Oculogyric crisis: a rare type of dystonia

Glycogenosis is defined as any condition in which the tissue concentration of glycogen is increased. There are currently ten recognized variants of glycogenosis that are heritable inborn errors of metabolism. The specific enzymatic defect in each of the variants is known or at least suspected. In all cases, the enzymatic defect prevents the proper metabolism or formation of the glycogen molecule. The clinical and histologic differences between the types of glycogenosis is important to a proper diagnosis after the presence of such a condition is realized. This study was initiated to examine the ultrastructure of the rare Type IV Glycogenosis (Amylopectinosis) of which there is very little morphologic characterization in the literature.Liver tissue was obtained by needle biopsy from a 12-month-old Oriental female who was originally admitted to the hospital after observation of poor development, loss of appetite, and hepatomegaly. The majority of the tissue was fixed for light microscopy in neutral buffered formalin and processed using routine and special staining procedures (reticulin, trichrome, iron, copper, PAS, PAS-diastase and PAS-pectinase.

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Thirty Year Old Female Presented with Nipple Destruction: A Case Report

Journal of Shaheed Suhrawardy Medical College ◽

10.3329/jssmc.v11i1.43187 ◽

2019 ◽

Vol 11 (1) ◽

pp. 81-83

Author(s):

Md Mustafizur Rahman ◽

Nadim Ahmed ◽

Sami Ahmad ◽

Shoaeb Imtiaz Alam ◽

Mohammad Rashedul Hassan ◽

...

Keyword(s):

Invasive Carcinoma ◽

Paget’S Disease ◽

Radical Mastectomy ◽

Paget's Disease ◽

College Hospital ◽

Rare Type ◽

Medical College ◽

Ductal Cell ◽

Areola Complex

Paget’s disease of the breast is a rare type of cancer of the nipple–areola complex and that is often associated with an underlying in situ or invasive carcinoma. It is often misdiagnosed as eczema of breast and treatment is delayed. Here we present a case where a 30 year old female presented with itching ulceration and destruction of her left nipple. She was treated initially by local physicians by applying local ointments but as her condition did not improve she was admitted to department of surgery Shaheed Suhrawardy Medical College hospital where she was diagnosed as Paget’s disease with infiltrating ductal cell carcinoma. She underwent modified radical mastectomy with axillary clearance and referred to oncology department for further management. J Shaheed Suhrawardy Med Coll, June 2019, Vol.11(1); 81-83

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Erdheim-Chester Disease Presenting with Histiocytic Colitis and Cytokine Storm

Journal of Gastrointestinal and Liver Diseases ◽

10.15403/jgld.2014.1121.262.erd ◽

2017 ◽

Vol 26 (2) ◽

pp. 183-187

Author(s):

George P. Christophi ◽

Yeshika Sharma ◽

Quader Farhan ◽

Umang Jain ◽

Ted Walker ◽

...

Keyword(s):

Periodic Acid ◽

Poor Response ◽

Rare Type ◽

Periodic Acid Schiff ◽

Hematopoietic Stem ◽

Hemodynamic Compromise ◽

Erdheim Chester Disease ◽

Erdheim Chester ◽

Chester Disease ◽

Segmental Colitis

Background: Non-Langerhans histiocytosis is a group of inflammatory lymphoproliferative disorders originating from non-clonal expansion of hematopoietic stem cells into cytokine-secreting dendritic cells or macrophages. Erdheim-Chester Disease (ECD) is a rare type of non-Langerhans cell histiocytosis characterized by tissue inflammation and injury caused by macrophage infiltration and histologic findings of foamy histiocytes. Often ECD involves the skeleton, retroperitoneum and the orbits. This is the first report documenting ECD manifesting as segmental colitis and causing cytokine-release syndrome.Case presentation: A 68-year old woman presented with persistent fever without infectious etiology and hematochezia. Endoscopy showed segmental colitis and pathology revealed infiltration of large foamy histiocytes CD3-/CD20-/CD68+/CD163+/S100- consistent with ECD. The patient was empirically treated with steroids but continued to have fever and developed progressive distributive shock.Conclusion: This case report describes the differential diagnosis of infectious and immune-mediated inflammatory and rheumatologic segmental colitis. Non-Langerhans histiocytosis and ECD are rare causes of gastrointestinal inflammation. Prompt diagnosis is imperative for the appropriate treatment to prevent hemodynamic compromise due to distributive shock or gastrointestinal bleeding. Importantly, gastrointestinal ECD might exhibit poor response to steroid treatment and other potential treatments including chemotherapy, and biologic treatments targeting IL-1 and TNF-alpha signaling should be considered.Abbreviations: AFB: acid-fast bacilli; ECD: Erdheim-Chester Disease; IBD: inflammatory bowel disease; PASD: periodic acid-Schiff with diastase; TB: tuberculosis

