OpenMed/multicare-articles huggingface dataset:
Case Report: Glycogen Storage Disease Type Ia in a Chinese Child Treated With Growth Hormone
Authors: Shimin Wu, Shusen Guo, Lina Fu, Caiqi Du, Xiaoping Luo
Journal: Front Pediatr (2022)
Keywords: g6pc gene, gsd ia, compound heterozygous variant, growth hormone treatment, growth retardation
MeSH terms: Case Reports

Background:
Glycogen storage disease type Ia is a rare metabolic disorder that leads to excessive glycogen and fat accumulation in organs, characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, hyperuricemia, puberty delay, and growth retardation. Here, we report on a patient with glycogen storage disease type Ia treated with growth hormone.
Case presentation:
A 10-year-old boy had growth retardation for 6 years, and was admitted to clarify the cause of his short stature. We found that his bone age was 5.5 years, significantly lower than his physical age, while his serum IGF-1 and IGFBP-3 were 23.30 and 1620.0 ng/mL, respectively, both lower than normal. His medical history revealed that he had suffered from steatohepatitis, hyperlipidemia, and hypoglycemia since he was 11 months of age. Whole exome sequencing (WES) showed compound heterozygous mutations in exons 2 and 5 of the glucose-6-phosphatase (G6PC) gene on chromosome 17: c.G248A (p.R83H) and c.G648T (p.L216L). The patient was finally diagnosed with GSD Ia. After growth hormone (GH) treatment and corn starch therapy for 14 months, his height significantly increased (by 13 cm). The serum IGF-1 level increased to the normal range but his lipid levels and liver function did not significantly increase.
Conclusion:
We describe a young patient with a compound heterozygous G6PC variant in a Chinese family; his height increased significantly after growth hormone and corn starch interventions. This case emphasizes that WES is essential for early diagnosis, and that growth hormone treatment may increase the height of patients with GSD Ia safely.
Totally endoscopic ventricular septal defect repair using bilateral femoral arterial cannulation in an 8-year-old girl
Authors: Huy Q Dang, Huong T Le
Journal: Int J Surg Case Rep (2019)
Keywords: femoral arterial cannulation, robotic surgery, totally endoscopic surgery, ventricular septal defect

Introduction:
There are few reports on applying totally endoscopic surgery (TES) for repairing ventricular septal defect (VSD), especially in children.
Case presentation:
We described an 8-year-old girl, weighing 17 kg, who was diagnosed with peri-membranous VSD and patent ductus arteriosus (PDA). The patient had undergone trans-catheter PDA closure first, and 3 weeks later, TES was performed for VSD repair through 4 small trocars (one 12 mm trocar and three 5 mm trocars) without robotic assistance. Arterial line was set up indirectly to the right femoral artery (FA) through a graft with an additional line to the left side for reducing arterial pressure.
Discussion:
FA cannulation in small children induce some risks, such as: FA trauma, critical lower limb ischaemia, and iliac or femoral arterial stenosis. Our new method of FA cannulation was safe with 13 months of follow-up. The major concerns in this case were repairing VSD through small trocars in a small child.
Conclusion:
Bilateral FA cannulation and the way to set up small trocars may facilitate totally endoscopic VSD repair in small children. However, the safety and efficacy of these approaches needs to be validated by larger studies preferably randomised controlled trials.
A Case of Infrapatellar Fat Pad Ganglion of the Knee
Authors: Tsuneari Takahashi, Masashi Kimura, Takashi Ohsawa, Naoki Yamaguchi, Katsushi Takeshita
Journal: Open Orthop J (2017)
Keywords: arthroscopy, ganglion, infrapatellar fat pad, knee, meniscus
MeSH terms: Review

