OpenMed/multicare-articles huggingface dataset:
IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT
Authors: Adriana Maria Alves De Tommaso, Flávia Fonseca de Carvalho Barra, Gabriel Hessel, Carolina Araújo Moreno, Roberto Giugliani, Cecília Amélia Fazzio Escanhoela
Journal: Rev Paul Pediatr (2017)
MeSH terms: Cholesterol Ester Storage Disease / pathology, Liver / pathology, Wolman Disease / pathology, Case Reports, Biopsy, Child, Preschool, Female, Humans, Lysosomal acid lipase deficiency

Objective:
To describe a case of cholesteryl ester storage disease (CESD) and discuss the importance of liver biopsy for diagnosis.
Case description:
A female patient, aged two years and ten months, presented with an increased abdominal volume following hepatomegaly for four months. Abdominal ultrasound demonstrated hepatomegaly and hepatic steatosis. Laboratory tests showed elevated liver serum enzymes and dyslipidemia. Liver biopsy was consistent with CESD.
Comments:
Although measuring enzyme activity is the gold standard for CESD diagnosis, liver biopsy is very helpful when investigating suspected cases of CESD, particularly upon other differential diagnoses to be considered.
Chromosomal abnormality of acute promyelocytic leukemia other than PML- RARA: a case report of acute promyelocytic leukemia with del(5q)
Authors: Osamu Imataki, Makiko Uemura
Journal: BMC Clin Pathol (2016)
Keywords: acute promyelocytic leukemia (apl), all-trans retinoic acid (atra), arsenic oxide (ato), case report, clonal cytogenetic aberration (cca), pml-rara
MeSH terms: Case Reports

Background:
The recent study described a better outcome in acute promyelocytic leukemia patients treated with all-trans retinoic acid and arsenic oxide compared to those treated with all-trans retinoic acid combined with conventional chemotherapy. The pivotal study indicated that favorable-risk acute promyelocytic leukemia patients can be cured without any cytotoxic chemotherapy. Even high-risk patients are treatable with cytotoxic agents. Acute promyelocytic leukemia does not develop only by the dedifferentiation caused by PML-RARA. A determined oncogene other than PML-RARA which promotes cell proliferation would be required.
Case presentation:
We recently treated a 30-year-old Japanese female who achieved molecular remission with only the administration of all-trans retinoic acid. The patient's leukemic clones concomitantly had a del(5q) aberrant chromosome with t(15;17) (q22;q12). The patient's bone marrow cells indicated clonal evolution of the tumor cells expressing CD13dim, CD33+, CD117+, and lacking HLA-DR, CD34 and CD11b. A fluorescence in situ hybridization analysis detected PML-RARA fusion genes in the patient's bone marrow specimens, leading to the diagnosis of acute promyelocytic leukemia.
Conclusion:
A del(5q) is one of the characteristic chromosomal abnormalities observed in myelodysplastic syndrome. On the other hand, up to 40 % of acute promyelocytic leukemia cases are known to harbor the addition of a clonal cytogenetic abnormality. However, such a case acute promyelocytic leukemia with del(5q) would be rare, rather than myelodysplastic syndrome, consequently obtaining t(15;17). Which cytogenetic abnormalities, acute promyelocytic leukemia or myelodysplastic syndrome, came first is informative to make a clinical decision for the initial therapy. In this case, we speculated the PML-RARA translocation is an original pathogenesis and thereafter additional cytogenetic abnormalities (del(5q) and -6) common in myelodysplastic syndrome. All-trans retinoic acid lead the patient into molecular remission. We propose that an assessment of additional cytogenetic abnormality in acute promyelocytic leukemia would contribute to the clinical decisions regarding whether to treat disease with all-trans retinoic acid and cytotoxic agents. It would be of interest to know the extent of cytogenetic abnormality in the patients regarding to mixed leukemia. One or more additional cytogenetic abnormalities other than PML-RARA could account for the biological malignant grade and prognostic index.
Radicular cyst in a primary molar following pulp therapy with gutta percha: A case report and literature review
Authors: Vo Truong-Nhu-Ngoc, Nguyen Vu-Thai-Lien, Luong Minh-Hang, Doan Thanh-Tung, Vu Thi-Nga, Hai Pham-The, Dinh-Toi Chu
Journal: J Clin Exp Dent (2019)
MeSH terms: Case Reports