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Hybrid treatment of fibroadipose vascular anomaly: A case report

Open Medicine ◽

10.1515/med-2020-0228 ◽

2020 ◽

Vol 15 (1) ◽

pp. 890-897

Author(s):

Francesco Stillo ◽

Federica Ruggiero ◽

Antonio De Fiores ◽

Rita Compagna ◽

Bruno Amato

Keyword(s):

Patient Satisfaction ◽

Vascular Anomaly ◽

Rare Type ◽

Complete Excision ◽

Hybrid Treatment ◽

Constant Pain ◽

Additional Surgery ◽

Ethanol Embolization

AbstractBackgroundFirst identified in 2014, fibroadipose vascular anomaly (FAVA) is a very rare type of venous and lymphatic malformation. Marked by tough fibrofatty tissue in the extremities overtaking portions of the muscles, it is associated with constant pain and contracture of the affected extremity. There is a paucity of literature, and no guidelines on treatment procedure are available. This case highlights the role of hybrid treatment with primary ethanol percutaneous ethanol embolization and additional surgery for radicality in excision of FAVA lesions.Case summaryA 9-year-old girl with FAVA underwent the hybrid treatment. The achievements of complete excision, clinical response, and patient satisfaction in long-term follow-up were assessed. Following the hybrid treatment, the patient experienced significant improvement in pain. Concurrent symptoms of physical limitation, leg swelling, and skin hyperesthesia also improved. The clinical benefit, supported by postoperative physiotherapy, was well stabilized at 6-month follow-up, resulting in complete patient satisfaction at 12- and 36-month follow-ups. No major complications were encountered.ConclusionEthanol embolization plus surgery is a safe, effective, and long-term hybrid treatment of symptomatic FAVA lesions.

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Intergluteal Cleft Eccrine Porocarcinoma with Metastasis to Inguinal Region and Lung: Case Report and Review of the Literature

Case Reports in Oncology ◽

10.1159/000510311 ◽

2020 ◽

Vol 13 (3) ◽

pp. 1463-1473

Author(s):

Ricardo Fernández-Ferreira ◽

Gabriela Alvarado-Luna ◽

Daniel Motola-Kuba ◽

Ileana Mackinney-Novelo ◽

Eduardo Emir Cervera-Ceballos ◽

...

Keyword(s):

Medical Literature ◽

Primary Treatment ◽

Skin Tumor ◽

Inguinal Region ◽

Pertinent Literature ◽

Rare Type ◽

Localized Disease ◽

Histological Confirmation ◽

Eccrine Porocarcinoma ◽

Left Inguinal Region

Eccrine porocarcinoma (EPC) is an infrequent cutaneous neoplasm, and was described in 1963 by Pinkus and Mehregan. It is a rare type of skin tumor (0.005–0.01% of all skin tumors). Less than 300 cases have been described in the entire world medical literature. To our knowledge, no case of intergluteal cleft EPC has been reported in the literature in English and Spanish to date, so this would be the first reported case of such pathology. Metastatic EPC is less frequent, since only <10% of metastatic type have been reported and the rest as localized disease. The primary treatment of choice is surgical wide local excision of the tumor with histological confirmation of tumor-free margins. Prognosis is difficult to determine because of the rarity of EPC and the variations in natural history. There are no data to support the use of adjuvant chemotherapy or radiotherapy, and there are currently no agreed criteria to define patients at high risk of relapse. We present a 67-year-old man with intergluteal cleft eccrine tumor by biopsy. Metastasis to left inguinal region and lung was reported by contrasted abdominal and chest computed tomography. He started chemotherapy based on etoposide, vincristine, carboplatin. A review of pertinent literature is provided.

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Carcinosarcomas of the larynx: systematic review of the literature of a rare nosologic entity

European Archives of Oto-Rhino-Laryngology ◽

10.1007/s00405-021-07027-6 ◽

2021 ◽

Author(s):

Andrea Colizza ◽

Antonio Gilardi ◽

Antonio Greco ◽

Fabrizio Cialente ◽

Federica Zoccali ◽

...