Introduction:
A ganglion cyst can induce symptoms around the knee and should be considered as an intra-articular mass in differential diagnosis.
Case presentation:
A 22-year-old female presented with a persistent medial knee joint pain in her left knee for 2 years. There was soft tissue swelling on the anteromedial aspect of the infrapatellar region on her left knee. Lachman and McMurray tests were negative. MRI showed a multilobular cyst in the infrapatellar fat pad with T1 low intensity and T2 STIR high intensity. The cyst was not attached to either meniscus. ACL and PCL looked normal.During surgery, the cyst was found to arise from the intra-patellar fat pad and was not attached to the menisci or synovium. The cyst was completely resected.Histological findings showed a multilobular cyst with a glassy fibrous tissue wall and clear jelly-like consistency, confirming the diagnosis of a ganglion. The patient recovered asymptomatically and has been without recurrence 7 years postoperatively.
Conclusion:
Differential diagnoses of an infrapatellar swelling are a meniscal cyst, synovial cyst, or ganglion. Most cases of cysts around the knee generate from fluid collection through meniscal tears. A ganglion cyst is a synovium-lined structure and is common around the wrist joint, but rare in the knee joint. A ganglion cyst in the knee joint often arises from ACL or PCL, but rarely arises from the infrapatellar fat pad. A ganglion cyst is one of the differential diagnoses of parameniscal cysts around the knee. We recommended an open resection with arthroscopic examination.
Erosive Pustular Dermatosis of the Scalp with Urate-Like Crystals
Authors: Patrick O Emanuel, Sharad P Paul
Journal: Case Rep Dermatol Med (2017)
MeSH terms: Case Reports

Follicular urate-like crystals were first described in Necrotizing Infundibular Crystalline Folliculitis (NICF), a rare cutaneous disorder with multiple waxy folliculocentric papules. Similar crystal accumulation may be seen within follicular infundibulae as an incidental finding. We describe a case showing identical crystals occurring within the horn-like crusts of a patient with erosive pustular dermatosis of the scalp (EPDS), a condition which due to its presentation can often be mistaken for nonmelanoma skin cancer. A brief overview of erosive pustular dermatosis of the scalp (EPDS) is presented in this paper.
Primary Hyperparathyroidism due to Parathyroid Adenoma Originated from Supernumerary Gland
Authors: Fernando Mendoza-Moreno, Ángel Rodriguez-Pascual, María Rocío Díez-Gago, Marina Pérez-González, Laura Jiménez-Alvárez, Isabel Furtado-Lobo, Manuel Díez-Alonso, Fernando Noguerales-Fraguas
Journal: Case Rep Otolaryngol (2018)
MeSH terms: Case Reports

Introduction:
The variability of the location of the parathyroid glands is directly related to the events that occur during embryonic development. The impact that an individual submits more than four parathyroid glands is close to 13%. However the presentation of a parathyroid adenoma in a supernumerary gland is an uncommon event.
Case report:
A 30-year-old man diagnosed with primary hyperparathyroidism with matching findings on ultrasonography and scintigraphy for parathyroid adenoma localization lower left regarding the thyroid gland. A cervicotomy explorer showed four orthotopic parathyroid glands. The biopsy of the inferior left gland was normal. No signs of adenoma were seen in the biopsy. Following mobilization of the ipsilateral thyroid lobe, fifth parathyroid gland was found increased significantly in size than proceeded to remove, confirming the diagnosis of adenoma. After the excision, the levels of serum calcium and parathyroid hormone were normalized.
Conclusions:
The presentation of a parathyroid adenoma in a supernumerary gland is a challenge for the surgeon. The high sensitivity having different imaging techniques has been a key to locate preoperatively the pathological parathyroid gland. Analytical or clinical persistence of primary hyperparathyroidism after parathyroid surgery can occur if the location of the adenoma is a supernumerary or ectopic gland location.
Lymphopenia With Clinical and Laboratory Features of Combined Immune Deficiency in an 11-Year-Old Female With FANCD2 Variants and Fanconi Anemia
Authors: Roman Deniskin, Ghadir S Sasa, Sarada L Nandiwada, Nicholas L Rider
Journal: Front Pediatr (2019)
Keywords: fa-d2, fancd2, fanconi anemia, immune deficiency, recombination
MeSH terms: Case Reports

