OpenMed/multicare-articles huggingface dataset:
Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification - Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations
Authors: Lingjuan Liu, Lu Zhang, Peng Huang, Jie Xiong, Yangyang Xiao, Cheng Wang, Dingan Mao, Liqun Liu
Journal: Front Pediatr (2022)
Keywords: adar1 homozygous mutations, ags 6, dsh, pda, vsd, mitral valve calcification
MeSH terms: Case Reports

Dyschromatosis symmetrica hereditaria (DSH), characterized by a mixture of hyper- and hypopigmented macules on the skin, is a rare pigmentary dermatosis of autosomal dominant inheritance. The pathogenic gene is adenosine deaminase acting on the RNA 1 gene (ADAR1), mutations in this gene also lead to Aicardi-Goutières syndrome type 6 (AGS 6), a rare hereditary encephalopathy with isolated spastic paraplegia. The pathomechanism of the ADAR1 gene mutations inducing DSH has not been clarified yet. We report the first case of DSH combined with AGS caused by the homozygous mutation of the ADAR1 gene in China (c.1622T > A) and reviewed the relevant literature. AGS 6 could occur in both men and women, and start in infancy. The main characteristics are growth retardation, skin depigmentation, intracranial calcification, and cerebral white matter lesions. In the current paper, the proband also had patent ductus arteriosus (PDA), ventricular septal defect (VSD), and mitral valve calcification, which are new symptoms that have not been reported in other cases. Additionally, we also aim to discuss the possible molecular mechanisms underlying the clinical heterogeneity caused by ADAR1 gene mutations.
Niemann-Pick Disease: A Case Report and Literature Review
Authors: Paola Jacqueline Vélez Pinos, Michell Susan Saavedra Palacios, Paolo Andrés Colina Arteaga, Tania Diciana Arevalo Cordova
Journal: Cureus (2023)
Keywords: inborn errors, lysosomal storage diseases, metabolism, niemann-pick disease, sphingolipidoses
MeSH terms: Case Reports

Niemann-Pick disease (NPD) A/B is a lysosomal storage disease (LSD), caused by an autosomal recessive disorder that causes variation in sphingomyelin phosphodiesterase-1 (SMPD1). Systemic signs are cholestatic jaundice in the neonatal period or hepatosplenomegaly in infancy. The clinical course experienced by our patient did not correspond to the classic phenotypes. The diagnosis was effectively made at four years and three months of age when different signs such as abdominal distension, hepatosplenomegaly, and chronic malnutrition were present. Given the high suspicion of metabolic storage disease, an enzyme activity study, liver and bone marrow biopsies, and molecular studies were performed. In the bone marrow biopsy, pseudo-Gaucher foam cells were observed. Additionally, the liver biopsy showed dispersed ballooned cells with deposit material and nested cells with granular material. The double enzymatic assay was ordered to determine if the cause of these findings was due to Niemann-Pick or Gaucher disease; decreased sphingomyelinase activity values were obtained (0.28 mcoml/L/h). Subsequently, the molecular genetics study reported a double alteration in the sequence that encodes the SMPD1 gene, located on chromosome 11p15.4, which confirmed NPD type A or B. The overlap and the lack of some findings made the diagnosis very difficult. Diagnosis is crucial due to the multisystem involvement that this LSD can have.
Spontaneous Retroperitoneal Hemorrhage Secondary to Chronic Celiac Axis Compression Treated with Embolization Utilizing Cone Beam CT
Authors: Bashar Khiatah, Sam Jazayeri, Charles M Hubeny, Brian Nadav, Amanda Frugoli
Journal: Case Rep Radiol (2020)
MeSH terms: Case Reports

