Three Siblings With a Rare Familial Hyperphosphatemia Syndrome: A Case Series.

Hyperphosphatemia familial tumoral calcinosis (HFTC) and hyperphosphatemia hyperostosis syndrome (HHS) are rare autosomal recessive disorders caused by mutations in the polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3), fibroblast growth factor 23 (FGF23), or klotho (KL) genes. They are characterized by hyperphosphatemia and recurrent episodes of bone lesions with hyperostosis and/or soft tissue calcinosis. Management options include phosphate-lowering therapies, anti-inflammatory medications, and surgical excision of the calcified masses in significantly disabled cases. We describe three cases from a consanguineous family who were found to have the same genetic mutation caused by a homozygous mutation in intron eight of GALNT3 c.1524+1 G>A (IVS8+1). The first case had a presentation similar to chronic osteomyelitis, while the second one presented with a calcified mass in her gluteal area. The third case presented with left leg pain. Being a rare disease, the findings of tumoral calcinosis/ bony abnormalities, along with elevated phosphate levels, should raise the possibility of this entity. Family history and biochemical findings can help reach the diagnosis.

Sagliker Syndrome in a Patient With Secondary Hyperparathyroidism and Chronic Kidney Disease: A Case Report From Palestine.

Sagliker syndrome (SS) is a rare complication in patients with chronic kidney disease (CKD) on prolonged dialysis due to uncontrolled secondary hyperparathyroidism (SHPT). SS manifests with a constellation of clinical manifestations, including short stature, craniomaxillofacial abnormalities, hearing loss, and neuropsychiatric disorders. This article reports a 33-year-old male patient with CKD who complained of progressive disfiguring facial changes, multiple recurrent fractures, and shortened height. The condition affects his quality of life. On workup, his lab results showed highly elevated serum levels of parathyroid hormone, alkaline phosphatase (ALP), calcium, and phosphate. His comorbidities and poor health status limit his ability to do parathyroidectomy (Ptx). A reliable diagnostic approach must be considered, enabling physicians to make earlier interventions and get better outcomes.

Bilateral renal angiomyolipoma with left renal artery aneurysm in tuberous sclerosis: case report and literature review.

Introduction and importance: Tuberous sclerosis disorder (TSD) is a rare genetic disease that causes abnormal growths or tumors in various organs of the body. They are usually benign and asymptomatic. However, severe, rapidly growing tuberous sclerosis can be fatal. Renal angiomyolipomas are commonly associated with TSD, which can be further worsened by the presence of aneurysms and put the patient at risk for life-threatening hemorrhage. Case presentation: A 29-year-old female presented to the emergency room complaining of right flank pain with an unknown past medical history of tuberous sclerosis. The patient was suspected to have TSD as she fulfilled one of the major features of TSD required to establish a possible diagnosis. On computed tomography scan imaging, bilateral fat-density nodules were revealed in both kidneys. The largest is 7 cm in the left kidney, located at the upper pole, and was associated with a bleeding aneurysm measuring 4 cm in diameter. While the other fatty nodule was recorded at 6 cm in the right kidney at the lower pole. Clinical discussion: After evaluation, the patient was planned for diagnostic catheterization of the left kidney, through which selective angiography of the left kidney was done, and eventually, selective embolization of the branch supplying the left angiomyolipoma was performed. Conclusion: The authors finally conclude that thorough investigations, including systemic manifestations, must be taken into consideration when suspecting tuberous sclerosis, and a conservative approach must always be prioritized before taking any decision toward invasive approaches.

Kindler Syndrome Presenting as Colitis in an Infant.

Kindler syndrome (KS) is an autosomal recessive genodermatosis characterized by skin atrophy, blistering, photosensitivity, and mucosal inflammation. We present a unique case of KS with early and severe neonatal onset in a two-month-old female who presented with severe failure to thrive (FTT) and chronic diarrhea since birth. The infant also had multiple fluid-filled cysts on her foot since birth, which resolved and reappeared at different sites. Anemia, hyponatremia, and coloboma of the right iris were also observed. Whole exome sequencing revealed a homozygous mutation in the FERMT1 gene, confirming the diagnosis of KS. Our case demonstrates a distinct clinical phenotype involving severe colitis and FTT in addition to the typical skin manifestations of KS. This atypical presentation highlights the need for further investigations to gain insights into the impact of the kindlin-1 defect on organs beyond the skin and to explore potential therapeutic approaches for managing severe colitis in affected patients.

