OpenMed/multicare-articles huggingface dataset:
Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG)
Authors: Wataru Sakai, Yusuke Yoshikawa, Yasuyuki Tokinaga, Michiaki Yamakage
Journal: JA Clin Rep (2017)
Keywords: glycosylation, muscle hypotonia, neuromuscular blocking agents

Background:
Glycosylation is one of the major posttranslational modifications of proteins and it is essential for proteins to obtain normal biological functions. Congenital disorders of glycosylation (CDGs) are very rare genetic disorders that lack enzymes needed for glycosylation. Phosphomannomutase-2 (PMM2)-CDG is the most common type of CDG. CDGs can cause a wide variety of clinical symptoms in almost every organ system. Muscular hypotonia is often present in patients with CDGs and is one of the most notable problems for anesthetic management because the susceptibility to nondepolarizing neuromuscular blocking agents (NMBAs) in patients with CDGs is unknown.
Case presentation:
The patient was a 17-month-old boy who weighed 6.5 kg and was 71 cm tall. He presented for strabismus surgery. He had muscular hypotonia, mental retardation, hepatic dysfunction, mild cerebellar hypoplasia, and some dysmorphic features including inverted nipples and abnormal subcutaneous fat distribution of the hips. Gene analysis revealed a compound heterozygous mutation in the gene encoding PMM2 and the patient was diagnosed as having PMM2-CDG. General anesthesia was performed with sevoflurane, nitrous oxide, and rocuronium. Neuromuscular monitoring was performed during anesthesia using train-of-four (TOF)-Watch® (MSD, Japan). As postoperative analgesia, the surgeon performed sub-Tenon's anesthesia. We did not use any intravenous analgesic. After completion of the operation, residual rocuronium was competed by administration of sugammadex. The patient gained consciousness and spontaneous breathing was established shortly thereafter, and the trachea was smoothly extubated. He was transported to an inpatient ward and was discharged to his home the next day without any complication.
Conclusions:
We performed safe anesthetic management in a 17-month-old boy with PMM2-CDG using rocuronium under neuromuscular monitoring.A patient with PMM2-CDG may show nearly normal susceptibility to nondepolarizing NMBAs.
Surgical Management of Multijoint Septic Arthritis due to Rat-Bite Fever in a Pediatric Patient: A Case Study
Authors: Adam M Wegner, Nicole Look, Brian M Haus
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

In the United States, rat-bite fever is a rare systemic illness principally caused by Streptobacillus moniliformis, an organism found in the nasopharyngeal flora of rodents. Infection through direct exposure to rat excreta such as saliva, urine, or feces can lead to fever, rash, and an asymmetric migratory polyarthritis. As rodents are becoming more popular as pets, more pediatric cases are being documented. We report a pediatric case of delayed onset septic arthritis in the left wrist and right knee due to S. moniliformis from a rat bite. Previously reported pediatric case studies of suppurative arthritis due to S. moniliformis have only involved the hip. This case study demonstrates the importance of a thorough exposure history and consideration of zoonotic infections as a cause of septic arthritis in a pediatric patient that requires antibiotics and surgical intervention.
Severe emphysematous pyelonephritis: conservative management plus image-guided percutaneous drainage prior to successful elective nephrectomy. A case report and review of the literature
Authors: W Tilden, S Valliani, H S Chana
Journal: BJR Case Rep (2015)
MeSH terms: Case Reports

Emphysematous pyelonephritis (EPN) is a severe necrotizing infection of the kidney, characterized by gas within the renal parenchyma. It is strongly associated with diabetes mellitus and ureteric obstruction. We describe the case of a young female with severe EPN and gas extending diffusely throughout the abdomen. We demonstrate the progression of her infection on CT images from initial admission to percutaneous drainage (PCD) of a large air-fluid collection and then to a period of non-resolution that required elective nephrectomy. Although emergency nephrectomy was historically indicated in EPN, image-guided PCD is emerging as an effective nephron-sparing intervention when combined with supportive care and antibiotic therapy. This can be followed by elective nephrectomy if indicated.
Unilateral Linear Lichen Planus Pigmentosus Responding to Isotretinoin: A Case Report
Authors: Fadi Alghamdi, Yara Alghamdi, Abdulellah I Aleissa, Wasan AlQurashi, Abdullah Alharbi
Journal: Cureus (2023)
Keywords: clinical dermatology, derm path, lichen planus pigmentosus, pathology derm, retinoid
MeSH terms: Case Reports

