case report

Background: The C3 glomerulopathies are a group of rare forms of glomerulonephritis with an incidence of 1-2 cases per million. It is mainly characterized by dysregulation of the alternative complement pathway. It is further classified morphologically based on electron microscopy ultrastructural findings into Dense Deposition Disease (DDD) and C3 glomerulonephritis. DDD is normally characterised by C3 Deposits. Case: We report a rare case of a young Emirati male who presented with sub nephrotic proteinuria and microscopic haematuria on routine evaluation. Renal biopsy showed features of DDD with combined C3 and C4 deposits. The retinal evaluation showed features of Drusen classically seen in DDD. Genomic study showed heterozygous mutation in c.5842G>C (p.Asp1948His) variant of uncertain significance in MYH9 gene. Discussion: C3 Glomerulopathy is a type of immune mediated disease previously classified as membranoproliferative glomerulonephritis. DDD is mainly characterised by C3 deposits in the glomerular basement Membrane. Our case has both C3 and C4d deposits, which is a rare entity. It shows the activation of both classical and alternate pathways. Conclusion: Dense deposition disease is a rare complement mediated glomerulopathy. It is characterised by C3 deposits. Dense deposition disease with combined C3 and C4d deposits is a new entity. The treatment and prognosis of such cases will be different and unique compared to the normal cases of DDD.

A fever of unknown origin (FUO) in children is usually described as a fever of at least 8 days duration with no apparent diagnosis after initial investigations, including taking medical history and preliminary laboratory assessment. Infectious diseases are the most common cause of FUO, followed by rheumatologic and neoplastic conditions. In this report, we present a case of a 15-year-old Caucasian boy with a silent past medical history, who presented at our Pediatric ER department with a three-day history of fever, fatigue, and abdominal pain with diarrhoea. Initial laboratory testing and microbiological work-up were non-significant. At hospital admission, a broad infectious diagnostic work-up was pursued, including serologies and polymerase-chain-reaction (PCR) for CMV, EBV, HAV, Parvovirus, Toxoplasma gondii and Adenovirus, all negative. Given mild splenomegaly and linfadenopathy, systemic Juvenile Idiopathic Arthritis (s-JIA) was suspected, as well as Multi-inflammatory Syndrome in Children (MIS-C), but the patient did not meet their main diagnostic criteria. Malignancy was ruled out by a negative bone marrow fine-needle aspiration cytology and whole-body PET-CT scan. On hospital day 8, Brucella was identified on a new set of blood cultures and a combined antibiotic therapy was started with IV Gentamicin plus per os Doxycycline. The patient’s general conditions rapidly improved, and both fever and diarrhoea resolved. A reassessment of the patient’s medical history before discharge revealed exposure to unpasteurized soft cheese in the weeks prior to the onset of symptoms. This case underlines the importance of taking a complete medical history, as well as a full diagnostic work-up to unveil unusual infectious etiologies behind FUO. After the preliminary negative microbiological tests, a connective tissue disease was ruled out (i.e. lack of cutaneous or articular involvement), as well as malignancy, which led to a closer evaluation for infection and the diagnosis of Brucellosis.

Background: Tuberculosis (TB) is a significant global health problem, and extrapulmonary TB can present with no specific clinical or radiographic findings. Genito-urinary TB is often associated with elevated tumor markers and can be misdiagnosed as ovarian/fallopian tube carcinomas, especially in elderly female patients, as genitourinary TB commonly affects women of reproductive age.Objective: We present a rare case of genito-urinary TB in an elderly female patient who was initially misdiagnosed with ovarian cancer with metastasis.Case presentation: An 83-year-old woman with a medical history of diabetes and hypertension presented with complaints of abdominal distension. Diagnostic imaging revealed lesions in the ovaries and omentum and tumor markers were elevated, leading to a suspicion of ovarian cancer with metastases to the omentum. The patient underwent a diagnostic laparotomy and surgical removal of ovaries, fallopian tubes, and the lesion of the greater omentum. However, no malignancy was found during the morphological evaluation. Further histopathological examination confirmed the final diagnosis of genito-urinary tuberculosis, and the patient received anti-TB drugs. The postoperative period was uneventful, and tumor marker levels decreased.Conclusion: As the clinical presentation of genito-urinary TB can mimic ovarian cancer, a histopathological examination should be performed for differential diagnosis, thereby reducing the possibility of inaccurate treatment. This case report highlights the importance of considering genito-urinary TB as a differential diagnosis in elderly female patients presenting with elevated tumor markers, abdominal distension, and suspected genital malignancy. It is crucial to carefully evaluate these cases and explore the possibility of genital TB as an alternative diagnosis, given the overlapping clinical presentation. This highlights the importance of a comprehensive diagnostic approach that includes considering TB in addition to malignancy, even in the context of elderly female patients.