Duodenal Hemangioma as a Rare Cause of Gastrointestinal Bleeding: A Case Report and Literature Review.

Duodenal hemangiomas are benign vascular tumors caused by haphazard vascular proliferation within the duodenal wall. Although rare, duodenal hemangiomas could lead to rapidly progressive life-threatening gastrointestinal (GI) bleeding that requires urgent intervention. The diagnosis of duodenal hemangioma often requires direct visualization of the lesion either endoscopically or surgically, as well as histopathological examination. Treatment options include endoscopic resection, laser coagulation, sclerotherapy, or in a specific subset of patients, open or laparoscopic surgical intervention. We herein report a case of a 46-year-old female presenting with signs and symptoms of chronic GI bleeding. The patient underwent upper endoscopy and was found to have an ulcerated mass in the proximal duodenum consistent with the diagnosis of duodenal hemangioma. This case highlights the importance of including duodenal hemangioma in the differential of upper GI bleeding. It also underscores the significance of surgical intervention in treating duodenal hemangioma, as well as the crucial role of employing endoscopy in the diagnostic and therapeutic management of this condition.

Polyarteritis nodosa in a patient with chronic hepatitis B following COVID-19 vaccination: a case report.

Different types of vasculitis have been reported after various vaccine administrations. Recently, the coronavirus disease 2019 (COVID-19) vaccine was one of the most common vaccine-induced vasculitis. Herein, we describe a 56-year-old male patient with chronic hepatitis B who presented with abdominal pain for 2 days, which was associated with vomiting and bloody diarrhea. He had a history of petechial rash for 25 days, multiple joint pain and lower limb weakness after the second dose of the COVID-19 vaccine. A skin biopsy showed medium-sized vessel vasculitis. Polyarteritis nodosa (PAN) was diagnosed depending on the American College of Rheumatology criteria. He was treated with steroids, plasmapheresis and antiviral medication with a good prognosis. In patients with a past medical history of chronic hepatitis B, the covid vaccine may be associated with an increased risk of developing a PAN, so clinicians should suspect the occurrence of this disease after COVID-19 vaccination.

Digestive hemorrhage and fever as a result of a double secondary aortoenteric fistula following the repair of a juxtarenal abdominal aortic aneurysm and an infection of the aortobifemoral bypass graft: a case report.

A double secondary aortoenteric fistula (AEF) occurs in a patient who has had significant aortic surgery and is characterized by a direct connection between the gastrointestinal (GI) tract and the aorta at two separate sites. Importance: During aortoc reconstructive surgery, the patient may present with a variety of unusual complaints, including fever and GI bleeding. These symptoms are indicative of problems, including the development of an aortoentric fistula, particularly when there is a double secondary fistula. Case presentation: The patient was admitted to the hospital due to hematemesis, melena, and high-grade fever after undergoing synthetic grafting aortobifemoral bypass (anatomical reconstruction) and partial resection of the juxtarenal abdominal aortic aneurysm. Pus discharge and a double aortoenteric fistula in unusual sites such as the second-third portion of the duodenum and caecum are visible in upper GI endoscopy and computed tomography angiography. The patient underwent a two-stage open surgery, the first stage involving aortic limb graft exclusion and extra anatomical reconstruction, and the second stage involving graft removal, fistula management, and bowel repair. Then the patient spent a few days in the surgical intensive care unit before being discharged. Clinical discussion: Primary and secondary AEF are the two categories of AEF. In patients who underwent aortic reconstruction surgery, the frequency of secondary AEF ranges from 0.36 to 1.6%. Due to the 8:1 injury ratio in the secondery AEF, men suffer more injuries than women.There are two types of fistula depending on whether or not the suture line is involved. The first form is graft enteric erosion, which excludes the suture line, while the second type is entric graft fistula, where the suture line is included. Most common site fistula is third and fourth part of duodenum and least common site is fistula formation in large bowel. Conclusions: An uncommon complication is double secondary AEF following aortic reconstruction surgery. Since one of the most significant presentations an AEF patient can present with is major GI bleeding and sepsis, A delay in seeking immediate medical treatment could result in the patient's death. It should be emphasized that one of the mechanisms for AEF formation and a frequent cause of sepsis in patients is recurrent aortic graft infection following aortic reconstruction surgery.

Tumor Genesis Syndrome Presenting as Severe Hypophosphatemia in a Patient With T-Cell Acute Lymphoblastic Leukemia.

