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1.
Primary empty sella syndrome-caused rhabdomyolysis misdiagnosed as recurrent sepsis: a case report and literature review.
Yu, D, Shi, L, Zhang, X, Yang, H, Feng, J, Wang, Y
International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases. 2023;:144-146
Abstract
We reported a case of a 68-year-old man who presented with recurrent fever and multiorgan dysfunction. His significantly elevated procalcitonin and C-reactive protein levels indicated recurrent sepsis. However, no focus of infection and no pathogens were identified through a variety of examinations and tests. Although the increase of creatine kinase was less than five times the upper limit of normal value, the diagnosis of rhabdomyolysis secondary to adrenal insufficiency resulting from primary empty sella syndrome was finally made, as supported by serum myoglobin elevation, serum cortisol, and adrenocorticotropic hormone deficiency, bilateral adrenal atrophy on computed tomography, and empty sella on magnetic resonance imaging. After the glucocorticoid replacement treatment, the patient's myoglobin gradually returned to normal range, and his condition continued to improve. Rhabdomyolysis resulting from a rare cause may be misdiagnosed as sepsis in patients who present with increased procalcitonin levels.
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2.
Brown tumor of the cervical spine with primary hyperparathyroidism: A case report and literature review.
Liu, Z, Yang, H, Tan, H, Song, R, Zhang, Y, Zhao, L
Medicine. 2023;(6):e32768
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Abstract
RATIONALE Brown tumor (BT), an uncommon focal lytic bone tumor, is a non-neoplastic and reactive process caused by increased osteoclastic activity and fibroblastic proliferation in primary or secondary hyperparathyroidism. Vertebral tumor causing neural compression is relatively rare, especially in the cervical spine. PATIENT CONCERNS A 29-year-old man developed neck pain and arm radicular pain 4 months ago, with the level of serum calcium significantly higher than normal. Computed tomography scan of the cervical spine revealed an expansile lytic lesion occupying the C6 body, left pedicle, and left lamina of C5-6. DIAGNOSES Osteoclastoma according to imaging and histopathological results. INTERVENTIONS A laminectomy of C5-6 was performed. OUTCOMES One month later, he was re-hospitalized due to nausea and vomiting and the serum calcium, was still, kept at a high level. Additionally, the parathormone (PTH) was greatly higher than normal. BT with primary hyperparathyroidism due to the parathyroid tumor was considered. After the surgery of the right parathyroid gland was performed, serum calcium and PTH both decreased, and computed tomography showed good recovery. LESSONS BTs might be misdiagnosed as other giant cell tumors, thus when giant cell tumors are considered, serum calcium and PTH examination may be needed to exclude BTs.
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Ocular manifestations of mitochondrial neurogastrointestinal encephalomyopathy: A case report and literature review.
Wang, H, Ruan, G, Yang, S, Li, H, Sun, Z, Tian, B, Yan, P, Li, Y, Yang, H, Zhong, Y, et al
American journal of medical genetics. Part A. 2023;(12):2819-2824
Abstract
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder that often presents with gastrointestinal and neurological symptoms. Here we report a 33-year-old male who presented with a 16-year history of diarrhea with black stool and progressive weight loss. He complained of progressive bilateral blurred vision, upper eyelids heaviness, ocular motility impairment, and color blindness. Peripheral neuropathy, bilateral sensorineural deafness, hyperlactatemia, diabetes mellitus, hepatic steatosis, blood coagulation dysfunction, and diffuse leukoencephalopathy were detected in the systemic evaluation. Based on the novel homozygous pathogenic variant in the TYMP gene (c.1159+1G>A), he was diagnosed with MNGIE. On ophthalmic examinations, the thickness of the inner retina and ganglion cell complex significantly decreased. ERG showed diffusely decreased amplitudes. The electronegative electroretinogram, which was first reported in MNGIE, indicated a more severe inner retina impairment. The bilateral papillomacular bundle defect and central vision loss in MNGIE are consistent with classical mitochondrial optic neuropathies' features. According to the literature, pigmentary retinopathy, optic neuropathy, and abnormal pupillary reflexes are uncommon ocular features of MNGIE. This study contributes to a better understanding of ocular manifestations in MNGIE and demonstrates that MNGIE may have dyschromatopsia and an electronegative electroretinogram.
