnosis. Surgical excision was performed, resulting in significant symptom relief and a low recurrence rate. Conclusion: This case underscores the importance of vigilance for AWE symptoms in patients with prior cesarean sections. Early recognition and surgical intervention are paramount for effective management and symptom alleviation.

Prompt response to rituximab in a patient with resistant polymyositis with complications of dysphagia and dysphonia: a case report.

Introduction and importance: Polymyositis is an inflammatory process, primarily affecting proximal muscles, characterized by elevated muscle enzymes and distinctive electromyography patterns. Case presentation: The authors present a case of a 33-year-old male patient experiencing complications of polymyositis, including pharyngeal and laryngeal involvement leading to dysphagia and dysphonia. Steroids and intravenous immunoglobulin (IVIG) therapy proved ineffective. Subsequently, rituximab was administered, resulting in significant improvement in dysphagia, dysphonia, and proximal muscles within 3 days of the initial rituximab dose. Additionally, there was a remarkable decrease in creatine phosphokinase (CPK) levels. Clinical discussion: Immune-mediated myopathies (IMM) are rare diseases characterized by muscle inflammation and weakness. This case of probable polymyositis, diagnosed through clinical features and elevated CPK, was complicated by the patient's lack of response to glucocorticoids and IVIG therapy. Remarkably, rituximab treatment led to rapid improvement in muscle strength and symptoms, highlighting its potential effectiveness in refractory cases of polymyositis. Conclusions: Primary treatment for cases of polymyositis typically involves the use of glucocorticoids. However, approximately half of the patients do not respond adequately to corticosteroids alone. Alternatives, in such cases, encompass IVIG therapy and rituximab.

A case of hypertensive crisis following administration of nonionic low molecular weight contrast in hemorrhagic stroke patient: a case report.

Introduction: Radiocontrast agents can be iodinated or noniodinated. Iodinated agents are further divided into low and high molecular weights. In recent decades, LOCM has largely replaced the use of HOCM due to safety concerns, but an increasing number of severe side effects cases have been reported. Case presentation: A 62-year-old woman presented with acute right hemiparesis. A CT scan revealed ICH with IVH. A contrasted CTA was ordered, during which Iohexol was administered. Shortly after the injection, she developed a hypertensive crisis. She was transferred to the ICU, intubated, and given labetalol. Repeated CT scan showed increased IVH with posterior edema. Her family declined surgical intervention. Unfortunately, she died. Discussion: This represents a unique adverse effect of a low molecular weight contrast agent that has been rarely reported before, particularly in pheochromocytoma patients. Nevertheless, our patient had subtle hypertension that was revealed during hospital admission but without pheochromcytoma. Conclusion: This case represents an unusual instance of a severe adverse. It suggests that the malignant rise in blood pressure may not be catecholamine-induced.

Lung cancer masquerading as COVID-19 in a young non-smoking woman: case report.

Introduction and importance: The clinical and radiological similarities between COVID-19 and lung cancer pose diagnostic challenges, particularly in young, non-smoking individuals. Ground glass opacities (GGO) on imaging, often associated with COVID-19, can also indicate lung cancer. Distinguishing between these conditions is crucial but complex, requiring a systematic approach. Case presentation: The authors present a case of a 31-year-old non-smoking woman initially suspected of COVID-19 due to cough, dyspnea, and GGO on chest CT. Despite negative RT-PCR and inconclusive bronchial aspiration, symptoms persisted, prompting further investigation. A PET scan revealed hypermetabolic consolidation, leading to a biopsy confirming adenocarcinoma. Clinical discussion: Lung cancer can mimic COVID-19 symptoms, complicating diagnosis, especially in young, non-smoking patients. While smoking remains the primary risk factor, lung cancer in non-smokers, particularly young individuals, is increasingly recognized. GGO, commonly associated with COVID-19, should prompt consideration of malignancy, emphasizing the importance of a comprehensive differential diagnosis. Conclusion: Early detection of lung cancer in young, non-smoking individuals is vital yet challenging. Clinicians should maintain a high index of suspicion, promptly investigating persistent or worsening symptoms, even in the absence of traditional risk factors. Timely biopsy and intervention are critical for improving outcomes in this population.

Pityriasis rubra pilaris with eosinophilia in a young patient: a case report.

Introduction and importance: Pityriasis rubra pilaris is a rare inflammatory papulosquamous disorder which manifests in six clinical subtypes affecting both pediatric and adult populations. Presentation of case: A 14-year-old female presented with multiple itchy scaly lesions on her hands and legs which began as vesicles 9 days after birth. Histopathological examination confirmed the diagnosis of pityriasis rubra pilaris. Further investigations revealed significant peripheral and tissue eosinophilia. The patient was treated with oral isotretinoin, which resulted in the resolution of the lesions. Case discussion: It is a rare inflammatory papulosquamous disorder characterized by palmoplantar keratoderma and follicular papules coalescing into distinct plaques characterized by a reddish-orange hue and nonadherent flaking scales. The patients with tissue and/or peripheral eosinophilia are usually older at presentation and more likely to have multisite disease. Our patient, in contrast, is a young female which makes this case noteworthy. Conclusion: This unusual finding of eosinophilia in a young patient underscores the necessity for further research and evaluation to enhance understanding of the pathophysiology of pityriasis rubra pilaris.

