Reports (MDPI)最新文献

Background and Clinical Significance: Overlap of diabetic ketoacidosis (DKA) and hyperosmolar hyperglycemic state (HHS) in children is a rare but life-threatening metabolic emergency. The coexistence of hyperosmolality and ketoacidosis increases neurologic vulnerability and complicates fluid and insulin management. Early identification and osmolality-guided therapy are essential to prevent cerebral edema and other complications. This case describes a 5-year-old boy with new-onset type 1 diabetes mellitus (T1D) presenting with DKA/HHS overlap two weeks after influenza vaccination-an unusual temporal association without proven causality. Case Presentation: A previously healthy 5-year-old presented with progressive polyuria, polydipsia, nocturnal enuresis, fatigue, and drowsiness. Two weeks earlier, he had received the influenza vaccine. Examination revealed moderate dehydration without Kussmaul respiration or altered consciousness. Laboratory evaluation showed glucose 45.9 mmol/L (826 mg/dL; reference 3.9-7.8 mmol/L), venous pH 7.29 (reference 7.35-7.45), bicarbonate 12 mmol/L (reference 22-26 mmol/L), moderate ketonuria, and measured serum osmolality 344 mOsm/kg (reference 275-295 mOsm/kg), fulfilling diagnostic criteria for DKA/HHS overlap. After an initial 20 mL/kg 0.9% NaCl bolus, fluids were adjusted to maintenance plus approximately 10% deficit using 0.45-0.75% NaCl according to sodium/osmolality trajectory. Intravenous insulin (approximately 0.03-0.05 IU/kg/h) was initiated once blood glucose no longer decreased adequately with fluids alone and had stabilized near 22.4 mmol/L (≈400 mg/dL). Dextrose was added when glucose reached 13.9 mmol/L (250 mg/dL) to avoid rapid osmolar shifts. Hourly neurological and biochemical monitoring ensured a glucose decline of 2.8-4.2 mmol/L/h (50-75 mg/dL/h) and osmolality decrease ≤3 mOsm/kg/h. The patient recovered fully without cerebral edema or neurologic sequelae. IA-2 antibody positivity with low C-peptide and markedly elevated HbA1c confirmed new-onset T1D. Conclusions: This case highlights the diagnostic and therapeutic challenges of pediatric DKA/HHS overlap. Osmolality-based management, conservative insulin initiation, and vigilant monitoring are crucial for preventing complications. The temporal proximity to influenza vaccination remains incidental.

Background and Clinical Significance: Annular pancreas is a rare congenital anomaly in which pancreatic tissue partially or completely encircles the duodenum, potentially causing duodenal obstruction. Clinical presentation varies from asymptomatic cases to persistent vomiting, feeding intolerance, and failure to thrive, often leading to delayed diagnosis. Case Presentation: We report a 2-year and 10-month-old girl with a long-standing history of intermittent, recurrent vomiting since the neonatal period, without growth impairment or other alarming symptoms. Initial imaging suggested proximal duodenal dilation, with suspicion for superior mesenteric artery (SMA) syndrome. Endoscopy revealed mechanical obstruction at the second portion of the duodenum. Contrast-enhanced CT confirmed annular pancreas partially encircling the duodenum. The patient underwent duodeno-duodenostomy with an uneventful postoperative course and complete resolution of symptoms. This case illustrates the diagnostic challenges of annular pancreas in older children with atypical presentations. Multimodal imaging is crucial for accurate diagnosis. Surgical bypass remains the definitive treatment, offering excellent long-term outcomes. Conclusions: Persistent or recurrent vomiting in children, even without classic signs such as bilious vomiting or failure to thrive, should prompt consideration of annular pancreas. Early recognition and timely surgical intervention can prevent prolonged morbidity and ensure normal growth and development.

Background and Clinical Significance: Granulomatosis with polyangiitis (GPA) is an ANCA-associated vasculitis that often affects the respiratory tract and kidneys, while ocular involvement is less common and may delay diagnosis. Bilateral dacryoadenitis as an initial manifestation is particularly uncommon and can obscure early recognition. Case Presentation: A 24-year-old woman presented with recurrent epistaxis, headaches, and progressive bilateral eyelid swelling. MRI showed enlarged lacrimal glands consistent with granulomatous dacryoadenitis. Over the following weeks, she developed systemic symptoms and rapidly progressive renal impairment. Serology revealed positive c-ANCA and anti-PR3 antibodies, and HRCT demonstrated pulmonary nodules and ground-glass opacities. Renal biopsy confirmed necrotizing pauci-immune crescentic glomerulonephritis. Despite treatment with glucocorticoids, cyclophosphamide, and rituximab, renal recovery was incomplete, necessitating hemodialysis. Conclusions: This case illustrates bilateral dacryoadenitis as an early sign of GPA and emphasizes the need for prompt ANCA testing and renal evaluation. Early recognition is crucial to prevent irreversible kidney damage.

