OpenMed/multicare-articles huggingface dataset:
Kidney transplantation from a living donor to a mentally disabled recipient with bilateral angiomyolipomas-A case report
Authors: Željko Vidas, Franjo Jurenec, Eva Lovrić, Marko Samardžija
Journal: Int J Surg Case Rep (2018)
Keywords: angiomyolipoma, kidney transplantation, living related donors, mentally disabled transplant recipient

Introduction:
Many centers do not perform transplantation in mentally disabled people. Our patient with progressive psychomotor developmental delay had bilateral angiomyolipomas.
Presentation of the case:
Three years ago she underwent a right nephrectomy for massive spontaneous hemorrhage. The left kidney had a large, well-vascularized angiomyolipoma ready at any moment to bleed spontaneously was functioning normally. Two renal transplantation centers in Croatia refused to transplant from the patient's donor mother. The transplantation team had concerns whether to transplant a kidney to a person unable to care for herself, about who would take complete care of the patient, including regular immunosuppressive therapy, and whether it was ethically justified to explant a functioning kidney, although affected by angiomyolipomas, from a patient who required no renal replacement therapy at the time.
Conclusion:
We presented a successful kidney transplant in a mentally disabled person, clinical and ethical justifications for such a procedure, and a four-year post-transplant evaluation. Furthermore, in our opinion, renal transplantation in the mentally challenged needs to be referred to in literature exclusively as a relative contraindication instead of an absolute one, as has been practiced to date. This would facilitate transplantation teams deciding on kidney transplantation in mentally incapacitated individuals.
F-18 FDG-PET-CT in the Diagnostic of a Late Medullary Thyroid Carcinoma Recurrence in a Patient with Follicular-Papillary Thyroid Cancer
Authors: Doina Piciu, Andra Piciu
Journal: Case Rep Endocrinol (2014)

Mixed medullary and follicular or papillary carcinoma of thyroid is an extremely rare tumor, characterized by coexistence of morphological and immunohistochemical features of both medullary carcinoma and follicular (or papillary) carcinoma. This case report describes for the first time in the indexed database a late recurrence of a medullary thyroid carcinoma initially diagnosed as follicular-papillary form, treated and monitored accordingly. After 14 years, a superior mediastinum tumor was discovered incidentally at a thorax computer tomography. The whole-body I-131 scan was negative and F-18 FDG-PET-CT showed glucose avidity of the tumor. The patient was operated on and the histology revealed medullary thyroid carcinoma. If there are no possibilities to have routinely extensive immunohistologic profiles, it is recommended to check the serum calcitonin, at least in any patient with confirmed thyroid carcinoma.
Case Report: Expressive Speech Disorder in a Family as a Hallmark of 7q31 Deletion Involving the FOXP2 Gene
Authors: Orsolya Nagy, Judit Kárteszi, Beatrix Elmont, Anikó Ujfalusi
Journal: Front Pediatr (2021)
Keywords: 7q31 deletion, foxp2, mlpa, case report, expressive speech disorder
MeSH terms: Case Reports

Pathogenic variants of FOXP2 gene were identified first as a monogenic cause of childhood apraxia of speech (CAS), a complex disease that is associated with an impairment of the precision and consistency of movements underlying speech, due to deficits in speech motor planning and programming. FOXP2 variants are heterogenous; single nucleotide variants and small insertions/deletions, intragenic and large-scale deletions, as well as disruptions by structural chromosomal aberrations and uniparental disomy of chromosome 7 are the most common types of mutations. FOXP2-related speech and language disorders can be classified as "FOXP2-only," wherein intragenic mutations result in haploinsufficiency of the FOXP2 gene, or "FOXP2-plus" generated by structural genomic variants (i.e., translocation, microdeletion, etc.) and having more likely developmental and behavioral disturbances adjacent to speech and language impairment. The additional phenotypes are usually related to the disruption/deletion of multiple genes neighboring FOXP2 in the affected chromosomal region. We report the clinical and genetic findings in a family with four affected individuals having expressive speech impairment as the dominant symptom and additional mild dysmorphic features in three. A 7.87 Mb interstitial deletion of the 7q31.1q31.31 region was revealed by whole genome diagnostic microarray analysis in the proband. The FOXP2 gene deletion was confirmed by multiplex ligation-dependent probe amplification (MLPA), and all family members were screened by this targeted method. The FOXP2 deletion was detected in the mother and two siblings of the proband using MLPA. Higher resolution microarray was performed in all the affected individuals to refine the extent and breakpoints of the 7q31 deletion and to exclude other pathogenic copy number variants. To the best of our knowledge, there are only two family-studies reported to date with interstitial 7q31 deletion and showing the core phenotype of FOXP2 haploinsufficiency. Our study may contribute to a better understanding of the behavioral phenotype of FOXP2 disruptions and aid in the identification of such patients. We illustrate the importance of a targeted MLPA analysis suitable for the detection of FOXP2 deletion in selected cases with a specific phenotype of expressive speech disorder. The "phenotype first" and targeted diagnostic strategy can improve the diagnostic yield of speech disorders in the routine clinical practice.
Olfactory ensheathing cell tumor arising from the olfactory mucosa
Authors: Eriko Ogino-Nishimura, Takayuki Nakagawa, Yoshiki Mikami, Juichi Ito
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

