OpenMed/multicare-articles huggingface dataset:
Congenital lumbar hernia with lumbocostovertebral syndrome: a case report and review of the literature
Authors: Ketan Vagholkar, Khojasteh Dastoor
Journal: Case Rep Pediatr (2013)

Introduction. Congenital lumbar hernia is one of the rare types of hernias. Anomalies of the ribs, spine, and muscles which constitute the lumbocostovertebral syndrome in association with congenital lumbar hernia make it the rarest of entities. In addition, a multitude of other organ systems may be involved. Case Report. A case of congenital lumbar hernia associated with lumbocostovertebral syndrome is presented in view of its rarity and diagnostic and therapeutic challenges. Discussion. Anatomical background of congenital lumbar hernia associated with various other anomalies especially of the musculoskeletal structures is discussed. All cases of congenital lumbar hernia should be investigated for other congenital anomalies. Both open and laparoscopic approaches have been described for surgical treatment. Conclusion. Open surgical intervention is the mainstay of treatment taking into consideration the technical challenges posed by distorted anatomy due to the associated congenital anomalies.
An unusual finding after adrenal surgery: a case series of adrenal schwannomas
Authors: Mehmet Kostek, Mehmet Taner Unlu, Ozan Caliskan, Nurcihan Aygun, Yalin Iscan, Ahmet Cem Dural, Ismail Cem Sormaz, Fatih Tunca, Yasemin Giles Senyurek, Mehmet Uludag
Journal: Front Surg (2023)
Keywords: adrenal glands, adrenal schwannoma, adrenalectomy, adrenocortical carcinoma, schwannoma

Adrenal schwannomas are rare benign tumors with no specific imaging and laboratory findings to diagnose preoperatively. Due to the limited number of cases in the literature, clinical, imaging, and pathological findings are presented in this study. Case 1 is a 61-year-old woman patient who has a 31-mm mass in the right adrenal gland. This mass was nonfunctional; in imaging studies, this mass had a cystic necrotic component, and high 18-fluorodeoxyglucose (FDG) uptake was seen. There was no metaiodobenzylguanidine (MIBG) uptake. Laparoscopic transabdominal right adrenalectomy was performed, and the pathology result was consistent with adrenal schwannomas. Case 2 is a 63-year-old man patient who presented with a 38-mm mass in the left adrenal gland. This mass was nonfunctional and similar to that in Case 1; this mass had a cystic component. Laparoscopic transabdominal left adrenalectomy was performed. The diagnosis of adrenal schwannoma with degeneration was revealed. Case 3 was a 72-year-old woman patient admitted to the hospital for a 125-mm left adrenal mass. Similar to Case 1, this mass also had a cystic necrotic component in imaging studies. High FDG uptake was seen, and the patient underwent conventional adrenalectomy due to the suspicion of malignancy. After pathological evaluation, a diagnosis of adrenal schwannoma was made. A main diagnostic challenge in adrenal schwannomas is the preoperative diagnosis. These masses have no pathognomonic finding or specific hormonal function. Imaging findings of these masses may increase the suspicion of malignancy, which may affect decisions for surgery and the surgical technique.
Case report: An asymptomatic mother with an inborn error of cobalamin metabolism (cblC) detected through high homocysteine levels during prenatal diagnosis
Authors: Yu-Peng Liu, Ru-Xuan He, Zhe-Hui Chen, Lu-Lu Kang, Jin-Qing Song, Yi Liu, Chun-Yan Shi, Jun-Ya Chen, Hui Dong, Yao Zhang, Meng-Qiu Li, Ying Jin, Jiong Qin, Yan-Ling Yang
Journal: Front Nutr (2023)
Keywords: asymptomatic, cblc type, homocysteinemia, methylmalonic acidemia, prenatal diagnosis
MeSH terms: Case Reports

