6 research outputs found
Primary Intestinal Lymphangiectasia Presenting as Chylous Ascites in a Young Female: A Rare Case
No full textBackground: Primary intestinal lymphangiectasia (PIL) is a rare condition that occurs due to the pathological dilation of intestinal lymphatics, characterized by protein losing enteropathy, and occurs more commonly in children. Adults’ occurrence is less common, and misdiagnoses with other gastrointestinal disease is prevalent because of the overlapping and nonspecific features.
The Case: A 28-year-old female presented with recurrent abdominal distension and chylous ascites requiring therapeutic paracentesis over the past three years. Medical history was notable for 7 years of diffuse recurrent intermittent crampy abdominal pain more prominent periumbilical and at the right lower quadrant, bloating, loose stools, and weight loss, raising suspicion for Crohn’s disease, however, no supportive findings were noted on colonoscopy or histopathology, despite this, she was treated as a case of Crohn’s for a short period, but the absence of progression and the new-onset chylous ascites prompted reconsideration of the diagnosis and further investigation into alternative causes of protein-losing enteropathy and ascites.
At presentation, the patient denied fever, night sweats, diarrhea, or overt gastrointestinal bleeding. An abdominal examination showed distention with shifting dullness, consistent with ascites. Without peripheral edema, lymphadenopathy, or hepatosplenomegaly. Laboratory investigations were significant for low serum albumin level of 2.3 g/dL. Ascitic fluid was sterile, and negative for malignant cells. A PET-CT scan was ordered to exclude occult malignancy, autoimmune, inflammatory, or metabolically active conditions. Abdominal CT imaging revealed diffuse thickening of the hepatic flexure of the colon, associated mesenteric fat stranding, and lymphadenopathy (largest node 1.5 cm), in addition to moderate-volume ascites, these findings alongside the clinical picture have raised suspicion for a lymphatic telangiectasia; the patient was started on budesonide and long-acting octreotide (Sandostatin LAR 20 mg intramuscularly every 28 days). She showed clinical improvement following therapy, with reduction in abdominal distension and decreased need for paracentesis. Endoscopic evaluation (Figure 1) demonstrated multiple white plaques in the duodenum on upper endoscopy. Histopathologic examination of the duodenum and ileum was most consistent with primary intestinal lymphangiectasia and revealed lymphatic dilation with preserved villous architecture. No parasites, granulomas, dysplasia, or malignancy were noted.
Conclusion: PIL is rare in adults and can mimic other gastrointestinal disorders, leading to delayed diagnosis. Diagnosis relies on histopathologic confirmation and exclusion of secondary causes. Dietary management is the cornerstone of treatment, with adjunctive therapies reserved for refractory cases. Our patient’s diagnostic journey underscored several critical knowledge gaps that continue to challenge clinicians managing intestinal lymphangiectasia. Despite presenting clinical and biochemical features suggestive of the disease, the absence of standardized approaches to quantify lymphatic dysfunction made it difficult to objectively assess disease burden or monitor response to therapy. This case reflects broader gaps in our understanding of the disease’s natural history, particularly in adult-onset presentations, which remain poorly characterized. The clinical heterogeneity observed across patients suggests that individualized diagnostic and therapeutic strategies are urgently needed. Continued research is essential to uncover the underlying mechanisms driving variability in presentation and treatment response and ultimately guide the development of more targeted, personalized care
Aggressive Gallbladder Carcinoma in Down Syndrome Patient: A Rare Presentation
No full textBackground: Gallbladder carcinoma in individuals with Down syndrome (DS) is exceedingly rare, literature reports only a handful of cases. Risk factors include cholelithiasis, chronic inflammation, biliary helicobacter pylori colonization, chromosomal instability and cytogenetic abnormalities of chromosome 21.
The Case : A 45-year-old male with a history of Down syndrome, presented to the emergency department complaining of moderate epigastric pain for 3 days, 5 days of yellowish skin discoloration, and 2-weeks of postprandial nausea and vomiting of undigested food. There was no history of dysphagia, anorexia, bowel habit changes, or gastrointestinal bleeding. Family and drug history is unremarkable. On examination, the patient had a distended abdomen, jaundice, mild epigastric tenderness, and a palpable bulge in the right upper quadrant.