Tumor lysis syndrome (TLS) is a medical emergency that can develop in leukemias and lymphomas as a first presentation or after the initiation of anti-neoplastic regimens. On the other hand, tumor genesis syndrome (TGS) is a rare condition associated with certain malignancies, especially those with a high neoplastic burden characterized by rapid proliferation, leading to avid uptake of phosphorus from the serum and culminating in hypophosphatemia. Interestingly, a combination of TLS and TGS can occur simultaneously in a subset of patients. This leads to the development of hypophosphatemia instead of the hyperphosphatemia commonly associated with TLS. We herein present a case of severe asymptomatic hypophosphatemia in a patient with an incidental finding of T-cell acute lymphoblastic leukemia. The patient was initially diagnosed with TLS with hypophosphatemia, but further investigation revealed that the patient had isolated TGS.

The applicability of Boston Carpal Tunnel Questionnaire as a screening tool for carpal tunnel syndrome among potential high-risk female population in the West Bank: a cross-sectional study.

Carpal tunnel syndrome (CTS) is an entrapment neuropathy with a high level of morbidity if neglected. Boston Carpal Tunnel Questionnaire (BCTQ) was designed to track patients' progress after diagnosis. However, few studies showed that this questionnaire might be applicable as a screening tool for CTS. Objective: This study aims to identify the ability of BCTQ to detect symptoms and functional limitations of CTS among the potential high-risk population. Materials and Methods: This study is a cross-sectional study involving 366 females, aged 30-60 years, residents of the West Bank, Palestine. Data was collected using BCTQ to assess participants' symptoms severity and functional limitations. Results: Symptoms were reported in 72.4% of participants, while functional limitations were reported in 64.2%. Very severe symptoms were found in 1.1% of the study population, and very severe functional limitations were reported in 1.4% only. BCTQ reliability testing via Cronbach alpha showed a score of 0.937 and 0.922 for symptom severity and functional limitations scales, respectively. The most common reported symptom was pain during the daytime, while the 'household chores' was the most common functional limitation. Conclusion: This study showed that many participants reported symptoms and functional limitations of CTS without a prior diagnosis. The BCTQ can potentially be used as a screening tool for middle-aged females in the West Bank, Palestine, as it showed strong applicability. However, this study could not compute the actual prevalence of CTS due to the lack of access to clinical and electrophysiological confirmation.

Health Anxiety by Proxy Disorder: A Case Report.

Health anxiety by proxy (HAP) is a newly introduced term in psychiatry to describe the anxious feelings or fear of having or acquiring a serious illness. It is often accompanied by maladaptive illness behavior in the absence of true somatic symptoms. This, in turn, entails seeking medical advice and therefore doing many unnecessary investigations in an attempt to justify these symptoms. Functional impairment may appear in HAP patients, and this indicates a pathological point. To some extent, it can be said that HAP is similar to health anxiety disorder in terms of symptomatology and items. However, it is imposed on another (usually the patients' children) instead of the patient himself. Many biopsychosocial factors are suggested to play a role in the psychopathology of HAP. Until now, there are no well-established criteria in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision (DSM-5-TR) or International Classification of Diseases 11th Revision (ICD-11) to make the diagnosis of health anxiety by proxy. Although treatment protocols are missing, it appears that patients are not responding to treatment protocols for illness anxiety disorder. This requires focusing attention on conducting studies on those patients to develop clear treatment plans to help patients. In this report, we present a 28-year-old female with constant worries about her child's health, which subsequently resulted in seeking medical advice at multiple clinics with different medical specialties. Many factors were thought to be implicated in triggering her current condition. The anxious feelings reflected negatively on the patient's life, resulting in a poor functioning status. A treatment plan was initiated with a dismal response and fluctuating course. Additionally, we discussed the initial definition and the bases that could be used to facilitate the diagnosis and management of HAP disorder.

Metastatic pulmonary adenocarcinoma after 20 years of primary pancreatic adenocarcinoma resection: A case report and literature review.

Introduction: Recurrency of Pancreatic adenocarcinoma after resection can be as high as 85%. Most of the recurrences happen within two years of pancreatic resection and may be local or present as a metastatic disease. Clinical presentation: Herein, we report a patient who presented with metastatic pulmonary adenocarcinoma after 20 years of curative resection of pancreatic adenocarcinoma. Histopathology of the pulmonary mass confirms the diagnosis as a metastatic adenocarcinoma of gastrointestinal origin. Conclusion: Despite the length of the disease-free period, lung metastasis of pancreatic cancer is the most likely diagnosis according to the clinical course, histopathology and biochemical tumor marker. Tumor marker Ca19-9 is very sensitive and reliable test to detect recurrency of pancreatic cancer even if the imaging modalities cannot detect the tumor.