Background:
The most common disorder of the intracellular cobalamin metabolism pathway is the combined methylmalonic acidemia and homocysteinemia, cblC type (cblC). There is a variation in its clinical spectrum ranging from severe neonatal-onset forms that are highly fatal to later-onset forms which are milder. In this study, the first case of an asymptomatic Chinese woman with a defect in congenital cobalamin (cblC type) metabolism at prenatal diagnosis due to elevated homocysteine level is identified.
Case presentation:
The proband, a male child born to a 29-year-old G1P0 mother, admitted to local hospital with feeding disorder, intellectual disability, seizures, microcephaly, as well as heterophthalmos. The level of the urine methylmalonic was elevated. Equally found were increased blood propionylcarnitine (C3) and propionylcarnitine/free carnitine ratio (C3/C0) and decreased methionine levels. The plasma total homocysteine level was elevated at 101.04 μmol/L (normal < 15 μmol/L). The clinical diagnosis of combined methylmalonic acidemia and homocysteinemia was supported. Four years later, the mother of the boy married again and came to us for prenatal diagnosis exactly 15 weeks after her last menstrual period. Subsequently, there is an increase in the amniotic fluid methylmalonate. The level of the amniotic fluid total homocysteine was marginally high. A considerably elevated amniotic fluid C3 was equally observed. In addition, there is a respective significant increase in the plasma and urine total homocysteine at 31.96 and 39.35 μmol/L. After the sequencing of MMACHC genes, it is found that the boy, a proband carried a homozygous mutation of the MMACHC at c.658_660delAAG. While the boy's mother, she carries two mutations in MMACHC: c.658_660delAAG and c.617G>A. The fetus is a carrier of the MMACHC gene. Following the administration of routine treatment, the mother remained symptom-free in the course of pregnancy, and she gave birth to a healthy boy.
Conclusion:
Variable and nonspecific symptoms characterized the cblC type of methylmalonic acidemia combined with homocysteinemia. Both biochemical assays and mutation analysis are recommended as crucial complementary techniques.
Inferior Vena Cava and Renal Vein Thrombosis Associated with Thymic Carcinoma
Authors: Vlad Teodor Berbecar, Roxana Jurubita, Marina Paraschiv, Bogdan Obrisca, Bogdan Sorohan, Gener Ismail
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Thymic tumors are rare mediastinal tumors that can present with a wide variety of symptoms. They can cause distant manifestations and are frequently associated with paraneoplastic syndromes. In our case, we describe the evolution of a 68-year-old male whose first manifestation was thrombosis of the inferior vena cava and renal veins. Thrombosis of large abdominal veins is rare, especially without being associated with any other comorbidity or risk factors.
Case report: A novel mosaic nonsense mutation of PCDH19 in a Chinese male with febrile epilepsy
Authors: Guilan Chen, Hang Zhou, Yan Lu, You Wang, Yingsi Li, Jiaxin Xue, Ken Cheng, Ruibin Huang, Jin Han
Journal: Front Neurol (2022)
Keywords: pcdh19, case report, exome sequence, febrile seizures, mosaicism
MeSH terms: Case Reports

The clinical features of the PCDH19 gene mutation include febrile epilepsy ranging from mild to severe, with or without intellectual disability, cognitive impairment, and psych-behavioral disorders, but there has been little research on males with the mosaic mutation of PCDH19. This study reported a novel, de novo, and mosaic PCDH19 nonsense mutation (NM_001184880: c.840C > A, p. Tyr280*) from a Chinese male in early middle childhood by trio whole-exome sequence (Trio-WES) and confirmed by Sanger sequence. The proportion of the mosaic mutation (c.840C > A, p. Tyr280*) in PCDH19 was 27.9% in, buccal mucosal cells, 48.3% in exfoliated cells in the urine, and 50.6% in peripheral blood of proband. He had the first onset of seizures in toddlerhood with febrile epilepsy, mild impaired cognitive psychological, and behavioral abnormalities. The electroencephalography (EEG) exhibited sharp waves and sharp slow complex waves in the bilateral parietal, occipital, and posterior temporal regions during the interictal period. Pinpoint white matter lesions in the periventricular white matter and slightly bulging bilateral ventricles appeared on cranial magnetic resonance imaging (MRI). With Depakine and Keppra he gained good control over his epilepsy. This study might expand the genotypes and broaden the spectrums.
Serum cytokine concentrations in a patient with rheumatoid arthritis on etanercept therapy who subsequently developed pneumocystis pneumonia: a case report
Authors: Masao Sato, Masao Takemura, Ryuki Shinohe, Katsuji Shimizu
Journal: Case Rep Rheumatol (2011)
MeSH terms: Case Reports