Laboratory findings over repeated evaluations revealed persistently elevated inflammatory markers, direct hyperbilirubinemia, hypocalcemia, mild anemia with decreased hematocrit level, and hypoalbuminemia. Liver and pancreatic enzymes were unremarkable. On ultrasound, moderate-to-severe ascites were noted. MRI abdomen showed a large exophytic hepatic mass (9 × 7.5 × 7.3 cm) in segment VI encasing and compressing the gallbladder, with multiple smaller hepatic lesions (0.2–2.3 cm) and enlarged multilobular speculated periportal/mesenteric lymph nodes measuring up to 4.3 cm in diameter, 3.3 cm right adrenal lesion and asymmetric thickening of the ascending colon. Findings were suspicious for metastatic malignancy with gallbladder involvement. Colonoscopy was performed and revealed grossly normal mucosa; histopathology was unremarkable.
A triphasic CT scan confirmed metastatic disease; and hyperbilirubinemia was explained by hepatocellular invasion rather than obstructive cholestasis.
Echocardiography was significant for moderate pulmonary hypertension. Histopathological exam of a core biopsy of the liver lesion revealed moderately differentiated adenocarcinoma, consistent with gallbladder carcinoma with hepatic metastases. The patient was admitted for supportive and symptomatic management. He was kept nil per os (NPO) and started on intravenous fluids, proton pump inhibitors, broad-spectrum antibiotics, analgesics, anticoagulation, and diuretics. Ursodeoxycholic acid and hydrocortisone were added later in the course. Despite escalation of therapy, the patient developed clinical deterioration with ascites and worsening jaundice, requiring transfer to the intensive care unit.
During the ICU stay, the patient received supportive medications including ranitidine, famotidine, potassium chloride, calcium gluconate, and phytomenadione (vitamin K) as part of correction of electrolyte disturbances, gastric protection, and coagulopathy management, however, after few months, the patient died.
Conclusion: Our report adds to the scarce evidence by documenting an older age at presentation, establishing histopathological confirmation, and demonstrating even more extensive systemic spread at diagnosis. This case highlights the tendency for late presentation with disseminated disease and limited therapeutic options, underscoring the aggressive course of gallbladder carcinoma in DS. Collectively, these observations reinforce the importance of maintaining a high index of suspicion in DS patients presenting with hepatobiliary symptoms and support the consideration of earlier imaging and potentially screening approaches in this high-risk population. The low number of reported cases may reflect underdiagnosis or early mortality from other conditions. Larger prospective studies are needed to clarify the true incidence, evaluate screening strategies, and improve outcomes
Characteristics of lateral-shearing nulling interferometry by use of double Fresnel rhombs
No full textNulling interferometer for directly imaging exoplanets with a segmented-mirror telescope is investigated. Lateral shearing interferometry is applied to a segmented-mirror telescope such as the Thirty Meter Telescope. Use of a pair of double Fresnel rhombs in Mach-Zehnder interferometer achieves achromatic nulling and lateral shearing simultaneously. In this paper, computer simulations of the lateral interferometry with the Fresnel rhombs in the near infrared region are carried out to analyze the effects of segmentation errors, tip-tilt errors, amplitude and optical-path difference errors on its nulling performance
Diagnostic Challenges in Maxillary Telangiectatic Osteosarcoma: A Rare Case
No full textHistologically, telangiectatic osteosarcoma is defined by blood-filled cystic spaces lined by high-grade malignant cells. This appearance leads to frequent diagnostic confusion with an aneurysmal bone cyst on both imaging and pathological examination.
Owing to its infrequency, aggressive behavior, and nonspecific clinical features, this variant poses significant diagnostic difficulties.