Fanconi anemia (FA) is an inherited bone marrow failure and cancer predisposition disorder due to mutations in DNA repair pathways proteins (FANC). The dysfunctional proteins are unable to repair DNA breaks and cause genomic instability. Mutations in many of the 19 FANC genes are well characterized biochemically and clinically. Little is known about the FANCD2 gene which acts downstream of the FA-core proteins. Here we report a 11-year-old female previously diagnosed with FA and bone marrow failure. Gene sequencing demonstrated deletion of exons 2-18 and a pathologic missense mutation (c. 2444G>A, p. Arg815Gln) in FANCD2 (Chr3). Her medical history is significant for an episode of pneumococcal sepsis despite adequate vaccination. Repeated blood samples and immunophenotyping demonstrated severe lymphopenia. There were markedly low CD4+ T-cell counts with a low CD4:CD8 ratio. Changes in the composition of the B-cell population included significantly diminished absolute total B-cells, and decreased mature cells. There was no immunogenic response to vaccination against S. pneumoniae. The NK-cell count was unaffected and demonstrated normal spontaneous and stimulated cytotoxic response. Bone marrow analysis demonstrated hypocellularity without dysplasia. The clinical and laboratory features are suggestive of combined immune deficiency. FANCD2 may be involved in the transition of immature B and T cells to mature cells, a process that requires substantial DNA recombination not observed in NK cells. Additional genetic and biochemical evaluation is needed to further characterize the novel genetic and clinical findings.
Hepatoid adenocarcinoma of the duodenal papilla with hepatic metastases: A case report and literature review
Authors: Lu Han, Naiqing Ding, Li Li, Xiao Wei, Jing Hu, Baorui Liu, Xiaoping Qian
Journal: Front Oncol (2022)
Keywords: alpha- fetoprotein (afp), hepatic metastases, hepatoid adenocarcinoma, hepatoid adenocarcinoma of the duodenum, immunohistochemical
MeSH terms: Case Reports

Hepatoid adenocarcinoma of the duodenum is a rare special type of adenocarcinoma, featured by hepatocyte components in primary adenocarcinoma of the duodenum. It has the characteristics of high malignancy, invasiveness, rapid progress, and poor prognosis. An abnormal elevation of serum alpha-fetoprotein (AFP) may occur in most cases. The diagnosis is mainly based on pathological morphology. Here, we reported a case of hepatic adenocarcinoma of the duodenum. The middle-aged female patient had an ampulla mass at diagnosis and received radical pancreaticoduodenectomy. The postoperative pathology was stage IIIA duodenal adenocarcinoma. At 1 month after surgery, she had multiple intrahepatic metastases and retroperitoneal lymph node metastasis; the AFP level was 300 ng/ml at that time. As she refused target therapy, two cycles of capecitabine-oxaliplatin (XELOX) chemotherapy were performed. However, the AFP elevated from 300 to 1,931.90 ng/ml, and the disease progressed rapidly. Immunohistochemistry (IHC) of tissue samples from presurgical endoscopic ultrasound guided fine needle aspiration (EUS-FNA), surgery, and liver biopsy showed positive AFP staining. Combining the abnormal elevation of serum AFP and microscopic pathological morphology, this case is diagnosed as hepatoid adenocarcinoma of the duodenum with liver metastasis. The physical condition of this patient was too poor to receive follow-up treatment. She died of the rapid disease progression with an overall survival time of 161 days. Considering that in most patients with hepatoid adenocarcinoma the abnormal elevation of serum AFP occurs preoperatively and returns to normal postoperatively rather than normal before surgery and increased after surgery, the primary lesion is located in the stomach rather than the intestine, and the patients are more often older men rather than middle-aged women; this case is rare particularly. Therefore, reporting this case with complete case data may be helpful to further study, so as to improve the understanding of this special type of malignant tumor.
Structure-based analysis of A19D, a variant of transthyretin involved in familial amyloid cardiomyopathy
Authors: Priscila Ferreira, Ricardo Sant'Anna, Nathalia Varejão, Cinthia Lima, Shenia Novis, Renata V Barbosa, Concy M Caldeira, Franklin D Rumjanek, Salvador Ventura, Marcia W Cruz, Debora Foguel
Journal: PLoS One (2013)
MeSH terms: Amyloidosis / metabolism, Cardiomyopathies / metabolism, Prealbumin / metabolism, Case Reports, Amyloidosis / genetics, Cardiomyopathies / genetics, Humans, Male, Mutation, Prealbumin / genetics, Protein Denaturation, Protein Structure, Quaternary, Prealbumin