Background and Clinical Significance: Tramadol-associated acute angle-closure crisis is rare and has been reported only once previously following subcutaneous administration. Acute angle closure may occur in anatomically predisposed individuals in the setting of perioperative physiological stress, with medications acting as contributory factors. Case Presentation: A 38-year-old woman developed a bilateral acute angle-closure crisis shortly after initiating oral tramadol for postoperative pain relief following an uncomplicated robotic-assisted laparoscopic hysterectomy. Within 24 h, she experienced headache, nausea, vomiting, periocular pain, and blurred vision. Ophthalmic examination revealed markedly elevated intraocular pressure (45 mmHg OD, 39 mmHg OS), corneal epithelial edema, mid-dilated pupils, and completely closed angles on gonioscopy. Prompt intraocular pressure-lowering therapy followed by bilateral Nd:YAG laser peripheral iridotomy resulted in full anatomical and functional recovery, with visual acuity returning to baseline within 48 h. Conclusions: In this case, extreme anatomical susceptibility due to significant hyperopia and very short axial lengths likely played a dominant role, with perioperative physiological factors contributing to pupillary dilation. Oral tramadol may have acted as a permissive factor lowering the threshold for angle closure rather than as a sole causative agent. Awareness of this potential association is important to facilitate early ophthalmic referral and prevent unnecessary diagnostic evaluations.

Background and Clinical Significance: Breast hemangioma is an extremely rare benign vascular tumor of the breast. Its imaging findings are nonspecific, and differentiation from malignant tumors such as encapsulated papillary carcinoma, mucinous carcinoma or angiosarcoma is often difficult. We report a case of breast hemangioma that showed slow growth over an 11-year period. Case Presentation: A woman in her 50s presented with a well-defined 11 mm mass in the upper outer quadrant of the left breast detected by ultrasonography. A core needle biopsy revealed a benign lesion, and follow-up was recommended. Eleven years later, the mass had increased to 27 mm. Magnetic resonance imaging showed high signal intensity on T2-weighted images and a fast-plateau enhancement pattern extending from the periphery to the center. Although malignancy was suspected, vacuum-assisted biopsy revealed a hemangioma. Conclusions: Breast hemangioma can show slow enlargement over a long period. Recognition of a characteristic peripheral-to-central enhancement pattern may aid in distinguishing this benign vascular lesion from malignant tumors.

Background and Clinical significance: Cowden syndrome is an autosomal dominant disorder caused by germline loss-of-function mutations in the PTEN tumor suppressor gene. It is characterized by multiple hamartomas and an increased lifetime risk of malignancies affecting the breast, thyroid, endometrium, and gastrointestinal (GI) tract. Pediatric presentations may include macrocephaly, scrotal tongue, and intellectual disability. Gastrointestinal involvement is frequent, with juvenile-like hamartomatous polyps occurring in at least half of patients and distributed throughout the GI tract, posing a risk for malignant transformation. Early diagnosis and surveillance are crucial for improving patient outcomes. Case Presentation: We report a case of a 10-year-old Caucasian female with Cowden syndrome, with a history of a malignant germ cell tumor of the ovary consisting of a yolk sac tumor and low-grade immature teratoma diagnosed at age six, and thyroidectomy at age nine. The patient has mild intellectual disability. Routine radiological surveillance revealed a right colon intraluminal mass, prompting referral for pediatric gastroenterology evaluation. Endoscopy identified multiple polyps throughout the colon, stomach, and small intestine. Polypectomy of larger lesions was performed, and histopathology confirmed juvenile-like hamartomatous polyps without dysplasia or malignancy. This case highlights the necessity of comprehensive gastrointestinal evaluation in pediatric Cowden syndrome patients. Endoscopic surveillance is essential for early detection and management of polyps. Conclusions: Given the multisystem involvement and elevated cancer risk associated with PTEN mutations, a multidisciplinary approach that includes genetic counseling, dermatologic evaluation, and ongoing oncologic monitoring is recommended. Increased awareness of gastrointestinal manifestations enables timely intervention and may reduce morbidity and mortality in this high-risk population.

Background, Clinical Significance: Anterior cruciate ligament (ACL) injuries are common, however the occurrence of concurrent gastrocnemius muscle tears is exceptionally rare. Given this, the diagnosis and management of this pattern of injury is poorly characterised, with lack of current clinically relevant classification systems and evidence-based guidelines to guide treatment. Early recognition is essential. with advanced imaging critical to guiding the diagnosis and management of patients with this pattern of injury. Case presentation: A 39 year old man presented with acute right knee swelling, pain and difficulty weightbearing following a sports-related fall. Clinical examination was suspicious for an ACL injury. Magnetic Resonance Imaging (MRI) of the knee demonstrated the disrupted and displaced ACL fibres, with extensive peri-cruciate oedema around the expected position of the ACL. It was associated with partial avulsion of the medial gastrocnemius origin and incomplete avulsion of the lateral gastrocnemius origin. The patient was referred for an urgent orthopaedics review and is currently on trial of conservative management. Conclusions: In this case report and review of the literature, we evaluate the current understanding of the complexities of combined musculoskeletal injuries and limitations of existing classifications in providing accurate diagnosis and management strategies. Given the rarity of this presentation, the case underscores the lack of evidence-based recommendations for early management, particularly in young, active individuals who are at risk of significant long-term functional impact.