We report a rheumatoid arthritis patient who was treated with etanercept. Serum levels of tumor-necrosis-factor- (TNF-) alpha, soluble-tumor-necrosis-factor receptor- (sTNFR-) I and -II, interleukin- (IL-) 6, and IL-1 beta were measured by ELISA before and during the course of therapy. While the serum levels of IL-6 and IL-1 beta dropped rapidly following the initiation of therapy, the concentrations of TNF-alpha and sTNFR-II steadily increased to a plateau. Although significant clinical efficacy was observed, etanercept had to be discontinued when after 12 weeks of therapy the patient was found to have pneumocystis pneumonia.
Bowel perforation by crumpled paper in a patient presenting with acute abdominal pain
Authors: Alireza Bakhshaeekia, Seyed M V Hosseini, Tannaz Razmi, Alireza Shamsaeefar
Journal: Saudi J Gastroenterol (2009)
Keywords: acute appendicitis, bowel perforation, foreign body

Many of the abdominal foreign bodies are due to accidental ingestion. Our objective in this case report is to emphasize the importance of the enquiry about the foreign body in the differential diagnosis of acute abdominal pain. According to our knowledge, this is the first report of bowel perforation caused by paper ingestion. A 14-year-old boy with abdominal pain underwent exploratory laparotomy and was found to have abdominal pus and ileal perforation. A crumpled paper was found at the site of perforation. Postoperative enquiry revealed that the patient had ingested 10 crumpled papers. We highlight that recording the history is an important aspect in the management of patients with acute abdominal pain and that foreign bodies should be included in its differential diagnosis.
Vertebral osteomyelitis and epidural abscess due to Listeria monocytogenes - case report and review of literature
Authors: Olayinka Ibironke Adebolu, Jennifer Sommer, Abiodun Benjamin Idowu, Nicole Lao, Talha Riaz
Journal: J Bone Jt Infect (2022)
MeSH terms: Case Reports

We describe a case of native vertebral osteomyelitis (NVO) secondary to Listeria monocytogenes in a patient with polymyalgia rheumatica receiving chronic steroids. Treatment required surgical debridement of the epidural phlegmon and combination therapy with intravenous ampicillin and gentamicin.
Self-Evisceration of Intestines as the Initial Presentation of Schizoaffective Disorder
Authors: Stephanie Hamlin, Dana L Sharma, Anita S Kablinger
Journal: Case Rep Psychiatry (2023)
MeSH terms: Case Reports

Schizoaffective disorder is categorized by major mood episodes and symptoms of schizophrenia that include disorganized speech, delusions, paranoia, and hallucinations. It is associated with risk factors, including a history of abuse and cannabis use, and patients are typically diagnosed in adolescence and young adulthood. In this case report, we describe the unusual case of a 39-year-old male patient with undiagnosed schizoaffective disorder who self-eviscerated his intestines during an episode of psychosis. He received an emergent exploratory laparotomy with a partial colectomy. After medical stabilization and reorientation, the patient recalled a 10-year history of paranoia associated with significant cannabis use, despite otherwise functioning appropriately in society. During a two-week hospital course, his paranoia and hallucinations were remitted on olanzapine and valproic acid. In addition to discussing his presentation and recollection of the incident, we also discuss similar cases of self-mutilation in nonsuicidal patients and the relationship between cannabis use and schizophrenia spectrum disorders.
High dose interstitial brachytherapy for treatment of carcinoma of the lip as an alternative to surgery: a case report
Authors: Percy Torres-Quispe, Lissett Jeanette Fernández-Rodríguez, Yaowen Zhang, Angeles Rovirosa-Casino
Journal: Ecancermedicalscience (2021)
Keywords: brachytherapy, iridium radioisotopes, lip neoplasm, squamous cell carcinoma
MeSH terms: Case Reports

Lip cancer (LC) is the most common cancer of the oral cavity and is the second most common in the head and neck. Brachytherapy (BT) is a good treatment option for this type of cancer because it administers high doses of radiation to the target. BT has similar cure and survival rates as surgery for the same type of cancer, but it often produces more favourable aesthetic results, especially when the tumour is treated in its early stages. We present a case of a patient diagnosed with stage II lower LC who refused surgical treatment. Instead, high-dose-rate interstitial BT was performed with 192Ir. A 2-year post-treatment follow-up indicated there were neither serious complications nor recurrence of cancer during that period.
Chronic subacute bowel obstruction caused by carcinoid tumour misdiagnosed as irritable bowel syndrome: a case report
Authors: Henrietta M Wilson
Journal: Cases J (2009)