Hereditary Folate Malabsorption presenting as neutropenic fever in a newborn from the first Palestinian family with the novel SLC46A1-mutation, A-case-report.

Introduction and importance: Hereditary Folate Malabsorption (HFM) is an extremely rare autosomal recessive disorder with in the existence of only 30 families world-wide. It presents with hematological, gastrointestinal, and neurological problems. Case presentation: Three-month-old-boy with a familial history of HFM presented to the clinic due to persistent fatigue, yellowish discoloration, feeding refusal, and pancytopenia. The patient received 3 packs of Red Blood Cells (RBCs). Five days after received 3 packs of RBCs, the patient presented with a fever of 38.3 Celsius with pancytopenia. The patient had low level of all immunoglobulins. He was started on broad-spectrum antibiotics. Testing for the HFM's SLC46A1 gene mutation, was positive. The patient was started on Leucovorin and Respirm. Clinical discussion: In this case, HFM presented as a neutropenic fever, hypoimmunoglobulinemia, low serum folate, elevated homocysteine, and a positive mutation on the SLC46A1. HFM has a wide-spectrum of presentations which includes hematological, neurological, immunological and gastrointestinal. Treatment involves the administration of folinic acid in either oral or intramuscular injections. Conclusion: HFM can present as neutropenic fever. High index of suspension is to be maintained when the presenting symptoms of the patients vary over a large number of systems. Genetic counseling is needed for parents when both are carrying an autosomal recessive allele.

Gallbladder lymphangioma simulating liver hydatid cyst: A case report.

INTRODUCTION AND IMPORTANCE: Gallbladder lymphangiomas are very-rare, yet benign tumors that start developing in early life. Those tumors often go unnoticed until adulthood as they grow into a larger size or a complication happens. Despite its rarity, suspicion for the diagnosis should be maintained by the physicians. CASE PRESENTATION: A 14-year-old female patient presented to the hospital complaining of right upper quadrant abdominal pain of one month duration. Physical examination showed mild upper quadrant tenderness. Serology testing for the patient only showed eosinophilia. Computed tomography showed a large non-enhancing cystic lesion attached to the gallbladder. Presumptive diagnosis of hydatid cyst was made, and the patient was treated accordingly. Histological analysis of mass showed dilated lymphatic vessels, hence the shift in diagnosis towards a lymphangioma was made. CLINICAL DISCUSSION: Gallbladder lymphangioma are usually asymptomatic, but they can present with pain, nausea and vomiting. Multiple complications had been reported including compression of the nearby structures, intra-abdominal infection, rupture, torsion or hemorrhagic transformation. Surgical removal of the mass is the treatment of choice. CONCLUSIONS: Right upper quadrant pain can be the presenting symptom of liver pathology. Histological assessment is needed to confirm the diagnosis which will show dilated lymphatic vessels.

Eosinophilic granuloma affecting the parietal bone of the skull: A case report and literature review.

BACKGROUND: The rare form and mildest variant of Langerhans cell histiocytosis is eosinophilic granuloma (EG). In the clinical presentation, EG can be monostotic, polyostotic, or can encompass many organs. The parietal bone is the most common location of the skull bones that are affected by EG. So far, there have been no reported cases of EG with skull odor as an unexplained presentation. CASE PRESENTATION: An 8-year-old girl presented with a 4 months history of a right parietal bone swelling of the skull with an offensive odor. There was no discharge and no history of vomiting or trauma. An MRI scan of the brain showed swelling with a bone lesion of the right parietal bone. Infection was the source of the swelling and the bad odor. Treatment was done by surgical excision of the lesion. CONCLUSION: EG has a variety of presentations and should be suspected when tenderness and local swelling are present. Radiography was found to be helpful in the diagnosis and surgical treatment was done to manage the case.

Pulmonary mucormycosis after renal transplantation: A case report and a literature review.

Mucormycosis is a rare fungal infection mostly encountered in immunosuppressed patients. Other major risk factors are diabetes mellitus, solid organ transplant and chronic use of glucocorticoids. Early diagnosis should be obtained as soon as possible due to the infection's aggressive behavior and high probability of dissemination. Here we present a case of pulmonary mucormycosis in a non-diabetic patient, known to have systemic lupus erythematous and had a renal transplant recently presented with shortness of breath and was treated with antibiotic as a case of chest infection with minimal improvement. Then, after full investigations, he seemed to have mucormycosis which was successfully treated with combined liposomal amphotericin B and resection of the infectious lesion.