A radicular cyst (RC) in deciduous dentition is relatively rare. This clinical report presents a case of RC that condition derived from a primary molar undergone an endodontic treatment with gutta-percha approximately one year ago. In addition, we also considered whether intracanal medicaments and gutta-percha filling material related to the formation and development of the cyst or not. Key words:Primary tooth, radicular cyst, pulp therapy, gutta-percha filling material, intracanal medicament.
An unusual cause of coma
Authors: Sujith Ovallath, R S Raj, Abdu Rahman, A S Girija
Journal: Case Rep Med (2012)

This case report is an unusual presentation of fibroid uterus as coma. The patient developed a recurrent hypoglycemia possibly secondary to the insulin-like growth factor secreted from the fibroid. The hypoglycemic symptoms disappeared on removal of the fibroid. The histopathological examination revealed no evidence of malignancy.
Figural Memory Impairment in Conjunction With Neuropsychiatric Symptoms in IgLON5 Antibody-Associated Autoimmune Encephalitis
Authors: Niels Hansen, Sina Hirschel, Winfried Stöcker, Anja Manig, Hannah Sönne Falk, Marielle Ernst, Ruth Vukovich, Inga Zerr, Jens Wiltfang, Claudia Bartels
Journal: Front Psychiatry (2020)
Keywords: iglon5 antibodies, autoimmunity, encephalitis, figural memory, memory impairment
MeSH terms: Case Reports

Background:
IgLON5 disease is an autoimmune disorder that shares neuropathological aspects with a tauopathy. Its clinical spectrum is heterogeneous, and figural memory impairment as an initial phenomenon of IgLON5 syndrome has not yet been described. The rationale of this report is to highlight symptoms related to IgLON5 disease that have not been reported to date. This case report will thereby emphasize how important it is to initiate thorough diagnostic methods including cerebrospinal fluid analysis (CSF) before starting early immunotherapy.
Methods:
We examined a 65-year-old Caucasian male via neuropsychological tests, magnetic resonance imaging (MRI), electroencephalography (EEG), neurography and polysomnography. He also underwent two lumbar punctures from which we determined specific autoantibodies in cerebrospinal (CSF) and peripheral blood (PB).
Results:
The patient presented initially complaining of memory loss, gradual dysphagia and sleeping dysfunction. Neuropsychological testing at first presentation and follow-up revealed subtle figural and working memory impairment. At onset and at his 6-month follow-up, we detected IgLON5 antibodies in CSF and PB. Furthermore, we identified in the CSF a blood-brain barrier disturbance at disease onset and follow-up, and markers of neuroaxonal damage such as mildly elevated phosphorylated Tau-181 protein with 86 pg/ml (normal range ≤ 61 pg/ml) at onset. Three months after his initial presentation, he was suffering from axonal neuropathy and transient ataxia in the extremities. Assuming a definitive autoimmune encephalitis-associated with anti-IgLON5 antibodies, we applied high-dose steroids monthly (1g methylprednisolone i.v. for five consecutive days) and his memory complaints, ataxia of extremities and peripheral neuropathy as well as sleeping dysfunction decreased.
Conclusions:
Our findings broaden IgLON5 disease's clinical spectrum to include predominant and discrete figural memory impairment together with sleeping dysfunction at disease onset. In addition, our report illustrates how important taking an elaborated diagnostic approach is to assuring an accurate diagnosis and the appropriate therapy if a patient presents with a persisting figural memory impairment and sleeping abnormalities so as to avoid overlooking IgLON5 disease and a potentially poor outcome.
Placenta Percreta in a Gravid Bicornuate Unicollis Uterus
Authors: Sammy Ngichabe, Mandeep Sura
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Background:
Identifying bicornuate uterus can be challenging especially as a cause of early pregnancy bleeding. On ultrasonographic examination, it is difficult to misdiagnose pregnancy in a bicornuate uterus as an ectopic pregnancy due to the continuity of the endometrium. A rudimentary horn of a bicornuate uterus in early pregnancy can occasionally be misdiagnosed for an ectopic pregnancy especially when compounded by severe abdominal pains and supportive sonographic evidence. Myometrial invasive grading of placenta may be necessary for emergency preparedness and consenting. Hemihysterectomy is lifesaving when percreta has caused severe postpartum haemorrhage.
Case presentation:
We present a 24-year-old primigravida who presented to the maternity department with severe abdominal pains at 35 weeks. She was pale on clinical examination and haemodynamically unstable. She underwent emergency caesarean section with a preoperative diagnosis of concealed abruptio placentae. Intraoperatively we encountered a bicornuate uterus, delivered a fresh stillbirth, and noted a placenta percreta. A hemihysterectomy was done and she recovered after transfusion without complications.
Conclusion:
A gravid horn of a bicornuate uterus may present as an ectopic pregnancy; careful assessment at laparotomy or laparoscopy is required to prevent inadvertent surgical termination of pregnancy. Placental myometrial invasive assessment is important for delivery emergency preparedness.
Inflammatory Arthritis following Hepatitis B Vaccination in an Infant
Authors: Sana S Rahimi, Barbara E Ostrov, Maricarmen Lopez-Pena
Journal: Case Rep Rheumatol (2021)
MeSH terms: Case Reports