We report a rare case of olfactory ensheathing cell tumor. A female presented a large soft mass extending medially to the olfactory cleft and laterally to the middle meatus in the left nasal cavity. Imaging studies confirmed a cystic mass extending superiorly into the frontal lobe, indicating that the tumor arouse from the olfactory mucosa. A subtotal resection was achieved through an endoscopic endonasal approach without operative complications. Immunohistochemically constituent cells were diffusely positive for S-100 protein, but olfactory ensheathing cell tumor was diagnosed by negative staining for Leu7 (CD57). This case indicates that olfactory ensheathing cell tumor should be included in differential diagnoses for the olfactory cleft tumors.
Development of Acute Inflammatory Demyelinating Polyneuropathy 11 Days after Spinal Surgery: A Case Report and Literature Review
Authors: Eiichi Kakehi, Tadataka Kawakami, Yukiko Ishikawa, Takashi Matsuoka, Naoki Nakagawa, Tugutake Morishita, Shohei Taniguchi, Yukinobu Akamatsu, Shigehisa Sakurai, Akane Hirotani, Takafumi Nozaki, Keisuke Shoji, Seiji Adachi, Kazuhiko Kotani, Masami Matsumura
Journal: Case Rep Med (2021)
MeSH terms: Case Reports

Guillain-Barré syndrome (GBS) usually has a good prognosis; however, patients may develop sequelae without prompt treatment. We herein describe an 81-year-old woman who developed acute-onset excruciating thigh pain and weakness in her lower extremities after spinal surgery. We diagnosed acute inflammatory demyelinating polyradiculoneuropathy by a nerve conduction study, which showed findings of demyelination without cerebrospinal fluid analysis because of a spinal prosthesis. Although anti-GM1 and anti-GalNAc-GD1a antibodies were positive, the patient was clinically diagnosed with acute inflammatory demyelinating polyradiculoneuropathy (a subtype of GBS), not acute motor axonal neuropathy. She recovered well with immunoglobulin therapy. A literature review of 18 cases revealed that unexplained weakness, areflexia, and numbness of the extremities after spinal surgery, a shorter time from spinal surgery to symptom onset to general GBS, abnormal nerve conduction study results, normal spinal imaging findings, and the development of atypical symptoms such as cranial and autonomic nerve syndrome and respiratory failure are useful for diagnosing GBS when cerebrospinal fluid examination cannot be performed after spinal surgery.
Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
Authors: Neslihan Cuhaci, Cevdet Aydın, Ahmet Yesilyurt, Ferda Alpaslan Pınarlı, Reyhan Ersoy, Bekir Cakir
Journal: Case Rep Endocrinol (2015)