Lichen planus pigmentosus (LPP) is a rare variant of lichen planus. Due to the scarce number of patients diagnosed with LPP, there are no treatment guidelines. Multiple topical and oral agents are utilized in LPP with varying degrees of response. Isotretinoin has only been investigated in a case report and a single prospective pilot study for managing LPP. Herein, we report the efficacy, safety, and moderate improvement of LPP patients on isotretinoin 20 mg (0.25 mg/kg), topical adapalene gel, 4% hydroquinone cream, and topical sunscreen.
Pre-existing T- and B-cell defects in one progressive multifocal leukoencephalopathy patient
Authors: Alessandra Sottini, Ruggero Capra, Cinzia Zanotti, Marco Chiarini, Federico Serana, Doris Ricotta, Luigi Caimi, Luisa Imberti
Journal: PLoS One (2012)
MeSH terms: Antibodies, Monoclonal, Humanized / adverse effects, B-Lymphocytes / pathology, Leukoencephalopathy, Progressive Multifocal / immunology, Multiple Sclerosis / immunology, T-Lymphocytes / pathology, Case Reports, Adult, B-Lymphocytes / immunology, B-Lymphocytes / metabolism, Case-Control Studies, Female, Humans, Leukoencephalopathy, Progressive Multifocal / chemically induced, Leukoencephalopathy, Progressive Multifocal / pathology, Male, Middle Aged, Multiple Sclerosis / complications, Multiple Sclerosis / therapy, Natalizumab, T-Lymphocytes / immunology, T-Lymphocytes / metabolism, Young Adult, Antibodies, Monoclonal, Humanized, Natalizumab

Progressive multifocal leukoencephalopathy (PML) usually occurs in patients with severe immunosuppression, hematological malignancies, chronic inflammatory conditions or receiving organ transplant. Recently, PML has also been observed in patients treated with monoclonal antibodies. By taking advantage of the availability of samples from a multiple sclerosis (MS) patient treated with natalizumab, the antibody anti-α4 integrin, who developed PML and was monitored starting before therapy initiation, we investigated the fate of T and B lymphocytes in the onset of PML. Real-time PCR was used to measure new T- and B-cell production by means of T-cell receptor excision circle (TREC) and K-deleting recombination excision circle (KREC) analysis and to quantify transcripts for CD34, terminal-deoxynucleotidyltransferase, and V pre-B lymphocyte gene 1. T- and B-cell subsets and T-cell heterogeneity were measured by flow cytometry and spectratyping. The data were compared to those of untreated and natalizumab-treated MS patients and healthy donors. Before therapy, a patient who developed PML had a low TREC and KREC number; TRECs remained low, while KRECs and pre-B lymphocyte gene 1 transcripts peaked at 6 months of therapy and then decreased at PML diagnosis. Flow cytometry confirmed the deficient number of newly produced T lymphocytes, counterbalanced by an increase in TEMRA cells. The percentage of naive B cells increased by approximately 70% after 6 months of therapy, but B lymphocyte number remained low for the entire treatment period. T-cell heterogeneity and immunoglobulins were reduced. Although performed in a single patient, all results showed that an immune deficit, together with an increase in newly produced B cells a few months after therapy initiation, may predispose the patient to PML. These findings indicate the TREC/KREC assay is a potential tool to identify patients at risk of developing PML and may provide insights into the immunological involvement of monoclonal antibody-associated therapies.
Sequence and Timing of Intracranial Changes in Cytomegalovirus in Pregnancy: A Case Report and Literature Review
Authors: Cynthia O'Sullivan, Shankari Arulkumaran, Lorin Lakasing, Eric Jauniaux, Karl Murphy
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Cytomegalovirus (CMV) is the most common cause of intrauterine infection, occurring in up to 2% of all live births. Most women are asymptomatic or experience nonspecific symptoms, which can lead to long-term sequelae in newborns including neurological impairment, hearing loss, and mental retardation. A 41-year-old woman (G6 P2), with a medical history of epilepsy, presented for her routine anomaly scan at 20 + 4/40. A single finding of echogenic bowel was noted on ultrasound which prompted a full investigation. A repeat ultrasound only five days later demonstrated progressive changes, which included bilateral ventriculomegaly with oedema of the posterior ventricular wall, periventricular hyperechogenicity, and enlargement of the cisterna magna. CMV DNA was detected at amniocentesis. Ultrasound findings are not diagnostic for CMV with only 11-15% of at-risk fetuses being identified. Unfortunately, these findings may be the only indication of an abnormality. There is a well-documented lack of awareness surrounding CMV and screening is not routinely offered. Given the risk to the pregnancy of CMV and to subsequent pregnancies, simple education at the start of a pregnancy could significantly reduce the incidence of maternal CMV.
Spontaneous Regression of Optic Disc Pit Maculopathy in a Six-Year-Old Child
Authors: Sezin Akça Bayar, Almila Sarıgül Sezenöz, Eylem Yaman Pınarcı, Gürsel Yılmaz
Journal: Turk J Ophthalmol (2017)
Keywords: optic pit maculopathy, optic pit, spontaneous regression