A case of uniportal VATS thymectomy for Thymoma associated with myasthenia gravis and toxic multinodular goiter.

BACKGROUND: Thymoma is a rare neoplasm, which may be associated with autoimmune disorders, the occurrence of hyperthyroidism in the patients with thymoma is rare. CLINICAL PRESENTATION: Here we present an extremely rare case of a 56-year-old female patient who was discovered to have malignant thymoma with associated myasthenia gravis and hyperthyroidism due to toxic multinodular goiter. Our patient started to complain of difficulty breathing and swallowing, Chest CT scan was done and revealed an anterior mediastinal mass, measures about 4.1 × 3.1 × 2.2 cm with enlarged lymph node mostly representing thymoma. Complete thymectomy was performed via uniportal video-assisted thoracoscopic surgery, and the patient's postoperative recovery was uneventful. Microscopic histopathology findings corresponded to thymoma type B1. CONCLUSION: The coexistence of thymoma, MG and toxic multinodular goiter is extremely rare. MG should always be suspected in a patient with thymoma. VATS thymectomy has been increasingly used to treat thymoma as it has several advantages over open surgery.

Double-Expressor Appendiceal Burkitt's Lymphoma: A Case Report and Literature Review.

Background: Appendiceal lymphoma is a very rare entity accounting for 0.015% of all gastrointestinal lymphoma cases. Acute appendicitis is the most common presentation of primary appendix neoplasms. Burkitt's lymphoma presenting as an acute appendicitis is a rare entity with around 21% of the cases presenting as a lower iliac fossa mass. Case Presentation. A 23-year-old male was admitted to the surgical ward as a case of acute appendicitis with localized tenderness in the right iliac fossa, positive rebound tenderness, a positive Rovsing's sign, and ultrasound findings of suspected complicated appendicitis. Appendectomy was performed. Histopathological examination of the appendectomy specimen revealed a double-expressor non-Hodgkin diffuse large cell lymphoma with Burkitt's-like morphology. He was sent for chemotherapy treatment. Conclusion: Only 34 cases of Burkitt's lymphoma have been reported to present as acute appendicitis. Histological examination following appendectomy for an apparent appendicitis is essential. Furthermore, complete blood count and a computed tomography scan aid the diagnosis of lymphoma. Double-expressor lymphoma has been shown to have poor outcomes. Therefore, prompt and aggressive treatment is vital.

Gastric wall abscess: A case report and literature review.

BACKGROUND: gastric wall abscess is a rare pathology that is often hard to diagnose and is often associated with poor prognosis. Herein, we report a case of Gastric wall abscess that we managed to treat by endoscopy without the need for surgery which is the usual treatment of choice. CLINICAL DATA: a 50 years old female presented with Epigastric pain. Complete blood count revealed Leukocytosis, neutrophilia and an elevated C-reactive protein. Abdominal CT scan showed a small hypodense area with rim wall enhancement in the pyloric canal. Gastroscopy and endoscopic ultrasound guided drainage was performed and the abscess was drained, content sent for pathology evaluation. Patient was discharged home on antibiotics. CONCLUSION: Gastric wall abscess is a rare but important differential diagnosis of Epigastric pain. Endoscopic Ultrasound is the modality of choice to diagnose it. Endoscopic drainage is associated with reduced mortality and morbidity (Soga et al., 2014) [2].

Clear cell sarcoma at D12-L1 paraspinal region: A reported case and review of the literature.

BACKGROUND: Clear cell sarcoma is a very rare malignant tumor originating from neural crest cells, the tumor most commonly affects the lower limbs but there have been few cases reported to affect the trunk and para spinal area. Patients with Para spinal sarcoma have a variety of clinical presentations and a variable prognosis depending on several prognostic factors including tumor size. CASE PRESENTATION: A 14-year-old male patient presented with paraplegia for one month duration and he was diagnosed later on to have a paraspinal clear cell sarcoma at D12-L1 level. A wide local excision was made and patient was referred for oncology treatment. However, the patient came back to the same hospital after two months due to the recurrence of the tumor at the same site. CONCLUSION: Clear cell sarcoma, although rare, can affect the spine and present with weakness, paraplegia and backache. It also affects people from all age groups and can have a high metastatic rate and a high recurrence rate.