Background:
Carcinoid tumours are well-differentiated neuroendocrine tumours with secretory properties. Although fairly rare, they are the most common malignancy seen to affect the distal small bowel. Presentation is often non-specific with symptoms mimicking those of irritable bowel syndrome. Given this, the condition is often diagnosed late following disease progression, by which time the prognosis is poor.
Case presentation:
A 74 year old Caucasian lady presented with a two week history of loose stools, nausea and one episode of vomiting. This sub-acute presentation occurred on a background of a four year history of intermittent abdominal pain and bloating, previously diagnosed as irritable bowel syndrome. CT scans identified dilated loops of small bowel proximal to a spiculated mass in the region of the terminal ileum. This ileal lesion was removed at laparotomy and identified as a carcinoid tumour.
Conclusion:
This case highlights the issue of misdiagnosis of intestinal malignancy as the benign condition of irritable bowel syndrome. There have been several other references to this happenstance in the literature, and the problem is reflected in the percentage of patients with widespread disease at the time of diagnosis. Prognosis in this condition can be dramatically improved with early diagnosis, and surgical management at this stage is often curative. For this reason it is imperative to keep this differential diagnosis in the back of one's mind when assessing patients presenting with symptoms of intermittent partial bowel obstruction. The clinical presentation of this tumour, along with investigation and management of these cases, is discussed here.
Case report and literature review: Conversion surgery for initially unresectable huge retroperitoneal liposarcoma after preoperative radiotherapy
Authors: Sarah Hsin Cheng, Yen-Shuo Huang, Hsin-Hua Lee, Heng-Hsuan Yen, Ying-Pei Jhong, Tzu-Yuan Chao
Journal: Front Oncol (2023)
Keywords: adjuvant chemotherapy, conversion surgery, giant tumor, inoperable, liposarcoma, neoadjuvant radiotherapy, retroperitoneal sarcoma
MeSH terms: Case Reports

Background:
Retroperitoneal liposarcoma (RPLS) is a rare malignancy that is notorious for recurrence. Surgical resection with clean margin is the current treatment of choice. However, owing to the large retroperitoneal space, RPLSs often grow to significant sizes before being diagnosed. Neoadjuvant and adjuvant therapies have potentials to improve long term treatment outcome.
Case presentation:
A 55-year-old Han Chinese male presented to the general surgery department with a one-year history of abdominal fullness and a one-week history of palpable right inguinal mass. At first, he was diagnosed with incarcerated inguinal hernia. However, abdominal computer tomography (CT) and biopsy confirmed his final diagnosis to be retroperitoneal well-differentiated liposarcoma, cT2bN0M0, stage IIb. The tumor, which measured 44.5cm in maximum diameter, was too large for primary surgical resection. Neoadjuvant radiotherapy with 70 Gy in 35 fractions was delivered to the tumor, which shrunk the target volume from 6300 cc to 4800 cc, as observed in the middle of the radiotherapy course. The right testicular mass also received 70Gy/35Fx. Conversion surgery was performed after radiotherapy. Unfortunately, due to residual tumor, adjuvant chemotherapy consisting of AIM (ifosfamide, Mesna, and doxorubicin) and MAID (Mesna, doxorubincin, ifosfamide, and dacarbazine) regimens were administered sequentially. Afterward, debulking surgery was conducted, plus another 18 cycles of ifosfamide monotherapy when residual tumor was still seen on CT. Since the completion of ifosfamide chemotherapy, the patient has been cancer free with no evidence of tumor recurrence for more than 26 months.
Conclusion:
Despite conflicting evidence in the literature, our case supports the use of high dose neoadjuvant radiotherapy and adjuvant chemotherapy in treating large, unresectable RPLSs. It also highlights the importance of using individualized, multidisciplinary approach in achieving cure for large, unresectable rare tumors.
Arthralgia and osteolytic lesions associated with traumatic pancreatitis in a 10-year-old girl
Authors: Masayuki Obatake, Yusuke Yamane, Takayuki Tokunaga, Yasuaki Taura, Yukio Inamura, Takeshi Nagayasu
Journal: Int J Pediatr (2009)
MeSH terms: Case Reports