A 6-year-old boy with a complaint of blurred vision for two months was referred to our clinic. His visual acuity was 20/32 in the right eye and 20/20 in the left eye. Optical coherence tomography (OCT) revealed optic disc pit maculopathy in the right eye. The patient was followed for 6 months without any treatment. At the end of the 6-month period, the patient's visual acuity was 20/20 in both eyes. The OCT imaging showed spontaneous regression of the optic disc pit maculopathy. In this case report, it is concluded that in children, spontaneous regression of the optic pit maculopathy with full recovery of visual acuity is possible. The development of optic pit maculopathy in childhood is rare and there are not enough studies on the treatment methods. Therefore, our case report may be helpful in the management of similar cases of pediatric optic disc maculopathy.
Neuroendoscopic treatment of multiple intracranial arachnoid cysts: a case report
Authors: Di Chen, Jun Zhang, Lixin Wu, Xueyuan Li, Siqi Ma, Xuqiang Zhu, Dongming Yan
Journal: Chin Neurosurg J (2018)
Keywords: arachnoid cysts, endoscopic fenestration, obstructive hydrocephalus
MeSH terms: Case Reports

Background:
Multiple arachnoid cysts are very rare within the central nervous system. The cysts will sometimes increase in size with age, lead to the mass effect or cerebrospinal fluid (CSF) flow obstruction, and cause some symptoms, which requires the surgery intervention.
Case presentation:
A 35-year-old female was admitted to our hospital with some symptoms related to hydrocephalus for 1 month. Brain magnetic resonance imaging (MRI) revealed well-marginated cystic lesions with CSF signal intensity in the ventricular and cisternal systems, bilateral temporal lobes, and left occipital lobe. Cine phase-contrast MRI showed the aqueduct of sylvius was blocked by the cyst in the quadrigeminal cistern. We employed endoscopic ventriculocystostomy and septostomy to create the communication of the cyst with ventricular and cistern system. As a result, the patient's symptoms were relieved.
Conclusions:
Endoscopic management can be an effective way for treating intracranial multiple arachnoid cysts, which is the first report of this kind. We hope that this report could help improve the management of intracranial arachnoid cysts with the neuroendoscopic technology.
Autotransplantation of Ectopic Permanent Maxillary Incisors
Authors: Sarimah Mohd Mokhtar, Laila Abd Jalil, Nurhidayah Muhd Noor
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

The report presents examples of successful cases of autotransplantation of ectopic teeth as donor in the treatment of clinically missing maxillary anterior teeth in young patients. The transplanted teeth were either severely ectopic, inverted, rotated or in an unfavourable position that they are commonly sacrificed as a result. Details of surgical technique as well as clinical and radiographic assessments were discussed.
A rare third ventricle solitary tuberculoma
Authors: Hermann Adonis N'da, Adéréhime Haidara, Landry Drogba, Louis Kéhableon Derou, Serges Konan Yao, Vincent Ba Zézé
Journal: Pan Afr Med J (2013)
Keywords: intraventricular tuberculoma, third ventricle, tuberculoma
MeSH terms: Brain Diseases / microbiology, Third Ventricle / microbiology, Tuberculoma, Intracranial / diagnosis, Case Reports, Brain Diseases / complications, Brain Diseases / diagnosis, Brain Diseases / pathology, Child, Female, Headache / diagnosis, Headache / etiology, Humans, Neuroimaging, Seizures / diagnosis, Seizures / etiology, Third Ventricle / pathology, Tuberculoma, Intracranial / complications, Tuberculoma, Intracranial / pathology, Vision Disorders / diagnosis, Vision Disorders / etiology

The localization of the tuberculoma at the third ventricle is rare. The authors report a case of third ventricle solitary Tuberculoma which has occurred in a 10 year old patient and revealed by a syndrome of intracranial hypertension without tuberculosis stigma. This lesion appears clinically and radiologically as a primary brain tumor. A total removal using a subchoroidal approach to the third ventricle has been performed. Histological examination showed a tuberculous like granuloma. An adjuvant antituberculous chemotherapy practiced for 6 months brought the complete cure. The authors insist on the diagnostic and therapeutic difficulties in front of a third ventricle solitary tuberculoma.
Retroperitoneal schwannoma preoperatively diagnosed as liver metastasis from colon cancer: A case report
Authors: Huanlin Wang, Tomoharu Yoshizumi, Shinji Itoh, Toru Ikegami, Noboru Harada, Yoshinao Oda, Masaki Mori
Journal: Int J Surg Case Rep (2019)
Keywords: liver metastasis, preoperative diagnosis, retroperitoneal schwannoma