Breast cancer associated with type-1 neurofibromatosis is a rare clinical entity. These patients have a higher risk of developing various types of cancers, especially tumors derived from the embryogenic neural crest, such as pheochromocytoma. This publication aims to add to the literature a rare association between Type-1 Neurofibromatosis, breast cancer, and pheochromocytoma.We present a rare case of a 51-year-old Tunisian woman with neurofibromatosis who was diagnosed with breast cancer and pheochromocytoma. The breast tumor was classified as T4b N1M0, and the discovery of the pheochromocytoma was incidental to thoracic-abdominal-pelvic CT. She underwent surgery to remove the adrenal gland and was referred to medical oncologists to receive chemotherapy for her breast cancer. Type-1 Neurofibromatosis disorder is a benign disease but can expose patients to numerous neoplasms. The challenging diagnosis at an early stage can worsen the prognosis and make medical care more difficult.

Proteinuria is an easily quantified biomarker of kidney disease and often a sign of glomerular pathology. Significant proteinuria is uncommon in cystic kidney diseases and should be further evaluated to exclude the presence of another simultaneous kidney disease. While renal biopsy is a valuable part of the diagnostic evaluation of proteinuria, careful consideration of risks and benefits is necessary before proceeding in a patient with bilateral renal cysts. We report the case of a man with Polycystic Kidney Disease (PKD) who was found to have nephrotic-range proteinuria. An ultrasound-guided kidney biopsy revealed evidence of Focal Segmental Glomerulosclerosis (FSGS), which was attributed to hyperfiltration-related injury in the context of extensive kidney cysts. Genetic testing did not reveal a cause of FSGS and showed a variant of uncertain significance in PKD1. We use this case to highlight three important issues that are applicable to patients with PKD: the role of diagnostic evaluation for proteinuria in cystic kidney disease, the feasibility of kidney biopsy despite the presence of bilateral renal cysts, and the roles and limitations of genetic testing in cystic kidney disease and FSGS.

A very unusual, interesting, and challenging case of a 24-year-old female who was born with three openings in the neck. The patient had chronic abdominal gaseous distention, recurrent abdominal pain, and constipation since early infancy. The patient presented in emergency with acute painful red, hot, and tender swelling in the left upper cervical area. Laboratory studies showed high inflammatory markers and a provisional diagnosis of abscess with a sinus was made. The patient underwent an emergency incision and drainage. Sinus recurred and a sinogram showed it to be a residual cyst in the left submandibular salivary gland. The total cyst excision was attempted with resultant recurrence and grade IV facial nerve palsy. Post-operatively recurrent infections caused by Methicillin-resistant Staphylococcus aureus (MRSA) required several courses of oral and intravenous broad-spectrum antibiotics with several hospital admissions with no resolution in sight. Subsequent ultrasound and magnetic resonance imaging showed a residual infected cyst, cutaneous sinus, and a fistula opening in the left ear canal. A diagnosis of branchial cyst type II of the first brachial cleft remnant with a fistula was established with bilateral branchial fistulas of the second branchial remnants and the associated colorectal hypoganglionosis based on radiological studies. The patient refused any further operative interventions. Therefore, the option of conservative treatment of hypoganglionosis with holobiotics consisting of prebiotics, probiotics and postbiotics, laxatives, dietary changes, lifestyle modifications, and dietary supplements started. All antibiotics were stopped. These therapies resulted in the resolution of residual first branchial remnants and recurrent MRSA infections with the improvement in the facial nerve palsy from grade V to grade III-IV together with an excellent cosmetic and functional result. The patient is doing well at follow-ups being infection-free for 18 months and repeat contrast-enhanced computed tomogram (CECT) has shown complete resolution of the residual cyst, sinus, and fistula with fibrosis.

