Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.

AIMS: The aim of this study is to elucidate the aetiology and clinical features of neonatal and early-onset diabetes in a large database for pediatric diabetes patients in Ukraine. METHODS: We established a Pediatric Diabetes Register to identify patients diagnosed with diabetes before 9 months of age. Genetic testing was undertaken for 66 patients from 65 unrelated families with diabetes diagnosed within the first 6 months of life (neonatal diabetes, n = 36) or between 6 and 9 months (early-onset diabetes, n = 30). RESULTS: We determined the genetic aetiology in 86.1% of patients (31/36) diagnosed before 6 months and in 20% (6/30) diagnosed between 6 and 9 months. Fourteen individuals (37.8% of those with a genetic cause identified) had activating heterozygous variants in ABCC8 or KCNJ11. An additional 10 individuals had pathogenic variants in the INS or GCK genes, while 4 had 6q24 transient neonatal diabetes. Rare genetic subtypes (including pathogenic variants in EIF2AK3, GLIS3, INSR, PDX1, LRBA, RFX6 and FOXP3) were identified in nine probands (24.3% of solved cases), 6 of whom died. In total, eight individuals died between infancy and childhood, all of them were diagnosed before 6 months and had received a genetic diagnosis. CONCLUSIONS: In the last decade, the increased availability of comprehensive genetic testing has resulted in increased recognition of the contribution of rare genetic subtypes within pediatric diabetes cohorts. In our study, we identified a high mortality rate among these patients.

Isolated fallopian tubal torsion: Reproductive age case series.

AIM: To present our experiences in isolated fallopian tubal torsion (IFTT) case series, which are difficult to diagnose, in light of the literature. METHODS: The data of the patients diagnosed with IFTT surgically in our tertiary hospital between 2018 and 2019 were evaluated. RESULTS: Abdominal lower quadrant pain was present in all nine cases. Abdominal pain was accompanied by nausea in five of the nine cases with vomiting in four of the nine cases. Seven of the patients had pain radiating to the vagina. Only one case of IFTT was diagnosed with transvaginal ultrasonography where left tubal dilation and free fluid in the abdomen was found. Two of the nine cases were operated on with a preoperative diagnosis of IFTT. Seven cases were approached laparoscopically and two cases underwent a laparotomy. During the treatment, two of the nine cases underwent detorsion, while seven of the patients underwent a salpingectomy. CONCLUSION: IFTT is a very rare condition. Therefore, it is difficult to diagnose as it does not come to mind at first glance. Delay of the operation reduces the chance of preserving the tube.

[Masks of urogenital tuberculosis as the cause of diagnostic errors].

Urogenital tuberculosis does not have pathognomonic symptoms, so diagnostic errors are quite common. This systematic review of literature was conducted to identify the causes and estimate the incidence of erroneous diagnoses. We critically evaluated some articles in which the authors describe observations of urogenital tuberculosis as rare and unusual because they never encountered this disease, but in fact that were typical manifestations of genitourinary tuberculosis. The authors analyzed and illustrated the features of urinary tuberculosis in patients with pulmonary tuberculosis, differential diagnosis of urogenital tuberculosis and kidney cancer and male genitourinary organs, described errors in the diagnosis of urethral, testicular, penile, prostatic and epididymal tuberculosis. Urolithiasis was described as a mask and concomitant disease of urogenital tuberculosis. Really rare forms of bladder tuberculosis as the cause of diagnostic errors are described. Examples of fatal outcomes of urogenital tuberculosis are given. The authors analyzed cases of granulomatous interstitial nephritis due to tuberculosis infection and tuberculosis of the renal artery as the cause of renovascular hypertension. The most common causes of late diagnosis of urogenital tuberculosis are the absence of a typical pattern and the tendency to manifest under the guise of other diseases.

Intraosseous angio-lipo-fibroma of the mandible: Report of a rare case with review of literature.

INTRODUCTION AND IMPORTANCE: Angiolipofibroma is rare lesion with extraordinarily vascular structure, occurs within the head and neck region, typically springing up in the nasopharyngeal location, with a locally competitive efficiency. CASE PRESENTATION: Male patient, aged 25 years old was referred to oral surgeon with the aim of surgical removal of a painless lesion of the left posterior mandibular area. he has well heath without any medical history The mass was removed by the oral surgeon and subjected to histological analysis the final diagnosis was found to be an intraosseous angiolipofibroma. CLINICAL DISCUSSION: The significance of this report lies in the rarity of the presence of angiolipofibroma in the mandible and the clinical and radiographic manifestations were only a silent unilocular radiolucent lesion. Only a few cases have been published describing angiolipofibroma in the mandible. it is difficult to diagnose on clinical and radiographic features only. CONCLUSION: The definitive diagnosis is based on histological examination. The surgical treatment was enough.