Keyword(s):

Overall Survival ◽

Data Extraction ◽

Treatment Guideline ◽

Cancer Staging ◽

Spindle Cell Carcinoma ◽

Nodal Metastasis ◽

Partial Laryngectomy ◽

Rare Type ◽

Rare Malignancy

Abstract Purpose Carcinosarcoma, also known as Spindle Cell Carcinoma (SpCC), is a rare type of malignant tumor. Generally, this type of pathology occurs in the urogenital tract, the gastrointestinal tract, respiratory tract and mammary gland; in the larynx, SpCC represents only 2–3% of all malignancies. Due to its rarity, there is currently no generally acceptable treatment guideline for this disease. The aim of this study was to systematically review the literature of SpCC of larynx and report epidemiologic, clinicopathologic and main therapeutic approaches for this entity. Methods A systematic literature review was performed using MEDLINE, EMBASE, PubMed and Scopus databases. For this review, the results were extrapolated in the period between January 1990 to September 2020. Data extraction was performed using a standard registry database. The clinical and pathological staging were recalculated according to the Eight Edition of AJCC Cancer Staging Manual and statistical analyses were performed using SPSS Version 25.0. Results A total of 111 patients affected by laryngeal carcinosarcoma were included. From our review arises that surgery is the main treatment for primary laryngeal carcinosarcoma. In this way, various techniques such as minimally invasive laryngoscopy excision, laser CO2 cordectomy, partial laryngectomy (vertical and horizontal) and total laryngectomy. The role of radiotherapy is still controversial. The overall survival (OS) for T1 stage tumor at 5 years of follow-up is 82.9%, the OS for T2 and T3 tumor is 74% and 73.4%. The OS at 5 years of follow-up is 91.7% for supraglottic tumor, 69.3% for glottic tumor and 50% for transglottic site. Subglottic site is described in only 2 cases [12–13], so the OS at 5 years is not statistically significant. The 5-year overall survival in patients without lymph nodes involvement (N0) is 90.2%, 66.7% and 50%, respectively, for N1 and N2 lesions. Conclusion Primary laryngeal carcinosarcoma is a very rare malignancy. There are no clear guidelines in the management but in the literature, surgery is described as the best modality of therapy; radiation only can be a reasonable alternative with controversial efficacy. The most important prognostic factor is the nodal metastasis.

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Prolonged Survival in Patients with Metastatic HER2-Positive Inflammatory Breast Cancer: A Case Report and Review of the Literature

Case Reports in Oncology ◽

10.1159/000516760 ◽

2021 ◽

pp. 1071-1079

Author(s):

Jennifer Y. Ge ◽

Beth Overmoyer

Keyword(s):

Breast Cancer ◽

Case Report ◽

Inflammatory Breast Cancer ◽

Targeted Therapies ◽

De Novo ◽

Review Of The Literature ◽

Her2 Positive ◽

Rare Type ◽

Favorable Prognosis ◽

Poor Outcomes

Inflammatory breast cancer (IBC) is a rare type of breast cancer that is associated with poor outcomes compared with non-IBC. Overexpression of HER2 is enriched in IBC, and those with HER2-positive disease have a relatively favorable prognosis, with improved survival over the last two decades driven by the advent of novel targeted therapies. Here, we present two patients who have survived for over 10 years after being diagnosed with de novo metastatic HER2-positive IBC. We review the data for the treatments available for metastatic HER2-positive IBC and the evolving treatment recommendations for this disease.

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Prolonged Survival of a Patient with Advanced-Stage Combined Hepatocellular-Cholangiocarcinoma

Case Reports in Gastroenterology ◽

10.1159/000511034 ◽

2020 ◽

Vol 14 (3) ◽

pp. 658-667

Author(s):

Sven H. Loosen ◽

Nadine T. Gaisa ◽

Maximilian Schmeding ◽

Christoph Heining ◽

Sebastian Uhrig ◽

...

Keyword(s):

Targeted Therapy ◽

Primary Liver Cancer ◽

Advanced Stage ◽

Rare Type ◽

Treatment Protocols ◽

Genetic Landscape ◽

Standardized Treatment ◽

Genomic Studies ◽

Combined Hepatocellular Cholangiocarcinoma

Combined hepatocellular-cholangiocarcinoma (cHCC/CCA) represents a rare type of primary liver cancer with a very limited prognosis. Although just recently genomic studies have contributed to a better understanding of the disease’s genetic landscape, therapeutic options, especially for advanced-stage patients, are limited and often experimental, as no standardized treatment protocols have been established to date. Here, we report the case of a 38-year-old male patient who was diagnosed with extensive intrahepatic cHCC/CCA in an otherwise healthy liver without signs of chronic liver disease. An interdisciplinary stepwise therapeutic approach including locoregional liver-targeted therapy, systemic chemotherapy, liver transplantation, surgical pulmonary metastasis resection, and next-generation sequencing-based targeted therapy led to a prolonged overall survival beyond 5 years with an excellent quality of life. This case report comprises several provocative treatment decisions that are extensively discussed in light of the existing literature on this rare but highly aggressive malignancy.

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FOXO1 mitigates the SMAD3/FOXL2C134W transcriptomic effect in a model of human adult granulosa cell tumor

Journal of Translational Medicine ◽

10.1186/s12967-021-02754-0 ◽

2021 ◽

Vol 19 (1) ◽

Author(s):

Christian Secchi ◽

Paola Benaglio ◽

Francesca Mulas ◽

Martina Belli ◽

Dwayne Stupack ◽

...