Inflammatory arthritis in children may be idiopathic in nature or may be due to or follow infections. Rare reports identify inflammatory arthritis temporally related to vaccination in children. Herein, we describe the first reported case of an infant who developed inflammatory arthritis following hepatitis B vaccination. A 10-day-old female presented for evaluation of decreased movement of the right lower extremity and right knee swelling. Of note, the patient received a hepatitis B vaccine in her right thigh at birth. A workup found the patient to have a negative ANA but the presence of HLA B27. Findings resolved using ibuprofen. A literature review identified reports of what has been termed "reactive arthritis" in adult patients following the hepatitis B vaccine, frequently in association with HLA B27. No prior pediatric cases have been published. Healthcare providers must be aware of the rare development of postvaccination inflammatory arthritis.
Shared Psychotic Disorder in Old Age: Syndrome of Folie à Deux
Authors: Q Schopfer, M Eshmawey
Journal: Case Rep Psychiatry (2022)
MeSH terms: Case Reports

Background:
Shared psychotic disorder is a relatively rare condition first described by Lasegue and Falret in 1877, who named the syndrome "folie à deux" (FAD). This disorder is characterized by the transference of delusional ideas from one individual to another.
Methods:
We report the case of a mother and daughter who exhibited shared delusions of persecution after living in near-total isolation for 10 years. Both patients were hospitalized in two different wards, and the combination of separation, supportive, and pharmacological therapy resulted in remission for the mother and partial remission for the daughter.
Results:
Both patients were discharged, and a network was created by the psychiatric hospital which activated social workers for outpatient care. We also planned outpatient psychiatric sessions focused on the patients' specific role in the folie à deux disease, led by two different psychiatrists.
Conclusion:
FAD has a long history but it is still an unconventional psychiatric diagnosis. This case report sheds light on the clinical features and how to set proper treatment strategies. While the phenomenon of FAD in old age may not be as rare as previously thought, the literature remains scarce.
Case Report: PsAPSASH syndrome: an alternative phenotype of syndromic hidradenitis suppurativa treated with the IL-17A inhibitor secukinumab
Authors: Georgios Nikolakis, Katja Kreibich, Aristeidis Vaiopoulos, Katarzyna Kaleta, Joud Talas, Markus Becker, Christos C Zouboulis
Journal: F1000Res (2021)
Keywords: "acne inversa", "hidradenitis suppurativa", papa, papash, pash, pass, sapho, arthritis, autoinflammatory, hidradenitis, pustulosis, secukinumab, syndrome
MeSH terms: Hidradenitis Suppurativa / drug therapy, Case Reports, Antibodies, Monoclonal, Humanized, Humans, Interleukin-17, Phenotype, Syndrome, Tumor Necrosis Factor Inhibitors, Antibodies, Monoclonal, Humanized, Interleukin-17, Tumor Necrosis Factor Inhibitors, secukinumab

Syndromic hidradenitis suppurativa (HS) is a form of symptom constellations, which differs from the familial and genetic form and comprises predominantly osteoarticular manifestations. Many forms include pyoderma gangrenosum and acne (PASH), pyogenic arthritis (PAPASH), spondyloarthritis (PASS) and psoriatic arthritis (PsAPASH) and are categorized in the autoinflammatory syndromes. Anti-TNF-α and anti-IL-1a blockade are between the therapeutic approaches that improve skin symptoms and prevent permanent osteoarticular damage. This case report refers to the successful treatment of a mixed phenotype of the aforementioned symptoms using the IL-17A inhibitor secukinumab after initial treatment with adalimumab. The therapy improved both cutaneous and reported osteoarticular symptoms. Different approaches for these recalcitrant HS syndromes are essential in order to achieve long-term remission for those patients.
Differential response to biologics in a patient with severe asthma and ABPA: a role for dupilumab?
Authors: Carlo Mümmler, Bernd Kemmerich, Jürgen Behr, Nikolaus Kneidinger, Katrin Milger
Journal: Allergy Asthma Clin Immunol (2020)
Keywords: abpa, aspergillosis, asthma, dupilumab, il13, il4
MeSH terms: Case Reports