The Case: A 37-year-old woman presented with a rapidly enlarging right cheek swelling of 1 month\u27s duration. It is associated with fresh blood coming out of the mouth. Later she reported a further increase in the swelling size, eventually impairing eating and speech. There is no history of trauma, systemic diseases, prior malignancies, or previous surgeries apart from dental prosthetic implants. On physical examination, there was a large, firm, right cheek swelling, non-pulsatile, non-compressible, without skin changes.
Computed Tomography (CT) scan showed a heterogeneously enhancing mass lesion occupying most of the right maxillary sinus, measuring about 7x5 cm, showing few foci of calcifications compatible with detached teeth, demonstrating aggressive features such as adjacent bone erosions and destruction of the alveolar maxillary ridge inferiorly and maxillary sinus wall posteriorly. In addition to exerting mass effect upon masticator muscles, it also has medial extension into the nasal and oral cavities, displacing the tongue into the contralateral side, causing airway narrowing. The patient was assessed by the maxillo-facial surgeons, who recommended tracheostomy to secure the airways.
An initial biopsy result revealed an inconclusive, poorly differentiated malignant neoplasm, given the aggressive clinical course and inconclusive results; repeat histopathological examination and immunohistochemistry was done and revealed a highly cellular malignant neoplasm predominantly composed of atypical spindle cells, with prominent vascularity and scattered areas of lace-like osteoid matrix production by the neoplastic cells. These features, along with the immunohistochemistry test, were suggestive of a poorly differentiated malignant neoplasm showing spindle and epithelioid features, consistent with telangiectatic osteosarcoma.
The diagnosis and treatment options were discussed with a multidisciplinary team and the patient, and the plan involved chemotherapy with MAP protocol (Methotrexate + Doxorubicin + Cisplatin) followed by surgical resection.
Conclusion: Very few cases exist regarding telangiectatic osteosarcoma, which is a unique type of osteosarcoma, and its occurrence in the maxillary sinus is even rarer. The diagnostic challenge arose during clinical judgement, histopathological, and radiological examinations, and the rapid progression of our patient\u27s neoplasm during one month, causing profound impairment in swallowing and speech function and airway compromise, emphasizes the tumor\u27s aggressive potential and necessitates early recognition of such complex craniofacial cancers that require a multidisciplinary approach involving airway management, oncology assessment, and function restoration and preservation, which shapes a framework for similar scenarios, especially in resource-limited healthcare settings.
Diagnostic Performance of Fractional Excretion of Sodium for the Differential Diagnosis of Acute Kidney Injury A Systematic Review andMeta-Analysis
No full textBackground and objectives AKI is classified as prerenal, intrinsic, and postrenal. Prerenal AKI and intrinsic AKI represent the most common causes for AKI in hospitalized patients. This study aimed to examine the accuracy of the fractional excretion of sodium for distinguishing intrinsic from prerenal AKI
Acute Severe Hyponatremia following Hysteroscopic Procedure in a Young Patient: A Case Report and Review of the Literature
No full textBackground. Hysteroscopic surgery is a minimally invasive procedure used to diagnose and treat intrauterine pathologies. It
requires distension of the uterine cavity for the adequate visualization of the operative field. Glycine (1.5%) is one of the most
commonly used solutions because it is nonconductive and also has good optical properties. However, acute hyponatremia is a
critical complication that can develop after the absorption of a sufficient amount of the irrigation medium. Case Presentation. We
report a case of a 43-year-old female patient who developed acute symptomatic hyponatremia (104 mEq/L) and pulmonary edema secondary to hysteroscopic resection of leiomyoma and hastily approached with rapid sodium correction measures. Conclusion.
Multiple strategies can be taken to reduce the risk of fluid absorption and subsequent hyponatremia. Moreover, attention should
be paid to the treatment approach for patients with acute hyponatremia following hysteroscopic procedures; rapid correction of
acute hyponatremia for such patients might be safe, although there is no consensus in the literature, and further trials are needed.+e authors thank the patient for giving her consent for
publication of this case. +ey thank Dr. Amal Musleh for
doing the procedure. +ey thank Dr. Mohammad Jaradat for
his contribution to the treatment of the patient. +ey thank
the surgical team in the Red Crescent hospital