Transthyretin (TTR) is a tetrameric beta-sheet-rich protein. Its deposits have been implicated in four different amyloid diseases. Although aggregation of the wild-type sequence is responsible for the senile form of the disease, more than one hundred variants have been described thus far, most of which confer a more amyloidogenic character to TTR, mainly because they compromise the stability of the protein in relation to monomer formation, which upon misfolding is intrinsically aggregation-prone. We report the case of a Brazilian patient suffering from a severe cardiomyopathy who carries a rare mutation in exon 2 of the TTR gene that results in an Ala to Asp substitution at position 19 (A19D). The putative pathogenic mechanisms of this variant were analyzed in silico. We constructed a structural model for the A19D tetramer from which its thermodynamic stability was compared to that displayed by the V30M (more amyloidogenic than WT-TTR) and T119M (non-amyloidogenic) variants. The FoldX force field predicted that A19D and V30M are 10.88 and 8.07 kCal/mol less stable than the WT-TTR, while T119M is 5.15 kCal/mol more stable, which is consistent with the aggregation propensities exhibited by these variants. We analyzed the step in which the tetramer-dimer-monomer-unfolded monomer equilibrium might contribute the most to the increased or decreased amyloidogenicity in each variant. Our results suggest that the concentration of four non-native negative charges occur inside thyroxine-binding channels, and the loss of contacts at both the tetrameric and dimeric interfaces would account for an overall decreased stability of the tetramer and the consequent enhanced amyloidogenicity of the A19D variant. As far as we know, this is the first description of a non-V30M mutation in Brazil.
Persistent Hiccups-An Unusual Presentation of Bilateral Pheochromocytoma without Syndromic Association: A Case Report
Authors: Nitin Aherrao, Nilesh Kumar, Indarajeet Singh Gambhir, Dhiraj Kishore, Suryakumar Singh, Abhinandan Mishra, Aravind Anand
Journal: Case Rep Endocrinol (2012)

Pheochromocytoma is a rare catecholamine-producing tumor arising from chromaffin tissue in the adrenal medulla, occurring in less than 0.2 percent of patients with hypertension. The mean age at diagnosis is about 40 years. Pheochromocytomas are commonly inherited as features of multiple endocrine neoplasia type 2 or several other pheochromocytoma-associated syndromes and have variable clinical presentation. Among the presenting symptoms, episodes of palpitations, headaches, and profuse sweating are typical and constitute a classic triad. We report a case of a 17-year-old male patient with rare bilateral pheochromocytoma presenting with persistent hiccups for 4 months and blurring of vision for 1 week, later followed by hypertensive crisis. There was neither family history of pheochromocytoma nor any classic symptoms. Patient was diagnosed with bilateral pheochromocytoma without any syndromic association. But still this patient needs to be followed for future development of medullary carcinoma of thyroid because it could be an initial presentation of MEN 2A/2B/VHL syndromes. Our paper highlights the importance of maintaining a high level of suspicion for persistent hiccups and careful clinical screening for hypertension even in absence of associated syndromes of pheochromocytoma and classical symptoms to achieve prompt diagnosis and to avoid improper management.
Successful Management of Refractory Headache and Facial Pain due to Cavernous Sinus Meningioma with Sphenopalatine Ganglion Radiofrequency
Authors: Foad Elahi, Kwo Wei David Ho
Journal: Case Rep Neurol Med (2014)