Unanticipated diagnosis of Swyer syndrome: a case report.

Introduction and importance: Swyer syndrome or complete/pure gonadal dysgenesis, a rare genetic disorder, presents with a female phenotype despite a 46, XY karyotype. The case highlights the importance of early diagnosis and management in XY females to prevent gonadal malignancy and facilitate proper growth of secondary sexual characteristics of the patient by initiating hormone replacement therapy (HRT). Case presentation: A 15-year-old female presented with lower abdominal pain, seeking an investigation, ultrasonography revealed the non-visualization of the uterus. Further examination with MRI revealed a hypoplastic uterus and non-visualization of ovaries. Clinical examination and diagnostic laparoscopy along with karyotype analysis confirmed the diagnosis of Swyer syndrome, prompting bilateral Salpingo-oophorectomy and initiation of HRT after the surgery. Follow-up showed improvement in the growth of the uterus and secondary sexual characteristics. Clinical discussion: Case discussion explores into the unique clinical findings of Swyer syndrome, emphasizing the importance of differentiating it from other disorders of sex development (DSD) like Mayer-Rokitansky-Küster-Hauser syndrome and androgen insensitivity syndrome. Genetic and hormonal aspects of the condition are also explored in relation to the patient's presentation and management. Conclusion: The case highlights the significance of early diagnosis and comprehensive management of Swyer syndrome. It emphasizes the need for multidisciplinary care, including fertility counseling and psychological support, in addressing the complexities of rare genetic disorders like Swyer syndrome. The key message includes the importance of considering Swyer syndrome in cases of primary amenorrhea, the benefits of early surgical intervention, and the necessity of psychological support for patients.

Classic ear moulding technique for a lop ear deformity: case report.

Introduction and importance: Lop ear is a congenital auricular deformity (CAD) detected at birth. It can negatively impact aesthetic appearance and the mental health of both the parents and the infant. Therefore, a treatment initiated at an early age is imperative. Case presentation: A male newborn patient on his 11th week of his life presented with his mother to the Maxillofacial Prosthodontic Unit. The extraoral examination showed a pendulous upper part of the auricle covering the antihelix with no deficiencies. The newborn's hearing function was normal and no associated syndrome was identified. The patient was diagnosed with congenital unilateral lop ear (Tanzer grade II constricted ear). A non-surgical correction with a classic ear moulding device was attempted at the 11th week after birth to reshape the abnormal ear. Clinical discussion: CADs are traditionally managed by an otoplasty at age 6. Unfortunately, this option can cause many unpredictable complications, such as anaesthesia risks and under-correction. Therefore, the classic non-surgical correction of congenital auricular deformities is a non-surgical and earlier alternative to otoplasty. Moreover, many patients present at an older age; an auricular moulding device can still be a successful treatment option for these older patients. Conclusion: Classic ear moulding is an early non-surgical alternative to otoplasty for managing congenital ear abnormalities. It can be initiated as early as 6 weeks after birth. Including an ear examination as a routine in every child's immediate post-birth physical examination is crucial for early diagnosis and better outcomes.

Cystic dysplasia of the rete testis in adulthood: a case report and review of the literature.

Background: Rete testis dysplasia is a cystic anomaly arising from the rete testis presenting normally in the pediatric population. These cases usually regress spontaneously without the need for surgical intervention. There are rare, reported cases of rete testis dysplasia in adulthood, which have been managed surgically. Case presentation: A 58-year-old man presented with lower urinary tracts symptoms and found to have a slightly larger right testicle namely in the lower pole near the epididymis. Investigation was done using ultrasound of the testicles with Doppler showing an 8 mm cyst contained in 16.5×12.1 mm cystic dysplasia near the rete testis. MRI of the testicles revealed a small intratesticular cyst with adjacent band-like signals, in keeping with rete testis dysplasia. This patient was placed under surveillance and the rete testis dysplasia is stable after 6 months and will not be operated on unless progression on ultrasound is encountered. Clinical discussion: The management of cystic dysplasia of the rete testis has been evolving with time. While there have never been clear-cut guidelines on the treatment of this condition, a radical orchiectomy of the affected testicle had traditionally been the preferred treatment option. There have only been three case reports of cystic dysplasia of the rete testis in adults, none of which are known to have been managed by observation. Conclusion: In conclusion, the authors report a unique case of rete testis dysplasia being managed conservatively showing the benign features of such a pathology, which may be actively surveyed through sequential imaging.