A Rare Presentation of Multiple Myeloma With Spontaneous Haematoma.

Multiple myeloma (MM) typically presents with characteristic symptoms such as bone pain, hypercalcaemia, renal dysfunction, and anaemia. However, atypical presentations of MM, though rare, have been reported. These atypical presentations pose a diagnostic challenge due to their varied clinical manifestations, leading to potential delays in diagnosis and treatment initiation. We present the case of a 75-year-old woman who presented to the emergency department with a spontaneous haematoma on the dorsal aspect of her left hand and wrist. Despite lacking classical symptoms of MM, such as bone pain or renal dysfunction, laboratory investigations revealed abnormal findings, including high serum protein levels, low albumin, and abnormal immunoglobulin levels. Serum protein electrophoresis and immunotyping confirmed a diagnosis of MM, specifically the immunoglobulin-G lambda type. Additionally, urine protein electrophoresis further supported the diagnosis. Imaging studies did not show radiological evidence of myeloma. The absence of classical symptoms in our patient underscores the importance of considering MM in the differential diagnosis of atypical cutaneous presentations. Laboratory investigations, particularly serum protein electrophoresis and immunotyping, played a crucial role in establishing the diagnosis. The patient was treated with pulsed dexamethasone and plasmapheresis, followed by initiation of VCD chemotherapy protocol. Atypical presentations of MM present diagnostic challenges for clinicians. Our case highlights the importance of maintaining a high index of suspicion for MM, even in the absence of classical symptoms. Early recognition and diagnosis are essential for prompt management and improved patient outcomes. Clinicians should remain vigilant for atypical presentations of MM to ensure timely intervention and treatment initiation.

Square the Circle: Diversity of Viral Pathogens Causing Neuro-Infectious Diseases.

Neuroinfections rank among the top ten leading causes of child mortality globally, even in high-income countries. The crucial determinants for successful treatment lie in the timing and swiftness of diagnosis. Although viruses constitute the majority of infectious neuropathologies, diagnosing and treating viral neuroinfections remains challenging. Despite technological advancements, the etiology of the disease remains undetermined in over half of cases. The identification of the pathogen becomes more difficult when the infection is caused by atypical pathogens or multiple pathogens simultaneously. Furthermore, the modern surge in global passenger traffic has led to an increase in cases of infections caused by pathogens not endemic to local areas. This review aims to systematize and summarize information on neuroinvasive viral pathogens, encompassing their geographic distribution and transmission routes. Emphasis is placed on rare pathogens and cases involving atypical pathogens, aiming to offer a comprehensive and structured catalog of viral agents with neurovirulence potential.

Cutaneous metastasis of castration-resistant prostate cancer: A rare case report and review of literature.

Carcinoma prostate is the second most common malignancy in males. It starts with a relatively indolent course and maybe asymptomatic during the initial stages. However, metastasis is highly common in Carcinoma prostate. The sites of metastases include bone, lung, liver, pleura and adrenals with cutaneous metastasis being one of the rarest sites being less than 1%. In our case report we present one such rare finding of Carcinoma prostate with cutaneous metastasis.

A Case of Acute Encephalopathy After the Initiation of FOLFOX Chemotherapy in a Patient With Colon Cancer.

Acute encephalopathy is a change in the level of consciousness where the underlying etiology can be difficult to diagnose, and thus, difficult to treat, especially in the context of multi-organ diseases. We report a case of acute encephalopathy in a patient with end-stage renal disease (ESRD) on hemodialysis, chronic hypotension, and a recent diagnosis of colon cancer who presented shortly after initiation of FOLFOX, a chemotherapy regimen for treatment of colorectal cancer comprised of folinic acid (leucovorin), fluorouracil (5-FU), and oxaliplatin (eloxatin). We present a systematic approach to elucidate ambiguous causes of toxic-metabolic encephalopathy.

Clinical Features of Unrecognized Congenital Adrenal Hyperplasia Due to 17α-hydroxylase Deficiency Since Adolescence: A Case Report.

The majority of patients with congenital adrenal hyperplasia (CAH) present with a deficiency of 21-hydroxylase or 11-beta-hydroxylase, which account for 90% and 7% of cases, respectively. However, CAH due to 17α-hydroxylase deficiency (17OHD) is an extremely rare form of CAH (<1% of all CAH cases) that leads to a deficiency of cortisol and sex steroids, along with features of aldosterone excess. This is a case of a 51-year-old single female who was referred to us for the evaluation of new-onset hypertension and hypokalaemia of one-year duration. She was born out of a second-degree consanguineous marriage and reared as a female. She was diagnosed to have testicular feminization syndrome when she presented with a history of primary amenorrhea, absence of secondary sexual characteristics, and bilateral labial swellings at pubertal age. Subsequently, she underwent gonadectomy at the age of 16. Due to the presence of hypertension, metabolic alkalosis and bilaterally enlarged adrenals on CT scan, 46, XY disorders of sexual development (DSD) was considered. A karyotype confirmed the presence of 46, XY chromosomal sex, and genetic analysis revealed a mutation in the CYP17A1 gene, thus confirming the diagnosis of 17α-hydroxylase deficiency.