Bone choristoma within a dermolipoma is a rare epibulbar tumor with a low prevalence. It is a benign tumor that does not usually cause discomfort or functional problems to patients who suffer from it. Its treatment is surgical and with an aesthetic purpose.We report the case of a 17-year-old patient with a bone choristoma, a tooth, within a dermolipoma.Epibulbar bone choristoma is a rare benign tumor that causes little discomfort to patients who suffer from it and is asymptomatic in most cases. Computed tomography (CT) is essential in its diagnosis and its treatment is surgical, but always due to aesthetic reasons.

Background: Wernicke encephalopathy is an acute neurological condition defined by a clinical triad of ophthalmoplegia, ataxia, and confusion. This disease is due to thiamine deficiency.Case presentation: After persistent diarrhea and vomiting, a 15-year-old boy presented up-beating nystagmus, with binocular vertical diplopia and unstable gait. An etiological workup revealed a celiac disease. Magnetic resonance imaging showed bilateral periaqueductal region lesions. Treatment and discussion: Because of suspected Wernicke’s encephalopathy, the patient was treated with thiamine replacement and significant improvement of symptoms took place. Wernicke encephalopathy is a serious medical disorder with enormous morbidity and mortality. Evaluation should include patient history with a physical and ophthalmologic examination and laboratory workup with appropriate imaging.Conclusion: Undiagnosed celiac disease can lead to malabsorption of vitamin B1 causing acute symptoms of Wernicke encephalopathy.

Penile cancer, a rare but highly morbid disease, primarily manifests as squamous cell carcinoma (PSCC) originating from the squamous cells of the glandular and preputial skin. Late-stage diagnosis is common due to social stigma, psychological barriers, and nonspecific initial symptoms, resulting in poor overall survival rates, especially in metastatic cases. This case report illustrates a 38-year-old man with advanced metastatic PSCC, showcasing severe systemic manifestations and delayed presentation of the disease. Despite aggressive treatment options, the patient opted for palliative care, succumbing to the disease months after his diagnosis. Risk factors for PSCC include HPV infection, phimosis, chronic inflammation, and lifestyle factors, with higher prevalence in regions of low socioeconomic status. The psychological and sexual burden of penile cancer is significant, impacting patients’ well-being, mental health, and quality of life. In conclusion, efforts to reduce the stigma associated with penile cancer are crucial to prompt early diagnosis and treatment initiation. Encouraging seeking medical attention for symptoms can enhance the chances of recovery and minimize the need for invasive treatments. Addressing the psychosocial impact of the disease is imperative for holistic patient care.

We describe the first individual treatment trial with D-mannose in a young girl with PIGV-CDG. PIGV-CDG belongs to the GPI anchor deficiencies leading to intellectual disability, dysmorphic features, epilepsy, and, less frequently, organ malformations. A hallmark of the GPI anchor deficiencies is the elevated serum alkaline phosphatase (AP). Our patient carried the germline homozygous PIGV variant c.1022C>A, p. (Ala341Glu), the most commonly reported pathogenic variant leading to PIGV-CDG so far. We aimed to improve the impaired enzymatic function of PIGV through elevated substrate levels by giving D-mannose orally. We monitored the clinical status, developmental progress as well as serum AP levels. Our patient experienced no side effects. Standardized developmental testing showed better developmental progress during the 21-month treatment period with D-mannose than in the 12 months following the discontinuation of treatment. The D-Mannose treatment might have had a positive effect on the development of our patient with PIGV-CDG.