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4.
Superior mesenteric artery syndrome after colectomy: A case report and literature review.
Li, X, Tian, M, Yang, H, Liu, Y, Chen, J, Tian, H
Medicine. 2022;(35):e30427
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RATIONALE Superior mesenteric artery (SMA) syndrome, also known as Wilkie syndrome, is a rare benign disease characterized by small bowel obstruction due to compression of the third portion of the duodenum by the SMA and the abdominal aorta. However, SMA syndrome after colectomy is extremely rare, establishing a clear diagnosis and formulating a treatment plan may be challenging for surgeons. PATIENT CONCERNS A 64-year-old male with multiple colon polyposis and constipation underwent laparoscopic subtotal colectomy with cecal-rectal anastomosis. On the seventh postoperative day, he started vomiting and complained of abdominal bloating. DIAGNOSIS An upper gastrointestinal series, computed tomography scan and computed tomography angiography confirmed the diagnosis of SMA syndrome. INTERVENTIONS Gastric decompression, nasojejunal tube feeding and parenteral nutrition were performed. OUTCOMES After 3 weeks of conservative treatment, the patient showed no clinical improvement in symptoms. Subsequently, he suffered from gastrointestinal hemorrhage, deep venous thrombosis of the lower extremity and cerebral hemorrhage successively. Unfortunately, the patient eventually died. LESSONS Surgeons should be aware of the fact that SMA syndrome can occur after colectomy. Every attempt should be made to correct and avoid any predisposing factors perioperatively. Prompt diagnosis of SMA syndrome after colectomy and appropriate early intervention reduce mortality.
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MORC2 gene de novo mutation leads to Charcot-Marie-Tooth disease type 2Z: A pediatric case report and literature review.
Yang, H, Yang, S, Kang, Q, Yang, L, Liao, H, Wu, L
Medicine. 2021;(37):e27208
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RATIONALE Mutations of the MORC2 gene have most commonly been associated with autosomal-dominant Charcot-Marie-Tooth disease type 2Z (CMT 2Z), while the impact of MORC2 mutations in CMT 2Z on neuronal biology and their phenotypic consequences in patients remain to be clarified. PATIENT CONCERNS We reported a 27-month-old child with a developmental lag of more than 1 year. He had progressive fatigue for 4 months, accompanied by dysphagia, choking while eating, and progressive aggravation. A genetic study revealed a de novo variant of MORC2, which has not yet been reported. DIAGNOSIS According to the child's clinical manifestations, genetic pattern, and American College of Medical Genetics and Genomics pathogenicity analysis, the patient was diagnosed with CMT 2Z caused by MORC2 gene mutation. INTERVENTIONS Mitochondrial cocktail therapy (arginine, vitamin B1 tablets, vitamin B2 tablets, coenzyme Q10 capsules, L-carnitine oral liquid, idebenone tablets, etc) was given. OUTCOMES Mitochondrial cocktail therapy did not significantly improve the child's condition, head magnetic resonance imaging lesions were not significantly improved at outpatient follow-up more than 1 month later, and the lesions were basically unchanged. LESSONS The clinical manifestations of the disease were similar to those of Leigh syndrome, and they were not significantly improved by cocktail therapy. This site has not been reported in the literature domestically or abroad, and the pathogenesis of CMT 2Z caused by this site mutation is indeed not related to mitochondrial dysfunction. Our study is helpful for clinicians with regard to the differential diagnosis of Leigh syndrome and CMT 2Z and improvement of clinicians' understanding of CMT 2Z disease.