Median arcuate ligament syndrome (MALS) is a rare and often misdiagnosed vascular pathology. In this paper, we discuss a 51-year-old female with MALS presenting with hypotension due to retroperitoneal hemorrhage. Currently, there is no consensus regarding the optimal treatment approach for such patients. This case report demonstrates the utility of conventional mesenteric angiography, cone beam CT with 3D reconstruction, and selective mesenteric transarterial embolization as an effective treatment approach for patients with spontaneous aneurysm rupture in MALS.
Correction of Gingival Architecture Using the Biologically Oriented Preparation Technique in Two Patients with Human Immunodeficiency Virus
Authors: Luca Casula, Alex Gillone, Davide Musu
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Two female patients positive for human immunodeficiency virus and receiving antiretroviral treatment presented with esthetic concerns due to fixed dental prostheses in the anterior region. The patients had gingival recession and short clinical crowns in the esthetic zone. In both cases, the biologically oriented preparation technique was used to recreate ideal proportions between the teeth and gingivae. Since patients with human immunodeficiency virus experience a progressive deterioration of their immune systems and other significant comorbidities, a reduction in the number of traumatic clinical procedures is recommended. The use of this minimally invasive prosthetic protocol has not been previously reported in patients with human immunodeficiency virus. These cases demonstrate how short clinical crowns and gingival recession in the esthetic zone can be successfully treated with the biologically oriented preparation technique to avoid surgical procedures in patients with human immunodeficiency virus.
An Unusual Simultaneous Occurrence of Diabetes and Hypothyroidism in a Periodontitis Patient: A Case Report
Authors: Ajay M Khade, Jyoti Khade, Rashmi Nagdeve, Mangesh Phadnaik, Obaid Noman
Journal: Cureus (2023)
Keywords: calculus, diabetes mellitus, hypothyroidism, periodontitis, plaque
MeSH terms: Case Reports

Periodontal disease, diabetes mellitus, and hypothyroidism are commonly prevalent non-communicable diseases afflicting the human population all over the world, with the added burden on the health care system increasing the overall morbidity. It has been seen through various shreds of evidence that systemic diseases may influence the course of the localized disease and vice versa. Here, we report a case of 38-year-old female periodontitis patient also diagnosed with diabetes mellitus and hypothyroidism. Periodontitis is one of the complications of diabetes. But the occurrence of periodontal disease is a less common intra-oral finding in hypothyroidism as compared to diabetes. All these three chronic diseases were simultaneously observed in this patient, which is a rare occurrence and can adversely affect her overall prognosis. This case report highlights the need for a systematic interdisciplinary approach in the diagnosis and management of such cases.
Tatumella ptyseos septicaemia in a tertiary hospital in Nigeria: a case report
Authors: Atana Uket Ewa, Ernest Afu Ochang, Glory Ekpo Bassey, Bassey Ewa Ekeng
Journal: Pan Afr Med J (2021)
Keywords: septicaemia, blood culture, bronchopneumonia, case report
MeSH terms: Bacteremia / diagnosis, Gammaproteobacteria / isolation & purification, Gram-Negative Bacterial Infections / diagnosis, Case Reports, Cough / etiology, Female, Fever / etiology, Humans, Infant, Nigeria, Tertiary Care Centers, Tatumella ptyseos

Tatumella ptyseos septicaemia in humans is yet to be reported in Nigeria with very few cases reported worldwide. This case report describes the clinical and distinctive biochemical characteristics of Tatumella ptyseos, its antibiotic sensitivity pattern and risk factors associated with Tatumella ptyseos septicaemia. Our case is a 2 months old ex-premature female from Calabar, admitted in the month of May, 2018 into the Children´s Emergency Room, of the University of Calabar Teaching Hospital, Nigeria. She presented with cough of one month and fever of three weeks, and was found to be acutely ill looking, febrile with temperature of 38.6°C, mildly pale, dyspnoeic and tachypnoeic with SPO2 of 80% in room air, tender hepatomegaly of 6cm and a splenomegaly of 6cm. Blood culture yielded Gram negative rods identified as Tatumella ptyseos by OXOID MICROBACT™ GNB identification kit.
LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient
Authors: Hussein M Alshamrani, Luai M Assaedi, Jumanah A Bahattab, Abdulrahman M Mohammad, Magdy R Abdulghani
Journal: Case Rep Dermatol Med (2023)
MeSH terms: Case Reports

LEOPARD syndrome (LS) is a rare autosomal dominant inherited or sporadic genetic disorder caused commonly by missense mutations in the protein-tyrosine phosphatase-nonreceptor type 11 (PTPN11) gene. Due to its rarity and a high chance of misdiagnosis, the epidemiological profile of LS is poorly established. To the best of our knowledge, this is the second report with a documented PTPN11 gene mutation in Saudi Arabia.
Sudden Onset of Severe Pulmonary Hypertension in a Preterm Infant: A Case Report on the Role of Maternal Use of Serotonin Re-Uptake Inhibitors During Pregnancy and Concurrent Risk Factors
Authors: Isabella Buffoni, Silvia Buratti, Marisa F Mallamaci, Stefano Pezzato, Elisabetta Lampugnani, Francesca Buffelli, Ezio Fulcheri, Andrea Moscatelli
Journal: Front Pediatr (2022)
Keywords: case report, fetal growth restriction, newborn, preterm, pulmonary hypertension, selective serotonin reuptake inhibitors
MeSH terms: Case Reports