Background:
Allergic bronchopulmonary aspergillosis (ABPA) is a severe hypersensitivity reaction to aspergillus species colonizing the airways of patients with asthma or cystic fibrosis. Biologics including anti-IgE and anti-IL5 antibodies have strongly changed the treatment of severe asthmatics and have partly been reported to be effective in the treatment of ABPA. Recently, dupilumab, an anti-IL4-Rα antibody which inhibits signaling by the Th2-cytokines IL4 and IL13, has been approved for the treatment of severe asthma.
Case presentation:
Here, we report the case of a 49-year-old woman with severe asthma and ABPA, who was uncontrolled despite maximum inhalative therapy, anti-IL5-Rα antibody and continuous oral steroid therapy. Moreover, trials of itraconazole as well as omalizumab showed insufficient efficacy. Lung function revealed peripheral obstruction. FeNO and IgE were increased, eosinophils were suppressed under treatment while marked increases had been documented previously. Switching to dupilumab led to a complete resolution of pulmonary symptoms, resolution of exacerbations and complete withdrawal of oral steroids. A drastic improvement in lung function was noted, with an increase in FEV1 of almost 1 l. FeNO was normalized and IgE strongly reduced.
Conclusion:
Our case highlights that a patient may exhibit differential treatment responses to the currently available asthma biologics and suggests switching treatment if outcome is insufficient. A potential role for dupilumab in the treatment of ABPA warrants future studies.
Simultaneous upper limb melanoma and breast cancer related lymphedema management
Authors: Dimitrios Dionyssiou, Athanasios Papas, Avra Drougou, Athanasios Tsamaldoupis, Georgios Arsos, Efterpi Demiri
Journal: Case Reports Plast Surg Hand Surg (2023)
Keywords: lva, melanoma, breast cancer related lymphedema, sentinel lymph node biopsy
MeSH terms: Case Reports

We present a rare case of a patient with malignant melanoma in the lymphedematous arm associated with breast cancer and its lymphedema management. Histology of previous lymphadenectomy and results of current lymphangiographies suggested the need for SLN biopsy, and simultaneously perform of distal LVAs to manage lymphedema.
Obstructive pancreatolithiasis in a cat with triaditis and concurrent hypercalcaemia
Authors: Frederik Allan, Anne-Lorraine Peschard, Luca Schiavo, Will Bayton, Davide Corbetta, Katie E McCallum
Journal: JFMS Open Rep (2021)
Keywords: pancreatolithiasis, hypercalcaemia, internal medicine, triaditis
MeSH terms: Case Reports

Case summary:
A 7-year-old neutered female domestic longhair cat was presented for further investigation of suspected hepatobiliary disease. Increases in serum 1,2-o-dilauryl-rac-glycero-3-glutaric acid-(6'-methylresorufin) ester lipase and hepatobiliary enzymes, with concurrent hypoalbuminaemia, were documented on blood biochemistry. Abdominal ultrasonography findings were consistent with acute pancreatitis with multiple pancreatoliths visualised within the pancreatic duct. Treatment for suspected triaditis was initiated with a hydrolysed protein diet, amoxicillin-clavulanate, hepatoprotectants and buprenorphine. Fifty-three days later, the patient presented with hypercalcaemia and obstructive pancreatolithiasis, and was euthanased. Post-mortem examination revealed severe chronic active pancreatitis with moderate chronic lymphocytic, plasmacytic cholangiohepatitis and mild chronic lymphocytic-plasmacytic duodenal enteritis (triaditis). Multiple calcium carbonate pancreatoliths present within the pancreatic ducts had resulted in pancreatic duct obstruction.
Relevance and novel information:
Pancreatolithiasis is a very rare condition in cats, with only five reports to date. In human medicine, pancreatolithiasis is often a sequala to chronic pancreatitis, seen in up to 50-90% of patients. However, in cats the aetiology of pancreatolithiasis, and indeed chronic pancreatitis, is poorly understood. This report describes a case of obstructive pancreatolithiasis in a cat with histopathological confirmation of triaditis and is the first report of hypercalcaemia in a cat with obstructive pancreatolithiasis. This further adds to the evidence base that pancreatolithiasis may have a similar pathogenesis to humans and can develop secondarily to chronic pancreatitis in cats.
Cervical Spinal Cord Compression: A Rare Presentation of Hepatocellular Carcinoma
Authors: Puvanalingam Ayyadurai, Kanthi Rekha Badipatla, Chukwunonso Chime, Shiva Arjun, Pavithra Reddy, Masooma Niazi, Suresh Kumar Nayudu
Journal: Case Reports Hepatol (2017)
MeSH terms: Case Reports