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A pediatric case report and literature review of facioscapulohumeral muscular dystrophy type1.
Xiao, T, Yang, H, Gan, S, Wu, L
Medicine. 2021;(47):e27907
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RATIONALE Early-onset facioscapulohumeral muscular dystrophy (FSHD) is defined as facial weakness before the age of 5 and shoulder weakness before the age of 10. Early-onset facioscapulohumeral muscular dystrophy is relatively rare in the clinic. This onset is relatively early, the symptoms are serious, and it is likely to be accompanied by retinal vascular disease, sensorineural deafness, epilepsy and other extramuscular multisystem diseases. We report the clinical characteristics of 2 patients with early-onset facial and shoulder brachial muscular dystrophy to improve clinicians' understanding of this particular condition. PATIENT CONCERNS We report 2 pediatric patients with FSHD type 1. Patient 1 is an 11-year-old boy with reduced facial expression for 9 years and proximal muscle weakness for 6 years. Patient 2 is a 4-year and 6-month-old girl with developmental delay for 3 years and facial weakness for 1 year. DIAGNOSIS According to the clinical manifestations and molecular genetic testing (such as Southern blot analysis), the patients were diagnosed with early-onset FSHD1. INTERVENTIONS The patients received cocktail therapy (vitamin B1 tablets, vitamin B2 tablets, vitamin B6 tablets, vitamin C tablets, vitamin E tablets, idebenone tablets, etc.) to improve their muscle metabolism. OUTCOMES Both patients' condition did not improve after being given cocktail treatment. According to a recent follow-up, the symptoms of facial weakness and proximal muscle weakness were aggravated. LESSONS Early-onset FSHD presents early and has frequent systemic features, and it is a severe subtype of FSHD. Early identification and genetic diagnosis should be performed to improve patient prognosis.
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Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase(ECHS1) deficiency: two case reports and the review of the literature.
Yang, H, Yu, D
BMC pediatrics. 2020;(1):50
Abstract
BACKGROUND Short-chain enoyl-CoA hydratase (SCEH or ECHS1) deficiency is a rare congenital metabolic disorder caused by biallelic mutations in the ECHS gene. Clinical phenotype includes severe developmental delay, regression, dystonia, seizures, elevated lactate, and brain MRI abnormalities consistent with Leigh syndrome (LS). SCEH is most notably involved in valine catabolism. There is no effective treatment for the disease, patients may respond to dietary restriction of valine and supplementation of N-acetylcysteine . CASE PRESENTATION We describe two patients who presented in infancy or early childhood with SCEH deficiency. Both patients were shown to harbor heterozygous or homozygous variants in the ECHS1 gene, and developmental retardation or regression as the onset manifestation. Brain MRI showed abnormal signals of bilateral pallidus. Urine metabolic examination showed increased levels of 2,3-dihydroxy-2-methylbutyric acid and S-(2-carboxypropyl) cysteamine S-(2-carboxypropoxypropyl) cysteamine (SCPCM). A valine restricted diet and combined of N-acetylcysteine supplementation were utilized in the two patients. CONCLUSIONS In clinical practice, The elevated urinary 2,3-dihydroxy-2-methylbutyrate, S-(2-carboxypropyl) cysteine, S-(2-carboxypropyl) cysteine and N-acetyl-S-(2-carboxypropyl) cysteine levels might be clues for diagnosis of SCEH deficiency which can be confirmed throughGenetic sequencing of ECHS1 gene. Early cocktail therapy, valine restrictied diet and N-acetylcysteine supplementation could improve the prognosis of patients.
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A literature review and case report of severe and refractory post-colectomy enteritis.