Rare Cutaneous Manifestations of Erdheim Chester Disease: A Case Report and Literature Review.

Erdheim Chester disease (ECD) is a rare and complex non-Langerhans histiocytic systemic disease that affects multiple organ systems, including the bones, heart, lungs, and central nervous system. Fewer than 1,000 cases have been reported in the medical literature and dermatological manifestations of the disease are rare but can provide valuable diagnostic clues for this challenging disease. The cutaneous manifestations of ECD can take many forms, including nodules, plaques, papules, and xanthomas. These lesions can occur on any part of the body and may be solitary or multiple. Cutaneous manifestations of ECD have been reported to occur in up to 20% of cases, but the true prevalence may be higher, as many cases may go undiagnosed. We present the case of a 62-year-old gentleman with a history of ECD currently on vemurafenib who presented with multiple painless subcutaneous nodules on his back after an excision biopsy under local anesthetic revealed histological features of ECD. The objective of this case report is to raise awareness of ECD and its dermatological manifestations. Further research is warranted to better understand the pathogenesis and morphology of cutaneous involvement in ECD.

Case report: Recurrent parosteal lipoma at Dr. Moewardi hospital.

Background: Parosteal lipoma is a rare and benign neoplasm originating from mature adipose tissue near the periosteum. Clinically, it is difficult to diagnose due to its similarity to the clinical manifestation of sarcoma, so imaging, histopathology, and immunohistochemistry examinations are necessary. Case presentation: A 54-year-old woman presented with lump on the right thigh that had gone through surgery eight years prior, with a diameter of 20 cm, with a partly hard and partly soft consistency, the patient was diagnosed with suspected recurrent liposarcoma. We performed wide excision and histopathological results showed a proliferation of bone cells and cartilage cells that were lobulated, surrounded by a proliferation of fat cells with no pleomorphism or immature cells. Discussion: Parosteal lipomas are neoplasms derived from adult adipose tissue, usually connected to the periosteum, and rare and benign. Two theories of pathogenesis of parosteal lipomas. (1) tumors arise from the differentiation of stem cells derived from adipose tissue, (2) the tumor is derived from secondary metaplasia of fibroblasts due to recurrent trauma, metabolic changes, or ischemia. Based on the theory, it is likely that in this case is due to the presence of differentiation of adiposa tissue due to the non-acquisition of a history of trauma. Conclusion: Parosteal lipoma is a rare case of benign neoplasm, which is difficult to diagnose clinically due to its similar sarcoma, thus requiring imaging and histopathological examination. The treatment of choice is wide excision by taking the entire tumor to prevent a recurrence.

A rare case of ureteral tuberculosis mimicking a tumor.

Isolated ureteral involvement in urogenital tuberculosis is rare. The diagnosis can be difficult to evoke. The radiological aspect often evokes tumor involvement, hence the importance of mentioning this pathology in endemic countries. The purpose of this study is to show that it will be necessary to think of ureteral tuberculosis in the presence of ureteral thickening living in an endemic country. We reported a case of ureteric tuberculosis in a 46-years old man mimicking a tumor.

Adult-Onset Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) in a Patient Without Significant Family History.

This case reports a 53-year-old Caucasian female previously diagnosed with viral encephalitis and Fahr's Syndrome who presented with altered mental status. Shortly after arrival, she displayed severe lactic acidosis and was transferred to the intensive care unit (ICU), where she had a brief seizure. Neurological workup was performed including carotid ultrasound, magnetic resonance angiography (MRA) brain, and computed tomography (CT) angiogram of the neck, all of which were unremarkable. Initial magnetic resonance imaging (MRI) performed showed small, acute ischemic foci in the bilateral occipital lobes and medial left thalamus. Subsequent diffusion-weighted imaging (DWI) MRI of the bilateral occipital lobes showed vasogenic edema, a common finding in Mitochondrial Encephalopathy, Lactic Acid, and Stroke-like episodes (MELAS). The patient was given Levetiracetam and managed supportively. She was progressively extubated and her seizure symptoms and lactic acidosis resolved. Our case represents a unique case in which a patient with non-contributory family history is first diagnosed with MELAS after age 40 after her symptoms were initially attributed to other pathologies.

Genital self-mutilation: A challenging pathology (Review).