Objective. The most common form of congenital adrenal hyperplasia (CAH) is 21-hydroxylase (21-OH) deficiency due to mutation of the CYP21A2 gene. Patients with nonclassical CAH (NC-CAH) are usually asymptomatic at birth and typically present in late childhood, adolescence, or adulthood with symptoms of excessive androgen secretion. Subfertility is relative in NC-CAH, but the incidence of spontaneous miscarriage is higher. Here, we report a previously undiagnosed female who gave birth to a normal male child and is planning to become pregnant again. Case Report. A 32-year-old female was referred to our clinic for obesity. Her medical history revealed that she had had three pregnancies. She was planning to become pregnant again. Her laboratory results revealed that she had NC-CAH. Since her husband is the son of her aunt and she had miscarriages and intrauterin exitus in her history, their genetic analyses were performed. Conclusion. Since most patients with NC-CAH have a severe mutation, these patients may give birth to a child with the classical CAH (C-CAH) if their partner is also carrying a severe mutation. Females with NC-CAH who desire pregnancy must be aware of the risk of having an infant with C-CAH.
Skeletal Muscle Involvement in B-Cell Lymphoma: Two Cases Illustrating the Contribution of Imaging to a Clinically Unsuspected Diagnosis
Authors: Elijah Burton, Kristian Schafernak, Elaine Morgan, Jonathan Samet
Journal: Case Rep Radiol (2017)
MeSH terms: Case Reports

Skeletal muscle lymphoma is rare, comprising only a very small subset of lymphoma cases. There are characteristic imaging features which, if recognized, can prevent delay in diagnosis and treatment, particularly when not suspected clinically. Herein, we report two cases of skeletal muscle lymphoma with nearly identical imaging features; the first is an example of primary muscle lymphoma in a 17-year-old boy with back and thigh pain, and the second represents lymphoma recurrence in a 55-year-old man with HIV. Characteristic features seen on MRI were key in raising suspicion for the disease and helped prevent a delay in pathologic diagnosis.
Aggressive Recurrence of Primary Hepatic Epithelioid Haemangioendothelioma after Liver Transplantation
Authors: Qusay A Abdoh, Asma M Alnajjar, Faisal A Abaalkhail, Mohammed Al Sebayel, Hussa F Al-Hussaini, Waleed K Al-Hamoudi, Hazem Helmy, Mohamad Almansour, Hussien A Elsiesy
Journal: Can J Gastroenterol Hepatol (2016)
MeSH terms: Hemangioendothelioma, Epithelioid / surgery, Liver Neoplasms / surgery, Liver Transplantation / methods, Neoplasm Recurrence, Local / pathology, Case Reports, Adult, Fatal Outcome, Female, Hemangioendothelioma, Epithelioid / pathology, Humans, Liver Neoplasms / pathology

HEHE is a rare neoplasm of vascular origin that occurs in the liver; UNOS reported a favorable outcome after liver transplantation in 110 patients with 1-year and 5-year survival of 80% and 64%. Case Report. A 40-year-old lady presented with a three-month history of right upper abdominal pain with nausea, vomiting, and significant loss of weight associated with scleral icterus and progressive abdominal distension. Examination revealed jaundice, hepatomegaly, and ascites. Serum bilirubin was 26.5 mg/dL and ALP was 552 CT. Abdomen and pelvis showed diffuse infiltrative neoplastic process of the liver with a mass effect and stretching of the hepatic and portal veins, in addition to bile duct dilatation. Viral hepatitis markers were negative and serum alpha fetoprotein was within reference range. Liver biopsy was consistent with HEHE, with positive endothelial markers (CD31, CD34, and factor VIII-related antigen). She underwent living related liver transplantation on June 2013 and was discharged after 20 days with normal liver enzymes. Four months later, she presented with diffuse disease recurrence. Liver biopsy confirmed disease recurrence; she received supportive treatment and unfortunately she died 2 weeks later. Conclusion. HEHE can have rapid and aggressive recurrence after liver transplantation.
Primary squamous cell carcinoma of renal parenchyma: A case report and literature review
Authors: Ke Liang, Yichu Yuan, Bodong Lv, Zunjin Ke
Journal: Front Oncol (2023)
Keywords: carcinoma, pathology, prognosis, renal parenchyma, squamous cell carcinoma
MeSH terms: Case Reports