Persistent pulmonary hypertension of the newborn (PPHN) is a severe condition caused by failed circulatory adaptation at birth. Pulmonary hypertension is most common in full-term infants and rare in preterms, although it is increasingly diagnosed also in extremely preterm infants. Previous studies demonstrated the association between maternal use of selective serotonin re-uptake inhibitors during gestation and pulmonary hypertension. This brief report describes the complex physiopathological correlations that were identified in a case of severe pulmonary hypertension in a fetal growth restricted (FGR) preterm infant, with a history of maternal use of antidepressants during pregnancy. Perinatal factors, triggers and aggravating mechanisms caused a dramatic clinical course. Maternal history of escitalopram therapy throughout pregnancy was noted. Uteroplacental insufficiency, fetal hypoxia, FGR, preeclampsia, preterm delivery, antenatal steroids, and cesarean section were documented as concurrent risk factors. Myocardial immaturity and dysfunction, secondary to FGR and prematurity aggravated the hemodynamic compromise. The short time gap between pharmacological ductal closure and the onset of PPHN may suggest a cause-effect relationship, as observed in previous reports. Placental histopathologic findings are reported.
Case Report: Fanconi-Bickel Syndrome in a Chinese Girl With Diabetes and Severe Hypokalemia
Authors: Hongbo Chen, Juan-Juan Lyu, Zhuo Huang, Xiao-Mei Sun, Ying Liu, Chuan-Jie Yuan, Li Ye, Dan Yu, Jin Wu
Journal: Front Pediatr (2022)
Keywords: fanconi-bickel syndrome, glut2, slc2a2, case report, diabetes, hypokalemia
MeSH terms: Case Reports

Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive carbohydrate metabolism disorder. The main symptoms of FBS are hepatomegaly, nephropathy, postprandial hyperglycemia, fasting hypoglycemia, and growth retardation. Hypokalemia is a rare clinical feature in patients with FBS. In this study, we present a neonate suffering from FBS. She presented with hypokalemia, dysglycaemia, glycosuria, hepatomegaly, abnormality of liver function, and brain MRI. Trio whole-exome sequencing (WES) and Sanger sequencing were performed to identify the causal gene variants. A compound heterozygous mutation (NM_000340.2; p. Trp420*) of SLC2A2 was identified. Here, we report a patient with FBS in a consanguineous family with diabetes, severe hypokalemia, and other typical FBS symptoms. Patients with common clinical features may be difficult to diagnose just by phenotypes in the early stage of life, but WES could be an important tool. We also discuss the use of insulin in patients with FBS and highlight the importance of a continuous glucose monitoring system (CGMS), not only in diagnosis but also to avoid hypoglycemic events.
Zinc phosphide poisoning
Authors: Erdal Doğan, Abdulmenap Güzel, Taner Ciftçi, Ilker Aycan, Feyzi Celik, Bedri Cetin, Gönül Ölmez Kavak
Journal: Case Rep Crit Care (2014)

Zinc phosphide has been used widely as a rodenticide. Upon ingestion, it gets converted to phosphine gas in the body, which is subsequently absorbed into the bloodstream through the stomach and the intestines and gets captured by the liver and the lungs. Phosphine gas produces various metabolic and nonmetabolic toxic effects. Clinical symptoms are circulatory collapse, hypotension, shock symptoms, myocarditis, pericarditis, acute pulmonary edema, and congestive heart failure. In this case presentation, we aim to present the intensive care process and treatment resistance of a patient who ingested zinc phosphide for suicide purposes.
Osmotic Demyelination Syndrome in a Patient with Hypokalemia but No Hyponatremia
Authors: Carolina Ormonde, Raquel Cabral, Sara Serpa
Journal: Case Rep Nephrol (2020)
MeSH terms: Case Reports

Osmotic demyelination syndrome (ODS) is characterized by loss of myelin in various parts of the central nervous system. It is mainly caused by a rapid correction of hyponatremia, although other factors that may cause rapid rise in serum osmolality can also be associated with its development. Its prognosis is poor and the recovery rate is unknown. The authors report a rare case of a patient with multiple risk factors for ODS, without hyponatremia, who developed ODS and surprisingly recovered. This case report highlights the importance of recognizing risk factors for the development of ODS, even if the main one is not present.
Endometrioid adenocarcinoma metastatic to the thyroid, presenting like anaplastic thyroid cancer
Authors: Natasha Pollak, Gregory J Renner, Ronald Miick, Shellaine R Frazier
Journal: Case Rep Endocrinol (2011)
MeSH terms: Case Reports