A case of traumatic pancreatitis with subsequent joint pain and osteolytic lesions is presented. A 10-year-old girl was admitted to our hospital with abdominal pain caused by blunt epigastric injury. She was diagnosed with traumatic pancreatitis, and multiple pancreatic pseudocysts subsequently developed. Two weeks after admission, she complained of joint pain, and MR revealed osteolytic lesions of both knee joints. On the 58th day, endoscopic transgastric pseudocyst drainage was performed. Joint pain and osteolytic lesions resolved rapidly, in parallel with the decrease in serum amylase level and pseudocyst size.
ADTKD- UMOD in a girl with a de novo mutation: A case report
Authors: Meng-Shi Li, Yang Li, Lei Jiang, Zhuo-Ran Song, Xiao-Juan Yu, Hui Wang, Ya-Li Ren, Su-Xia Wang, Xu-Jie Zhou, Li Yang, Hong Zhang
Journal: Front Med (Lausanne) (2022)
Keywords: adtkd, umod, case report, de novo mutation, genetic kidney disease
MeSH terms: Case Reports

Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD). An autosomal dominant inheritance is the general rule, but de novo UMOD mutations have been reported. It was reported that the median age of ESKD was 47 years (18-87 years) and men were at a much higher risk of progression to ESKD. Here, we reported a 13-year-old young girl with unexplained chronic kidney disease (CKD) (elevated serum creatine) and no positive family history. Non-specific clinical and histological manifestations and the absence of evidence for kidney disease of other etiology raised strong suspicion for ADTKD. Trio whole-exome sequencing confirmed that she carried a de novo heterozygous mutation c.280T > C (p.Cys94Arg) in the UMOD gene. The functional significance of the novel mutation was supported by a structural biology approach. With no targeted therapy, she was treated as CKD and followed up regularly. The case underscores the clinical importance of a gene-based unifying terminology help to identify under-recognized causes of CKD, and it demonstrates the value of whole-exome sequencing in unsolved CKD.
Pure Red Cell Aplasia due to B19 Parvovirus Infection after Autologous Stem Cell Transplantation
Authors: Panagiotis Tsirigotis, Konstantinos Girkas, Christina Economopoulou, Anthoula Bouchla, Nikolaos Papanicolaou, Panagiota Economopoulou, Sotirios Papageorgiou, Vassiliki Pappa, John Dervenoulas
Journal: Case Rep Transplant (2011)
MeSH terms: Case Reports

Parvovirus B19 is recognized as a rare cause of pure red cell aplasia (PRCA) in allogeneic stem cell (SCT) and solid organ transplant patients. We report a patient with Hodgkin's disease who developed PRCA due to parvovirus B19 after autologous SCT and who had an excellent response after treatment with gamma-globulin.
Using quantitative and analytic EEG methods in the understanding of connectivity in autism spectrum disorders: a theory of mixed over- and under-connectivity
Authors: Robert Coben, Iman Mohammad-Rezazadeh, Rex L Cannon
Journal: Front Hum Neurosci (2014)
Keywords: eeg/meg, autism spectrum disorders, coherence analysis, connectivity analysis, granger causation analysis, sloreta

Neuroimaging technologies and research has shown that autism is largely a disorder of neuronal connectivity. While advanced work is being done with fMRI, MRI-DTI, SPECT and other forms of structural and functional connectivity analyses, the use of EEG for these purposes is of additional great utility. Cantor et al. (1986) were the first to examine the utility of pairwise coherence measures for depicting connectivity impairments in autism. Since that time research has shown a combination of mixed over and under-connectivity that is at the heart of the primary symptoms of this multifaceted disorder. Nevertheless, there is reason to believe that these simplistic pairwise measurements under represent the true and quite complicated picture of connectivity anomalies in these persons. We have presented three different forms of multivariate connectivity analysis with increasing levels of sophistication (including one based on principle components analysis, sLORETA source coherence, and Granger causality) to present a hypothesis that more advanced statistical approaches to EEG coherence analysis may provide more detailed and accurate information than pairwise measurements. A single case study is examined with findings from MR-DTI, pairwise and coherence and these three forms of multivariate coherence analysis. In this case pairwise coherences did not resemble structural connectivity, whereas multivariate measures did. The possible advantages and disadvantages of different techniques are discussed. Future work in this area will be important to determine the validity and utility of these techniques.