Yang, Y, Liu, Y, Zheng, W, Zhou, W, Wu, B, Sun, X, Chen, W, Guo, T, Li, X, Yang, H, et al
BMC gastroenterology. 2019;(1):61
Abstract
BACKGROUND Ulcerative colitis (UC)-related post-colectomy enteritis is a very rare condition that is characterized by diffuse small-bowel mucosal inflammation following colectomy and could be very dangerous. In previously reported cases, corticosteroid therapy seemed to be the optimal choice for inducing remission; however, the patient studied herein presented with severe diarrhoea and hypovolemic shock and failed to achieve full remission with corticosteroid therapy. CASE PRESENTATION We describe the case of a patient with severe pan-enteritis presenting with life-threatening diarrhoea complicated with hypovolemic shock and acute kidney injury after colectomy and ileal pouch anal anastomosis (IPAA) for UC; this patient was successfully treated by ileostomy closure after failing to achieve full remission with corticosteroid therapy. Next, we review other cases of post-colectomy enteritis reported in the literature and propose a flow-chart for its diagnosis and initial treatment. CONCLUSION Post-colectomy enteritis can be dangerous, and the early awareness of this condition plays a vital role. Additionally, in patients who do not respond well to corticosteroid or immunosuppressant therapy, early closure of the ileostomy and re-establishment of the natural faecal stream could be important considerations.
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9.
Misdiagnosis of idiopathic hypoparathyroidism: A case report and literature review.
Li, L, Yang, H, Li, J, Yu, Y, Wang, F, Zhu, X, Liu, G
Medicine. 2018;(9):e9884
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RATIONALE Idiopathic hypoparathyroidism (IHP) is a rare endocrine condition, which is frequently represented by neuropsychiatric disorders. Hence, the misdiagnosis rate of the disease is rather high, especially for neurologists. PATIENT CONCERNS We reported a case of misdiagnosed, atypical IHP. In addition, the literature on IHP and the misdiagnosis published in China in the past 2 decades has been reviewed and summarized. DIAGNOSES Blood testing confirmed that parathyroid hormone (PTH) = 0 pg/mL and the final diagnosis was IHP. INTERVENTIONS AND OUTCOMES With calcium and vitamin D supplementation, the patient's myasthenia improved significantly, and muscle enzymes returned to normal gradually. One-year follow-up demonstrated that the patient's myasthenia disappeared, and the blood calcium and PTH levels were normal. In addition, the literature on IHP and the misdiagnosis published in China in the past 2 decades has been reviewed and summarized. LESSONS The misdiagnosis rate of IHP in China was high in the past 2 decades, which might be attributed to the misdiagnosis as epilepsy or mental diseases. A clinician should be able to understand the disease and emphasize the screening of high-risk population, especially for those patients with hypocalcemia, hyperphosphatemia, and increased blood creatine kinase with unknown causes or nontypical clinical symptoms.
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10.
Solitary subdural osteoma: A case report and literature review.
Yang, H, Niu, L, Zhang, Y, Jia, J, Li, Q, Dai, J, Duan, L, Pan, Y
Clinical neurology and neurosurgery. 2018;:87-89
Abstract
BACKGROUND Subdural osteomas are benign neoplasms that are rarely encountered. We report the case of a 64‑year‑old female patient with a left temporal subdural osteoma. CASE DESCRIPTION The patient presented with intermittent dizziness that first began two years earlier. Non-contrast computed tomography revealed a densely calcified left temporal extra-axial mass. Magnetic resonance imaging of the lesion revealed signal loss on T1-weighted and T2-weighted images and non-enhancement on Gadolinium enhanced T1-weighted images, and diffusion-weighted and ADC images demonstrated reduced values attributed to calcium-induced signal loss. Histologically, the lesion predominantly consisted of lamellar bone without bone marrow elements. The patient underwent stereotactic magnetic resonance imaging-guided neurosurgical resection and recovered without complication. CONCLUSIONS Subdural osteomas may not be enhanced on magnetic resonance imaging. Surgical tumourectomy can be considered for symptomatic patients with subdural osteomas.