Metastasis of uterine cancer to the head and neck is extremely rare. We report what we believe to be the first documented case of endometrioid adenocarcinoma metastasizing to the thyroid gland. An 80-year-old woman was referred to the otolaryngology service with a rapidly growing neck mass. The mass appeared to originate from the thyroid gland. Her clinical presentation was consistent with anaplastic thyroid carcinoma. A tracheostomy was performed. An open biopsy established the diagnosis of moderately differentiated adenocarcinoma, consistent with a gynecologic primary. The patient had undergone a hysterectomy 5 years prior for endometrioid adenocarcinoma. The thyroid tumor histology and immunophenotype corresponded well with her prior endometrial carcinoma, indicating that the thyroid mass was a metastasis from the endometrial primary. Radiotherapy appears to offer good local disease control in this rare case of endometrioid adenocarcinoma metastatic to the thyroid.
Purpura fulminans secondary to Capnocytophaga canimorsus bacteraemia following a dog bite: A case report and review of literature
Authors: Kieran Killington, Nathaniel Lee, Radha Asher, Olivia Farrant, Neil Stone
Journal: Access Microbiol (2023)
Keywords: capnocytophaga canimorsus, antimicrobial resistance, purpura fulminans
MeSH terms: Case Reports

Introduction:
Infection due to Capnocytophaga canimorsus may result in a wide variety of clinical presentations. We present a case of life-threatening Capnocytophaga canimorsus infection with evolution of ecchymosis to purpura fulminans.
Case description:
We present a case of a 43-year-old male with a history of excessive alcohol consumption who presented with features of sepsis following a dog bite. This was associated with a striking, widespread purpuric rash. A causative pathogen, C. canimorsus was identified through blood culture and 16S RNA sequencing. His initially purpuric rash underwent bullous transformation and was diagnosed clinically as purpura fulminans, confirmed on skin biopsy. He made a full recovery with prompt antimicrobial therapy, initially with co-amoxiclav but escalated to clindamycin and meropenem due to clinical deterioration and concerns of beta-lactamase resistance.
Discussion:
β-Lactamase producing Capnocytophaga strains are of increasing concern. This particular concern is reflected in our case as 5 days into treatment with β-lactamase inhibitor combination therapy the patients clinical condition deteriorated but demonstrably improved on switching to a carbapenem.The development of biopsy proven purpura fulminans in this immunocompetent case is a rare severe manifestation of the previously reported manifestation of disseminated intravascular coagulation (DIC) in Capnocytophaga bacteraemia. The case reported describes characteristics common with other DIC presentations such as the presence of clinical risk factors (history of excessive alcohol consumption) and symmetrical involvement. However, an unusual feature in that initial purpuric lesions were followed by the development of a bullous appearance and peripheral necrotic features concerning for purpura fulminans and confirmed with skin biopsy.
Effects of Transcranial Direct Current Stimulation (tDCS) and Exercises Treadmill on Autonomic Modulation of Hemiparetic Patients Due To Stroke-Clinic Test, Controlled, Randomized, Double-Blind
Authors: Glauber Heinz, Katia De Angelis, Simone Dal Corso, Maria Helena Gomes De Sousa, Ariane Viana, Fernando Dos Santos, João Carlos Ferrari Corrêa, Fernanda Ishida Corrêa
Journal: Front Neurol (2020)
Keywords: autonomic modulation, exercise treadmill, hemiparetic patients, stroke, transcranial direct current stimulation
MeSH terms: Case Reports

Background: After a Stroke, there is an autonomic nervous system (ANS) changes. Transcranial Direct Current Stimulation (tDCS) can promote the reorganization of the affected circuits. Objective: To evaluate the effects of tDCS applied before a session of physical activity on the treadmill, in the modulation of the autonomic nervous system of post-stroke patients. Methodology: Cross-over study, were randomized 12 adult hemiparetic subjects in 2 groups, Group 1 (active tDCS before exercise on the treadmill) and Group 2 (sham tDCS before exercise on the treadmill). Stimulation times were 20 min; treadmill time was 20 min. The heart rate variability (HRV) and Variability of Systolic Blood Pressure (VSBP) were evaluated for 15 min, in 3 periods (pre and post tDCS and during exercise recovery on the treadmill). Results: There was no difference in the VSBP and the HRV between the groups, compared with the baseline data; however, in the intragroup analysis, the parasympathetic modulation after active tDCS increased by 18% over baseline by the RMSSD with IC 95% (-7.85 to -0.34). In group 1, the post-tDCS active and post-exercise periods presented a value of variance above baseline, indicating a better prognosis. In group 2, there was a significant reduction of 38% of Variance values (p = 0.003) after tDCS sham. Conclusion: tDCS does not generate immediate effects on HRV and VSBP, except for intragroup comparison, which has greater participation in parasympathetic modulation in the group receiving active tDCS.
Unmasking of Brugada syndrome by lamotrigine in a patient with pre-existing epilepsy: A case report with review of the literature
Authors: Hafiz Omer, Mohamed H Omer, Abdulmohsen R Alyousef, Ali M Alzammam, Omar Ahmad, Haitham A Alanazi
Journal: Front Cardiovasc Med (2022)
Keywords: brugada syndrome, epilepsy, ion channels, lamotrigine, sudden cardiac death (scd), sudden unexpected death in epilepsy (sudep), syncope
MeSH terms: Case Reports