Rationale:
Primary renal parenchymal squamous cell carcinoma (SCC) is an extremely rare tumor that is difficult to diagnose by hematology and imaging studies and is often diagnosed later than other primary renal cancers.
Diagnosis:
A 52-year-old male patient was found to have cysts in both kidneys for 1 week. No urgency and frequency of urination, no dysuria, no gross hematuria, and no significant changes in recent body weight were reported.
Interventions:
The upper pole of the right kidney is a cystic and solid mass (8.3 cm * 8.2 cm * 8.1 cm), the cystic part has long T1 and long T2 signals, the solid part has mixed signals, and some parts have limited diffusion. There were nodular long T1 and short T2 calcification signals. An enhanced scan of the solid part showed uneven enhancement and continuous enhancement of the mass capsule. Cystic renal cancer was considered because of the multiple cysts in both kidneys. Surgical treatment was performed. Postoperative pathology revealed well-differentiated squamous cell carcinoma of the right kidney with cystic degeneration, 8.5 cm * 6 cm in size, infiltrating the renal parenchyma, and the cutting edge was negative. The pathological stage was pT2bN0M0.
Outcome:
At the follow-up 5 months after the operation, no metastasis was found.
Conclusion:
Renal SCC is rare and easily misdiagnosed and missed. Pathological diagnosis is still the gold standard for its diagnosis. However, with active surgical treatment, the short-term prognosis of the patient is good.
The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations
Authors: Yi Tang, Yu-Xing Liu, Yue Sheng, Liang-Liang Fan, Ai-Qian Zhang, Zhao-Fen Zheng
Journal: Front Genet (2023)
Keywords: codas syndrome, lonp1, compound heterozygote, mutation, whole-exome sequencing
MeSH terms: Case Reports

Background: CODAS syndrome (MIM 600373) is a multi-system developmental disorder characterized by cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is rare in the world and no cases have been reported in Chinese population so far. Mutations in the LONP1 gene can contribute to CODAS syndrome, while the underlying molecular mechanisms requires further investigation. Method: We described a Chinese boy who has suffered from cognition impairment, cataracts, caries, abnormal auricle and skeletal anomalies since birth. The patient's parents are non-consanguineous and healthy. Whole-exome sequencing (WES) was employed to explore the genetic entity of this family. Results: A compound heterozygous missense mutation (NM_004793: c.2009C>T/p.A670V and c.2014C>T/p.R672C) of LONP1 was identified in the patient. Considering the clinical phenotypes and genetic results, the patient was diagnosed as CODAS syndrome. Conclusion: Here we reported the first case with CODAS syndrome in Chinese population. WES identified a compound heterozygous missense mutation of LONP1 gene in the patients. Our study not only provided data for genetic counseling and clinical diagnosis to this family, but also expanded the clinical spectrum of LONP1-related CODAS syndrome.
Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)
Authors: Hanane Latrech, Houssein Madar, Ahmed Gaouzi
Journal: Case Rep Endocrinol (2018)
MeSH terms: Case Reports

Turner syndrome is a common sex chromosome disorder characterized by complete or partial absence of an X chromosome. The spectrum of its clinical features and cytogenetics are various. We report new chromosomal formula revealed by DSD and associated with translocation (13,14). To our knowledge, this is the first case of 45X, t(13;14) de novo translocation as a variation of Turner syndrome in a patient with this clinical presentation.
A spinoglenoid cyst compressing on the suprascapular nerve causing supraspinatus and infraspinatus muscle weakness: A case report
Authors: Joseph Maalouly, Dany Aouad, Antonios Tawk, Georges El Rassi
Journal: Int J Surg Case Rep (2020)
Keywords: arthroscopy, shoulder, spinoglenoid cyst
MeSH terms: Case Reports