Background: Apert syndrome is a type 1 acrocephalosyndactyly, a rare syndrome characterized by the presence of multiple craniosynostoses, dysmorphic facial manifestations, and syndactyly of hand and feet. It affects 1:100.00 of birth and is the second most common of syndromic craniosynostosis. Molecular genetic tests that identify the heterozygous pathogenic variant in FGFR2 genes - identical with Apert syndrome cost too high to be applicable in developing countries. Therefore, the diagnosis of Apert syndrome should be suspected from the clinical findings. Three cases from the Community of Indonesian Apert Warrior Group were collected. These series were based on medical and surgical records. We obtained the patient characteristics from the phenotypic manifestations only. Case report: We present a case of a newborn baby girl, with similar anatomical findings, such as skull shape abnormality, midface hypoplasia, intraoral disfigurement, and hands and feet deformities that resemble Apert Syndrome. Our series presents similar Apert syndrome characteristics, such as typical craniofacial dysmorphic with symmetrical syndactyly of both upper and lower extremities. These clinical findings are essential to establish an initial diagnosis of Apert Syndrome.

Background: Neonatal hypoglycemia is known to cause significant neuronal damage and poor neurodevelopmental outcomes. Consensus guidelines are lacking for the management of persistent neonatal hypoglycemia and hyperinsulinism which often requires high concentrations of dextrose and medications. Although used in the pediatric population with persistent hypoglycemia, only a few case reports are published regarding the use of Maltodextrin supplementation in persistent neonatal hypoglycemia due to transient hyperinsulinism. Objective: To audit the use of Maltodextrins in the management of persistent neonatal hypoglycemia due to transient hyperinsulinism in neonates. Audit design: A retrospective chart review (CERNER electronic data) of all cases with persistent neonatal hypoglycemia who received Maltodextrin supplementation for a period of 3½ years between July 2018 and December 2021. Results: A total of 18 neonates received Maltodextrin supplementation for neonatal hypoglycemia during the audit period. 16/18 (89%) neonates who received Maltodextrin supplementation were weaned off from intravenous dextrose within 1 week without major side effects or severe rebound hypoglycemia. Two out of 18 babies who received Maltodextrin needed Diazoxide supplementation for persistent hypoglycemia.  Conclusion: The results of our audit are promising, yet further research and randomized controlled studies are needed to systematically evaluate the findings of this audit regarding Maltodextrin supplementation for the management of neonatal hypoglycemia with transient hyperinsulinism.

Distinguishing between fibroadenomas and phyllodes tumors is a challenge in breast surgery, despite advances in both radiology and pathology. In this case report, we analyze a patient presenting with a breast mass with multiple core needle biopsy results consistent with fibroadenoma, who underwent enucleation and was found to have phyllodes tumor on final pathology, thereby requiring surgical re-excision. This case report highlights the importance of patient clinical presentation in differentiating fibroadenomas and phyllodes tumors and explores how to achieve appropriate margins upon surgical re-excision after prior enucleation of phyllodes tumor via ultrasound localization of a seroma.

Accumulated condylomas are exophytic tumors with a warty and hyperkeratosic surface due to the Human papillomavirus (HPV). Its prevalence in children is difficult to estimate due to limitations in epidemiological data. Its recurrent character is found in 30% of patients. Its management is very complex in children because of skin fragility. Circumcision is an operation consisting of the removal of part of the foreskin. This practice is done either with a simple knife or a pair of non-aseptic scissors which can be a source of contamination including HPV (Condyloma). Traditional circumcision does not seem to be reported in the literature as a mode of contamination. We report a case of genital condyloma in a child 2 years after circumcision. This is a 2-year-old male with no medical history but with a surgical history of circumcision that was brought by his parents in dermatological consultation for papular lesions accumulated on the penis. At the interrogation, we found the notion of recent circumcision performed by a tradithérapeute. The physical examination finds a good general condition. Dermatological examination reveals on the glans of multiple papules, exophitic, with warty and hyperkeratotic surface, of normal skin color. Furthermore, the physical examination of both parents was normal. The diagnosis of accumulated condyloma secondary to probable circumcision was retained before the clinical appearance of the lesions. Two electrocoagulation sessions spaced one month apart under local anesthesia were the treatment with a favorable evolution.