Background:
Retroperitoneal schwannomas are rare.
Case presentation:
We here report a case of 64-year-old woman who was referred to her local hospital for abdominal pain and found to have a palpable tumor. Computed tomography (CT) and colonoscopy revealed a combination of liver and colon lesions and colon cancer with a large liver metastasis was suspected. After neoadjuvant chemotherapy had proved ineffective for her presumed liver metastasis, the patient was referred to our hospital where we performed a simultaneous right hemicolectomy and extended left hepatic lobectomy. The pathological diagnoses were a colonic adenocarcinoma and retroperitoneal schwannoma immediately adjacent to the liver.
Conclusions:
Although liver metastasis should be the first provisional diagnosis in patients with advanced colon cancer, retroperitoneal schwannoma should also be suspected in the differential diagnosis of possible liver lesions.
Case Report: Developmental Delay and Acute Neuropsychiatric Episodes Associated With a de novo Mutation in the CAMK2B Gene (c.328G>A p.Glu110Lys)
Authors: Bonnie K Dwyer, Danielle C M Veenma, Kiki Chang, Howard Schulman, Geeske M Van Woerden
Journal: Front Pharmacol (2022)
Keywords: camkiiβ, camk2b, acute periodic neuropsychiatric episode, ca/calmodulin dependent protein kinase 2b, case report, developmental delay, encephalopathy, human genetics
MeSH terms: Case Reports

Mutations in the genes encoding calcium/calmodulin dependent protein kinase II (CAMK2) isoforms cause a newly recognized neurodevelopmental disorder (ND), for which the full clinical spectrum has yet to be described. Here we report the detailed description of a child with a de novo gain of function (GoF) mutation in the gene Ca/Calmodulin dependent protein kinase 2 beta (CAMK2B c.328G > A p.Glu110Lys) who presents with developmental delay and periodic neuropsychiatric episodes. The episodes manifest as encephalopathy with behavioral changes, headache, loss of language and loss of complex motor coordination. Additionally, we provide an overview of the effect of different medications used to try to alleviate the symptoms. We show that medications effective for mitigating the child's neuropsychiatric symptoms may have done so by decreasing CAMK2 activity and associated calcium signaling; whereas medications that appeared to worsen the symptoms may have done so by increasing CAMK2 activity and associated calcium signaling. We hypothesize that by classifying CAMK2 mutations as "gain of function" or "loss of function" based on CAMK2 catalytic activity, we may be able to guide personalized empiric treatment regimens tailored to specific CAMK2 mutations. In the absence of sufficient patients for traditional randomized controlled trials to establish therapeutic efficacy, this approach may provide a rational approach to empiric therapy for physicians treating patients with dysregulated CAMK2 and associated calcium signaling.
Recurrent endometrial stromal sarcoma: treatment with a progestin and gonadotropin releasing hormone agonist
Authors: Nefertiti Chianti Dupont, Philip John Disaia
Journal: Sarcoma (2010)
MeSH terms: Case Reports

Endometrial stromal sarcoma (ESS) formerly classified as low-grade endometrial stromal sarcoma is a rare uterine malignancy with a good prognosis despite a tendency to recur. Primary surgical management for ESS includes total abdominal hysterectomy and bilateral salpingo-oophorectomy. Patients with ESS have long disease-free survival rates when treated with primary surgical therapy, but nearly fifty percent of these patients will recur. We present the case of a patient with recurrent ESS who had an excellent response to combined therapy with megestrol and leuprolide.
Digitally designed guided implant surgery in deficient maxillary ridges: Case reports
Authors: Neethi Deborah Devadason, Senthilkumar S, Rajasekar S
Journal: J Adv Periodontol Implant Dent (2022)
Keywords: 3-d printing, bone density, computer-aided design, dental implants, osteotomy
MeSH terms: Case Reports