Introduction:
Spinoglenoid cysts are a rare cause of suprascapular neuropathy of compressive etiology in which the patient may present with shoulder pain and muscle hypotrophy. MRIs are the imaging modality of choice showing location, size, and extent of the lesion for preoperative assessment. Currently, surgical intervention is the preferred approach for the management of a spinoglenoid cyst with arthroscopy being favored over the open technique.
Case presentation:
A 25-year-old male patient presenting with right posterior shoulder pain and decreased range of motion associated with the development of progressive weakness of the supraspinatus and infraspinatus muscles. Right shoulder MRI showed a posterior tear of the glenoid labrum and a spinoglenoid ganglion cyst. Preoperative electroneuromyography was suggestive of a suprascapular nerve impairment.
Follow-up:
Six months postoperatively, the patient has regained full range of motion of his right shoulder with no residue signs of muscle hypotrophy.
Conclusion:
Spinoglenoid cysts can cause compressive neuropathy with associated pain and muscle hypotrophy. MRI and EMG can help in establishing the diagnosis and in the pre-operative assessment. Surgical intervention with arthroscopy is currently the technique preferred by most surgeons.
Pop-cola acids and tooth erosion: an in vitro, in vivo, electron-microscopic, and clinical report
Authors: Amirfirooz Borjian, Claudia C F Ferrari, Antoni Anouf, Louis Z G Touyz
Journal: Int J Dent (2010)

Introduction. Manufactured Colas are consumed universally as soft drinks. Evidence about the acid contents of Cola-beverages and its effects on teeth is rare. Aim. To assess (i) cola acidity and buffering capacity in vitro, (ii) tooth erosion after swishing with colas in vivo (iii) scanning electron microscopic effects on teeth of colas, and tooth-brush abrasion, and (iv) report a clinical case of erosion from cola consumption. Materials and Methods. (i) We measured six commercially available pop "Cola beverages", pH, and buffering capacities using a pH-Mettler Automatic Titrator, with weak solution of Sodium Hydroxide (ii) two cohorts, one with teeth, the second without teeth rinsed with aliquots of Cola for 60 seconds. Swished cola samples tested for calcium and phosphorus contents using standardized chemical analytical methods (iii) enamel, dentine, and the enamel-cemental junction from unerupted extracted wisdom teeth were examined with a scanning electron microscope after exposure to colas, and tested for tooth-brush abrasion; (iv) a clinical case of pop cola erosion presentation, are all described. Results. Comparisons among pop colas tested in vitro reveal high acidity with very low pH. Buffering capacities in millilitres of 0.5 M NaOH needed to increase one pH unit, to pH 5.5 and pH 7 are reported. Rinsing in vivo with pop cola causes leeching of calcium from teeth; SEM shows dental erosion, and pop-cola consumption induces advanced dental erosion and facilitates abrasion. Conclusions. (i) Pop-Cola acid activity is below the critical pH 5.5 for tooth dissolution, with high buffering capacities countering neutralization effects of saliva; (ii) calcium is leeched out of teeth after rinsing with pop colas; (iii) SEM evidence explains why chronic exposure to acid pop colas causes dental frangibles; (iv) a clinical case of pop-cola erosion confirms this.
Body aches, tender bones and rapid loss of weight: a case report
Authors: Hadda Vijay, Vikram Kishore Navil, Jain Vaibhav, Anita Chopra, Ashish Goel, Rita Sood
Journal: Cases J (2009)

Introduction:
Bone metastases presenting with pain and body-ache may be the first presentation of carcinoma in about a fourth of patients with cancer. Radiologically majority of the metastases are osteolytic and multiple. Sometimes these may be confused with infective or inflammatory conditions, particularly in young individuals, and degenerative conditions of the spine and hip in elderly, which may delay the diagnosis and treatment leading to poor outcomes.
Case presentation:
A 30 year old non-smoking male teetotaller presented with intermittent, high-grade nocturnal fever with night sweats of one year. He also had low back ache over his right hip. We found him febrile, pale and his long bones, ribs and pelvis were tender. He had a 3 x 4 cm tender and hard swelling over the upper part of his sternum. Another firm, non-tender swelling about 4 x 5 cm was seen in the right iliac region. Radiographs of the skull, spine and pelvis revealed multiple variable sized lytic lesions. A metastatic malignancy or disseminated tuberculosis was considered. His anti-tubercular therapy was intensified Fine needle aspiration from sternal lesion showed inflammatory cells. A bone marrow biopsy showed infiltration by tumor cells suggestive of metastatic adenocarcinoma. Patient's condition continued to deteriorate and he died within a fortnight of his hospitalization.
Conclusion:
Although masquerading as tuberculosis lytic lesions might be an evidence of malignant metastatic. Although, treatment is ineffective in this stage palliative efforts to improve quality of life should be made.