Background: Early-onset sarcoidosis is a rare systemic inflammatory granulomatous disease, distinguished by onset before the age of 4 and notably lacking pulmonary involvement. Unfortunately, the condition often shows clinical features similar to juvenile idiopathic arthritis, resulting in the misdiagnosis of numerous patients. This case report delves into the challenges associated with the delayed diagnosis of early-onset sarcoidosis, with a particular focus on the diagnostic methods employed to address this delayed recognition.Case presentation: A 15-year-old girl presented with a history of recurrent fever since infancy, accompanied by rash, arthritis, and joint deformity. Previously misdiagnosed with juvenile idiopathic arthritis, she underwent management with steroids and methotrexate, yielding no improvement. The diagnosis of early-onset sarcoidosis was made during adolescence based on serial examinations, comprehensive laboratory and radiological evaluations, and subsequent histopathology findings. Presently, the patient is receiving treatment with low-dose steroids and biologic therapy (Tocilizumab) and experiencing no disease progression.Conclusion: This case report underscores the importance of considering early-onset sarcoidosis in the differential diagnosis of pediatric patients exhibiting persistent arthritis from an early age. Early detection and treatment are crucial in averting complications and enhancing the overall quality of life. 

Post-stroke vocal cord paralysis is a condition much less recognized compared to dysphagia. We describe bilateral vocal cord palsy in a thirty-six-year-old man following a stroke. 

Background: Dysgerminomas, account for only 1% - 2% of all malignant ovarian neoplasms.Objective: This case report aims to present a rare occurrence of dysgerminoma in a pediatric patient, highlighting the clinical characteristics, diagnosis, and management.Case presentation: We present a case of dysgerminoma in a 12-year-old girl who presented with a three-week history of pelvic pain and progressive abdominal swelling. Physical examination revealed a distended abdomen with evident suprapubic fullness, and a palpable abdominopelvic mass measuring approximately 20 weeks in size. Imaging studies confirmed the presence of a solid heterogeneous mass originating from the pelvis. The patient underwent a right salpingo-oophorectomy without complications. Histological examination coupled with an immunohistochemical study confirmed the diagnosis of dysgerminoma. The patient had an uneventful postoperative course and was discharged without adjuvant treatment. Regular follow-up visits, physical examinations, ultrasound scans, and lactate dehydrogenase assays were initiated for monitoring. Conclusion: Prompt recognition and appropriate surgical intervention, followed by regular monitoring, are crucial for optimal outcomes in pediatric dysgerminoma cases.

Periacetabular Osteotomy (PAO) is the gold standard for the treatment of hip dysplasia or acetabular retroversion. Due to the proximity of intra-pelvic arteries, there is a risk of iatrogenic vascular injuries, which can present with a delay and should be part of the differential diagnosis of significant pain following a PAO. We present the case of a never-described vascular injury following a periacetabular osteotomy in a 25-year-old woman who presented with gluteal pain 3 weeks after surgery. A delayed diagnosis of a pseudoaneurysm of the superior gluteal artery was made and successfully treated by embolization. The lesion is most probably related to the tip of a screw or to the drilling process.

Mowat-Wilson Syndrome (MWS) is an autosomal dominant genetic syndrome caused by mutations in the ZEB2 gene. It is characterized by distinctive facial appearance, intellectual disability (ID), epilepsy, Hirschsprung disease (HSCR), and other congenital anomalies. The psychiatric symptoms, associated with MWS have rarely been reported. The following report highlights a case of schizoaffective disorder in a 24-year-old male with MWS and the challenges he encountered over his treatment course.After considering numerous diagnoses including bipolar disorder and psychosis secondary to a general medical condition, the patient was diagnosed with schizoaffective disorder. Various trials consisting of atypical antipsychotics and mood stabilizers were unsuccessful in managing his symptoms. Eventually, the patient stabilized on a medication regimen consisting of clozapine 300 mg once daily, topiramate 75 mg twice per day, and lithium 1800 mg once daily. This case report documents co-occurrence of MWS and Schizoaffective disorder.

Maternal cardiac arrests are rare but serious events where recognition and prompt initiation of resuscitation are crucial. Obesity is a common risk factor encountered in disorders of pregnancy as well as maternal cardiac arrests. Cardiac arrest algorithms should be followed with some changes to accommodate maternal and fetal health. We present a case of a 32-year-old pregnant patient who had a perimortem caesarean section due to maternal cardiac arrest.