Periodontitis can lead to the loss of hard and soft tissues of the oral cavity. Dental implants have become a reliable treatment modality in recent times, especially with the evolution of digital technology such as CBCT, implant planning software, computer-assisted manufacturing, and guided implant surgery. Documentation of such advancements and their clinical implications would add to the existing knowledge on implant dentistry, encouraging dentists to approach complex implant surgeries confidently. This paper discusses the rehabilitation of missing teeth by applying computer-assisted guided implant placement in two cases with deficient bone volume anteriorly and posteriorly in the maxilla, respectively. Digital planning and careful execution have resulted in precise implant placement and complete osseointegration. In these cases, we could devise treatment plans with both anatomical and prosthetic considerations while being minimally invasive and more predictable, with shorter treatment time and greater patient comfort.
Spontaneous bladder rupture after non-traumatic vaginal delivery: a rare case report
Authors: Yasmine Ellouze, Maroua Abdelmoula, Sahar Elleuch, Anouar Jarraya, Khaled Trigui, Fatma Chaker, Smaoui Walid, Kolsi Kamel
Journal: Pan Afr Med J (2023)
Keywords: bladder rupture, case report, laparotomy, vaginal delivery
MeSH terms: Urinary Bladder Diseases / diagnosis, Urinary Bladder / surgery, Case Reports, Abdominal Pain / complications, Adult, Ascites, Delivery, Obstetric / adverse effects, Female, Humans, Pregnancy, Rupture, Rupture, Spontaneous / surgery

Spontaneous bladder rupture (SBR) is a rare condition and often missed diagnosis, especially after a non traumatic vaginal delivery. A 32-year-old para 3 woman, consulted for abdominal pain and anuria two days after instrumental vaginal delivery with forceps for foetal distress in second sate of labour. Blood tests were suggestive of an acute renal failure. An abdominocentesis revealed a clear fluid looking like ascites. The ultrasound and computed tomography (CT) scan showed a large abdominal effusion. An exploratory laparoscopy revealed a bladder perforation which was sutured after laparotomy. SRB is extremely rare after a non traumatic vaginal delivery. It is associated with significant morbidity and mortality. Symptoms are mostly non-specific. It is suspected when post partum abdominal pain is associated with an effusion and renal failure signs. If suspected, the uroscanner remains the gold standard for diagnostic. Laparotomy is the standard surgical approach in this condition. Abdominal pain with elevated serum creatinine should be suspicious of SBR in post-partum.
The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing
Authors: Giuseppina Rapacchia, Cristina Lapucci, Maria Carla Pittalis, Aly Youssef, Antonio Farina
Journal: Case Rep Obstet Gynecol (2015)

Panorama Plus (Natera), a single-nucleotide polymorphism- (SNP-) based approach that relies on the identification of maternal and fetal allele distributions, allows the detection of common aneuploidies and also incorporates a panel of 5 microdeletions including Di George syndrome. We report here the first case of Di George syndrome detected by NIPT in Italy; blood was drawn at 12 weeks' gestation. The patient had an amniocentesis to confirm the diagnosis by MLPA (multiplex ligation-dependent probe amplification) and an ultrasound aimed to detect the features associated with the syndrome. A right aortic arch and suspect of thymus atrophy were detected, but not other severe malformations typical of the disease. The patient terminated the pregnancy at 17 weeks. NIPT allowed an early screening of Di George syndrome. As the patient was at low risk, it is likely that an ultrasound would have missed the condition.
Osteoid Osteoma of the Basilar Border of the Mandible: A Diagnostic Dilemma
Authors: Rym Kammoun, Imen Chaabani, Sonia Ghoul, Touhami Ben Alaya
Journal: Case Rep Dent (2022)
MeSH terms: Case Reports

Introduction. Osteoid osteoma is a benign osseous tumor characterized by an excessive formation of unmineralized bone matrix. The aim of this study was to present, through a case report, the clinical and radiological manifestations of osteoid osteoma affecting the left basilar border of the mandible. Observation. A 30-year-old male patient presented with left mandibular pain of unknown etiology. The chief complaint was mandibular pain accentuating mainly at night, originating in the left basilar border, and radiating to the whole mandibular hemi-arch. Extraoral examination revealed a small, bone-consistent, and slightly painful swelling. Computed tomography scan revealed a well-limited, infracentimetric, and mixed osteolytic image with central nidus and peripheral osteocondensation. Histological examination revealed osteoid osteoma. Surgical excision of the lesion was performed, and the pain stopped immediately. Discussion. This benign tumor presents many clinical and radiological features similar to other lesions. To differentiate osteoid osteoma from these other bone pathoses, practitioners should have a clear concept and keen observation skills. Confrontation of the clinical, radiological, and anatomopathological data is therefore essential to establish the correct diagnosis and to determine the appropriate treatment plan.