Background and Clinical Significance: Superior mesenteric artery syndrome (SMAS) is a rare and often underdiagnosed cause of proximal intestinal obstruction, resulting from compression of the third portion of the duodenum between the SMA and the aorta. It typically occurs in individuals with significant weight loss due to mesenteric fat depletion. CasePresentation: We report the case of a 14.5-year-old female presented with a 6-day history of intractable vomiting and epigastric pain, on a background of intermittent vomiting over the preceding six months associated with a 7 kg unintentional weight loss, culminating in inability to tolerate oral intake. Her clinical course was complicated by a transient episode of blurred vision, numbness, and incoherent speech, initially suspected to be a neurological event. Extensive gastrointestinal and neurological investigations were inconclusive. Elevated fecal calprotectin levels raised suspicion for inflammatory bowel disease, given her family history, though endoscopy and histopathology were unremarkable. Advanced imaging ultimately demonstrated a markedly reduced aortomesenteric angle (6°) and distance (4 mm), confirming the diagnosis of SMAS. The patient was initially managed conservatively with total parenteral nutrition (TPN), achieving partial weight gain of 5 kg after 8 weeks of TPN. Due to persistent duodenal compression, surgical intervention was required. At 7-month follow-up, the patient remained symptom-free with restored nutritional status and a good weight gain. Conclusions: This case highlights the importance of considering SMAS in adolescents with chronic upper gastrointestinal symptoms and significant weight loss. Early recognition and appropriate imaging are essential to diagnosis, and timely surgical management can lead to excellent outcomes when conservative treatment is insufficient.

Background and Clinical Significance: Furuncular myiasis is a tropical parasitic skin infestation caused by dipterous fly larvae, most commonly affecting travellers to endemic regions. While returning travellers typically present with one or few lesions, extensive parasitism is rare. Increased global mobility and expanding ecological range of myiasis-causing species underscores the need for clinicians in endemic and non-endemic regions to recognise, diagnose, and manage this condition promptly. Awareness of exposure risks-including soil contact, infested clothing, and poor living conditions-is essential to reducing morbidity and preventing complications like secondary bacterial infection. Case Presentation: A healthy male in his forties returned to the UK after a month-long visit to rural Ethiopia, during which he slept on dirt floors and hung his washing on a line. He developed pruritic papular lesions that progressed to erythematous furuncles with central puncta and purulent discharge, accompanied by sensations of movement. The patient self-extracted 12 larvae in Ethiopia and subsequently sought local medical attention, receiving Albendazole, after which emerging larvae were non-motile. On UK presentation, he had 27 lesions at varying stages, 3 with signs of secondary infection. Laboratory investigations revealed elevated inflammatory markers, and wound swabs grew scanty Streptococcus pyogenes. Management included wound occlusion and systemic antibiotics. No further larvae were retrieved, precluding definitive speciation. All lesions improved over subsequent reviews. Conclusions: This case illustrates an unusually extensive presentation of presumed Cordylobia spp. myiasis in a returning traveller, highlighting potential complications following larvicidal therapy. Clinicians should maintain a high index of suspicion for myiasis in patients with compatible cutaneous lesions and relevant history. Increasing travel and shifting vector distributions make familiarity with tropical dermatoses and provision of effective safety measures essential in clinical practice.

Background and Clinical Significance: Histiocytosis encompasses Langerhans cell histiocytosis (LCH) and non-LCH, such as Erdheim-Chester disease (ECD). ECD or a mixed type of histiocytosis (LCH/ECD) may initially involve the central nervous system (CNS), resulting in a delayed diagnosis. More recently, dabrafenib and trametinib (Dab/Tra regimen) have become available in its treatment. Case Presentation: A 46-year-old woman with CNS involvement of mixed histiocytosis (BRAF V600E-positive LCH/ECD) was treated with combination therapy using a Dab/Tra regimen. At initial presentation, she exhibited central diabetes insipidus, dysarthria, and gait disturbance with mild spasticity and ataxia, requiring walking assistance even for short distances. The interval from the onset of central neurological symptoms to diagnosis of mixed histiocytosis was 4 years. The introduction of targeted therapy was 2 years later. After seven months of Dab/Tra therapy, partial neurological improvement was observed, as reflected by a decrease in the SARA score from 21/40 to 13/40 and the ICARS score from 33/100 to 28/100. However, further neurological recovery remained significantly delayed. Conclusions: We suspect that the limited improvement may be attributable to the delayed initiation of targeted therapy, in contrast to the more rapid and pronounced responses reported in cases where treatment was started earlier.