Keyword(s):

Granulosa Cell ◽

Chromatin Remodeling ◽

Granulosa Cell Tumor ◽

Cell Tumor ◽

Rna Seq ◽

Pathogenic Role ◽

Rare Type ◽

Cellular Models ◽

Genome Wide

Abstract Background Adult granulosa cell tumor (aGCT) is a rare type of stromal cell malignant cancer of the ovary characterized by elevated estrogen levels. aGCTs ubiquitously harbor a somatic mutation in FOXL2 gene, Cys134Trp (c.402C < G); however, the general molecular effect of this mutation and its putative pathogenic role in aGCT tumorigenesis is not completely understood. We previously studied the role of FOXL2C134W, its partner SMAD3 and its antagonist FOXO1 in cellular models of aGCT. Methods In this work, seeking more comprehensive profiling of FOXL2C134W transcriptomic effects, we performed an RNA-seq analysis comparing the effect of FOXL2WT/SMAD3 and FOXL2C134W/SMAD3 overexpression in an established human GC line (HGrC1), which is not luteinized, and bears normal alleles of FOXL2. Results Our data shows that FOXL2C134W/SMAD3 overexpression alters the expression of 717 genes. These genes include known and novel FOXL2 targets (TGFB2, SMARCA4, HSPG2, MKI67, NFKBIA) and are enriched for neoplastic pathways (Proteoglycans in Cancer, Chromatin remodeling, Apoptosis, Tissue Morphogenesis, Tyrosine Kinase Receptors). We additionally expressed the FOXL2 antagonistic Forkhead protein, FOXO1. Surprisingly, overexpression of FOXO1 mitigated 40% of the altered genome-wide effects specifically related to FOXL2C134W, suggesting it can be a new target for aGCT treatment. Conclusions Our transcriptomic data provide novel insights into potential genes (FOXO1 regulated) that could be used as biomarkers of efficacy in aGCT patients.

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Mood symptoms Associated with CADASIL Syndrome: A Case Report

CNS Spectrums ◽

10.1017/s1092852920002278 ◽

2021 ◽

Vol 26 (2) ◽

pp. 144-144

Author(s):

Asad Shaikh ◽

Joel Idowu

Keyword(s):

Case Report ◽

Clinical Symptoms ◽

Psychiatric Symptoms ◽

Small Vessel Disease ◽

Altered Mental Status ◽

Hereditary Disease ◽

African American Female ◽

Psychiatric Disturbance ◽

Rare Type ◽

Parietal Lobes

AbstractObjectiveTo discuss the psychiatric symptoms that are associated with CADASIL syndrome Abstract Cerebral:Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare type of hereditary disease involving the small cerebral vessels. The clinical symptoms are various and include recurrent ischemic strokes, migraine with aura, seizures with epilepsy, psychiatric problems such as mood disturbances, and progressive cognitive decline leading to dementia. This disease needs awareness amongst the psychiatrists even though it is discussed much more in neurology literature. Psychiatric symptoms are seen in 20–41% of patients with CADASIL syndrome (1, 2). Psychiatric symptoms are actually the initial presentation in 15% of the cases. (3) The psychiatric disturbance most reported are mood disturbances (9–41%) especially depression. Here a 42-year-old African American female was brought to the hospital emergency room after she was found wandering in the streets. Psychiatry was consulted for altered mental status. Upon evaluation by the psychiatric consult service she was only oriented to person, depressed, anxious and complaining of headaches. Initial CT scan showed marked small vessel disease and old lacunar infarcts in the basal ganglia and right corona radiata. Magnetic Resonance Imaging (MRI) of the brain showed acute infarcts in the right posterior frontal and right parietal lobes along with old infarcts. Her symptoms and findings on imaging were consistent with CADASIL syndrome. Once the diagnosis was confirmed and prior records were obtained patient was resumed on an antidepressant and anxiolytic.ConclusionThe purpose of this case report was to discuss psychiatric symptoms associated with CADASIL syndrome. Although there has been research showing a relationship between vascular disease and depression, a review of the literature suggests that there needs to be more research done to explore other psychiatric disturbances that may be seen with this syndrome. Psychiatric symptoms that are untreated can have the potential to further impact the quality of life therefore psychiatrists need to be aware of this syndrome in order to treat these patients promptly.References1 https://bmcmedicine.biomedcentral.com/articles/10.1186/s12916-017-0778-8 2 http://dx.doi.org/10.32474/OJNBD.2018.01.000101 3 https://pdfs.semanticscholar.org/47f6/5952ee3c5dcf2a61345f704914b17fa8dc0d.pdf

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