Hepatocellular carcinoma (HCC) is the most common primary malignancy of liver. Distant metastasis to various organs is well known. Skeletal metastasis is also reported to various locations. Vertebral metastasis has been reported mostly to thoracic spine. However, cervical spinal cord involvement leading to cord compression has been reported very rarely in literature. We present a case of 58-year-old male with liver cirrhosis presenting as neck pain. Further work-up revealed metastatic HCC to cervical spinal cord resulting in acute cord compression. Patient has been treated with neurosurgical intervention.
Unusual presentation of multiple nerve entrapment: a case report
Authors: Veli Citisli, Murat Kocaoglu, Selcuk Göcmen, Mustafa Korucu
Journal: Pan Afr Med J (2014)
Keywords: cubital tunnel syndrome, electromyography, ulnar nerve
MeSH terms: Cubital Tunnel Syndrome / pathology, Electromyography / methods, Ulnar Nerve Compression Syndromes / pathology, Case Reports, Adult, Cubital Tunnel Syndrome / diagnosis, Humans, Male, Ulnar Nerve Compression Syndromes / diagnosis

Cubital tunnel syndrome is the most common form of ulnar nerve entrapment and the second most common entrapment neuropathy of the upper extremity after carpal tunnel syndrome. However, bilateral compressive ulnar neuropathy is a rare condition. Electro diagnostic studies are a valid and reliable means of confirming the diagnosis.
A case of Candida metapsilosis conjunctivitis in a neonate admitted to the cardiac heart intensive care unit
Authors: Shima Aboutalebian, Arezoo Charsizadeh, Hamid Eshaghi, Bahram Nikmaesh, Hossein Mirhendi
Journal: Clin Case Rep (2023)
Keywords: candida metapsilosis, antifungal susceptibility testing, conjunctivitis, identification, pediatrics
MeSH terms: Case Reports

Harmless commensal Candida species, especially uncommon and rare ones may rarely cause a serious infection. Candida metapsilosis is a recently described yeast that is phenotypically indistinguishable from Candida parapsilosis and molecular methods are essential for its identification. We report the first case of Candida conjunctivitis due to C. metapsilosis obtained from the eye discharge of a 40-day-old girl with congenital heart disease admitted to the cardiac intensive care unit (CICU). The yeast isolate was identified by sequencing the entire ITS1-5.8 rRNA-ITS2 region. Antifungal susceptibility testing performed according to the CLSI M27-A3 showed that the isolate was susceptible to amphotericin B, fluconazole, itraconazole, voriconazole, clotrimazole, nystatin, terbinafine, 5-fluorocytosine, and caspofungin. Differentiation of the fungal new species allows us the accurate diagnosis and treatment, and a better understanding the microbial epidemiology.
Primary angiosarcoma of the oral cavity in a young adult
Authors: Bhagat Singh Lali, Zachariah Chowdhury, Monika Gupta, Aseem Mishra
Journal: Autops Case Rep (2020)
Keywords: maxilla, oral ulcer
MeSH terms: Case Reports

Angiosarcoma is a rare neoplasm, constituting only 2% of all the soft tissue tumors and most frequently involves the skin of the head and neck region in elderly males. They are extremely aggressive tumors with high rates of metastasis and poor outcomes. We report a unique case of angiosarcoma involving an unusual site - upper alveolus and maxilla in a young patient highlighting the diagnostic challenges in such a scenario. A 29 years old female presented with a non-healing wound of the oral cavity, which had progressed to the current maximum size of 6.4 cm within one month. Magnetic resonance imaging (MRI) scan revealed the involvement of maxilla up to the floor of the orbit and adjacent soft tissue. However, no distant metastasis was detected on Positron Emission Tomography (PET) scan. Biopsy of the lesion showed an irregular, highly pleomorphic, and mitotically active epithelioid soft tissue tumor conclusively diagnosed as angiosarcoma.