Brugada syndrome is an inherited cardiac channelopathy arising from mutations in voltage-gated cardiac sodium channels. Idiopathic epilepsy portrays a coalescent underlying pathophysiological mechanism pertaining to the premature excitation of neuronal voltage-gated ion channels resulting in the disruption of presynaptic neurons and the unregulated release of excitatory neurotransmitters. The coexistence of epilepsy and Brugada syndrome may be explained by mutations in voltage-gated ion channels, which are coexpressed in cardiac and neural tissue. Moreover, the incidence of sudden unexpected death in epilepsy has been associated with malignant cardiac arrhythmias in the presence of mutations in voltage-gated ion channels. Lamotrigine is an antiepileptic drug that inhibits neuronal voltage-gated sodium channels, thus stabilizing neural impulse propagation and controlling seizure activity in the brain. However, lamotrigine has been shown to inhibit cardiac voltage-gated sodium channels resulting in a potential arrhythmogenic effect and the ability to unmask Brugada syndrome in genetically susceptible individuals. We are reporting a case of a 27-year-old male patient with a background of presumed idiopathic epilepsy who was initiated on lamotrigine therapy resulting in the unmasking of Brugada syndrome and the onset of syncopal episodes. This case provides further evidence for the arrhythmogenic capacity of lamotrigine and highlights the relationship between epilepsy and Brugada syndrome. In this report, we aim to review the current literature regarding the associations between epilepsy and Brugada syndrome and the impact of lamotrigine therapy on such patients.
Nodular Esophageal Xanthoma: A Case Report and Review of the Literature
Authors: Ahmed Dirweesh, Muhammad Khan, Sumera Bukhari, Cheryl Rimmer, Robert Shmuts
Journal: Case Rep Gastrointest Med (2017)
MeSH terms: Case Reports

Xanthomas are localized nonneoplastic lesions within tissues that may manifest as papules, plaques, or nodules. These lesions can be found anywhere along the gastrointestinal tract, commonly in the stomach and colon, and rarely in the small intestine and esophagus. Esophagogastroduodenoscopy (EGD) with biopsy is the gold standard tool for diagnosis. Here, we report a rare case of a lower solitary nodular esophageal xanthoma in an elderly black female. Correspondingly, all cases of esophageal xanthomas reported in the English medical literature were reviewed and presented with the reported case.
Disseminated Histoplasmosis as an AIDS-Defining Illness Presenting as Fever of Unknown Origin in an 11-Year-Old Female
Authors: Kathryn E Kalata, Christina Osborne, Amy Willis, Kacey Navarro, Laura Z Fenton, Christiana Smith
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

A previously healthy 11-year-old female, who emigrated from Central America four years prior, was admitted with eight days of fever, night sweats, and anorexia. Past medical history included severe bronchiolitis, varicella, and hepatitis A as a child. Upon admission, her physical exam was significant for nontender cervical lymphadenopathy, intermittent erythematous papules on the upper extremities, and mild abdominal tenderness. Initial laboratory studies revealed leukopenia, anemia, elevated inflammatory markers, and antibodies to HIV-1 in the patient's serum and cerebrospinal fluid. Computed tomography scan was remarkable for many small nodules throughout the lungs and widespread lymphadenopathy. Additional testing confirmed the diagnosis of HIV/AIDS with a CD4 count of 52 cells/mm3, complicated by disseminated histoplasmosis. This case is significant because it represents a late presentation of vertically transmitted HIV with disseminated histoplasmosis in a nonendemic region as the AIDS-defining illness. This highlights the importance of maintaining a broad differential for opportunistic infections, especially among those who have spent a significant amount of time in a country where unusual pathogens may be more common. This case also considers the utility of antigen testing as a sensitive diagnostic test in immunocompromised patients.