Genital self-mutilation is a pathology that leads to numerous and important discussions, rarely presented in the medical literature. There have been many attempts to explain the reasons behind these medical phenomena, but single cases have been generally reported, making it extremely difficult to draw valid conclusions. It is acknowledged that there are psychotic and non-psychotic causes, from psychiatric problems and sexual identity disorders to cultural or religious reasons, alcohol or recreational drug consumption, unconventional types of sexual satisfaction or self-satisfaction. Recent theories consider self-mutilation as a phenomenon of reducing distress or tension, as an expression of feelings of anger or sorrow. It is believed that 55-85% of those who have resorted to self-mutilation have at least once in their life tried to commit suicide. There is evidence that early discovery and intervention as well as proper treatment in regards to psychosis can significantly reduce the number of self-mutilation episodes, with a protective role of these individuals. Cases of genital self-mutilation may be considered real medical emergencies, sometimes extremely challenging and accompanied by severe complications. Injury of the genital area is usually accompanied by numerous early or long-term complications due to the marked vascular area and to the microbial flora present in this part of the body. The degree of mutilation is an unforeseen aspect that the medical staff may have to encounter during the intervention, sometimes testing their imagination and surgical skills when dealing with such a case. Understanding the causes of these self-aggressive behaviors, which may be life-threatening, is critical and multidisciplinary mobilization is needed after treatment of the acute phases. The outcome of these patients depends on integrated collaborative work. These cases represent a serious reason for frustration for the physicians involved in solving them, and knowledge of these issues is valuable to urologists, psychiatrists and other health professionals.

Solid Pseudopapillary Neoplasm of the Uncinate Process of the Pancreas: A Case Report and Review of the Literature.

Solid pseudopapillary neoplasm (SPN) is a rare pancreatic neoplasm that accounts for 1-3% of all pancreatic tumors. SPNs are most commonly found in females in their third and fourth decades of life. Even though the majority of the tumors are benign, malignant tumors have also been reported. Given its rare occurrence, it remains a clinical dilemma in gastroenterology, oncology, and pathology. It is critical to diagnose it early and differentiate it from other similar pancreatic tumors or cysts to ensure favorable patient outcomes. Advanced imaging techniques, characteristic histologic findings, and immunohistochemical analysis can help in diagnosing solid pseudopapillary tumors. Early diagnosis and surgical resection can result in a cure in most cases, and tumor recurrence is extremely rare. In this report, we present a case of a 40-year-old female patient who presented to the emergency room and was diagnosed with SPN of the pancreas.

Isolated Bladder Endometriosis in a Patient With Previous Cesarean Sections.

Urological endometriosis is rare and accounts for approximately 1% of women with endometriosis. The pathophysiology of bladder endometriosis may be divided into two different causes, namely primary and secondary. The primary form occurs spontaneously and manifests in a form of a generalized pelvic disease whereas the secondary form is thought to be iatrogenic and typically occurs after pelvic surgery such as Cesarean section or hysterectomy. We present a case report on a patient presenting with an invasive bladder mass initially thought to be from a pelvic malignancy. The final histology showed isolated bladder endometriosis. She had a significant past medical history of two previous Cesarean sections. A review of her magnetic resonance imaging (MRI) images demonstrated the presence of a Cesarean scar niche which may be linked to her bladder endometriosis. There is a need to improve awareness of the possible link between Cesarean scar niche with bladder endometriosis. This is important as it raises the clinical question of whether appropriate repair of Cesarean scar niches can prevent future complications such as bladder endometriosis which can potentially be associated with significant morbidity.

Clival Chondroid Chordoma: A Case Report and Review of the Literature.

Chordomas are rare, slow-growing, and locally aggressive malignant neoplasms derived from primitive notochord remnants. The chondroid variety represents 14% of all chordomas mainly developing in the spheno-occipital region and presenting between the third and fifth decades of life. When developing intracranially, symptoms can range from headaches and neck pain to cranial nerve neuropathies and facial numbness. We illustrate a case of an adolescent woman who presented with excruciating facial pain, otalgia, decreased visual acuity, quadriparesis, headache, nausea, and dysphagia. Radiological studies revealed a large heterogeneous mass in the spheno-occipital region with clivus destruction. Biopsy and histopathology confirmed the diagnosis. Proper identification with prompt surgical resection and adjuvant radiotherapy remains critical to prevent complications.

Restless Genital Syndrome: Case Report of a Rare Disorder from Pakistan.

Restless genital syndrome (RGS) is a newly recognized syndrome characterized by difficult to describe genital sensations, including itching, tingling, contractions, and even pain. It can be a source of distress for the patient and may lead to social withdrawal and delayed diagnosis. Many pharmacologic and non-pharmacologic treatment options have been documented in the literature. Dopamine agonists have been shown to be the most effective in symptomatic relief. We present a case of an Asian female with symptoms suggestive of RGS for 11 years before she was diagnosed who responded well to ropinirole. We discuss the pathophysiology and reasons for the delayed diagnosis.