Headaches and facial pain can be extremely difficult to manage for the patient and the clinician. In the medical literature, it has been suggested that the autonomic reflex plays an important role in the pathophysiology of facial neuralgia. The sphenopalatine ganglion is the largest parasympathetic ganglion outside the cranium. It is an easy accessible target for pain management. The application of radiofrequency nerve ablation was described in the medical literature. In this case report, we describe a 54-year-old female. She was diagnosed with a cavernous sinus meningioma. She underwent surgical resection and gamma knife radiosurgery. She was suffering from an intractable hemifacial pain for many years. Her pain started shortly after surgery and continued throughout many years. Sphenopalatine ganglion block in multiple occasions was able to provide temporary relief. The patient's intractable hemicranial headaches and hemifacial pain responded to the sphenopalatine ganglion radiofrequency nerve ablation. The pain response remained unchanged for 12 months after procedure. This case report increased our current knowledge about the sphenopalatine ganglion role in the headache and facial intractable pain management. The failure of available antalgic medications to adequately control pain in similar patients underscores the need to develop an algorithm for therapies.
Tislelizumab immunotherapy combined with chemotherapy in the treatment of a patient with primary anterior mediastinal undifferentiated pleomorphic sarcoma with high PD-L1 expression: A case report and literature review
Authors: Hujuan Yang, Zhiquan Qin, Xianglei He, Qian Xue, Hongying Zhou, Jie Sun, Xiaoyi Li, Tongwei Zhao
Journal: Front Oncol (2023)
Keywords: immune checkpoint inhibitors, immunotherapy, mediastinal tumor, tislelizumab, undifferentiated pleomorphic sarcoma
MeSH terms: Case Reports

Undifferentiated pleomorphic sarcoma (UPS) is a rare and aggressive soft tissue tumor with a high degree of malignancy and rapid progression, usually occurring in the extremities, retroperitoneum, and abdomen, whereas it rarely arises in the mediastinum, and is treated mainly by surgical resection. The prognosis of patients with advanced sarcoma is poor, and doxorubicin monotherapy is the standard first-line chemotherapy for most advanced soft tissue sarcomas (STS), but the prognosis is generally unsatisfactory. Immune checkpoint inhibitors (ICIs) have been established as therapies for many solid cancers in recent years; however, evidence on the efficacy of ICIs in undifferentiated sarcoma is scarce, mostly consisting of small studies, and no ICIs are currently approved for use in sarcomas. We report a case of a middle-aged man with primary mediastinal UPS with high PD-L1 expression (TPS was approximately 80%) and TLS positive. The patient was treated with sequential tislelizumab monotherapy maintenance after 6 cycles of tislelizumab combined with epirubicin, efficacy evaluation was partial remission (PR), progression-free survival (PFS) was 8.5 months, and grade 1 fatigue was identified as an adverse event.
Case Report: Primary melanoma of the gastroesophageal junction
Authors: Yasmine Hussein Agha, Nathaniel A Parker, Joel Alderson
Journal: F1000Res (2020)
Keywords: esophageal melanoma, esophageal neoplasms, gastroesophageal junction, melanoma, rare diseases
MeSH terms: Esophageal Neoplasms / diagnosis, Esophagogastric Junction / pathology, Melanoma / diagnosis, Case Reports, Aged, 80 and over, Esophageal Neoplasms / pathology, Fatal Outcome, Humans, Male, Melanoma / pathology, United States

Primary malignant melanoma represents the fifth most common cancer in the United States. It is subdivided into two forms: cutaneous (90%), visceral (8%, including ocular and mucosal) and of unknown primary (2%). The vast majority of gastrointestinal melanomas are secondary lesions until proven otherwise. Primary esophageal melanoma in particular is exceedingly rare, less than 200 cases have been documented in the literature to date. It is highly prevalent in Japan and occurs twice as much in men than women around the 6th decade of life. It has a predilection for the middle and lower esophagus, with only 6 cases occurring at the gastroesophageal junction worldwide. Its etiology and pathogenesis are poorly understood, and no curative treatment has been established given the paucity of cases. We present a case of primary melanoma of the gastroesophageal junction which represents the 2nd incident case in the united states and 7th worldwide.
Follicular Dendritic Cell Sarcoma With Co-Expression of CD4 and CD30 Mimics Anaplastic Large Cell Lymphoma
Authors: Hui Liu, Chenxi Xiang, Mei Wu, Shimin Hu
Journal: Front Oncol (2020)
Keywords: cd30, cd4, follicular dendritic cell sarcoma, anaplastic large cell lymphoma, pathologic spectrum
MeSH terms: Case Reports

Follicular dendritic cell sarcoma (FDCS) is a low-grade malignant neoplasm that tends to be under-recognized owing to its rarity and wide pathologic spectrum. Knowledge of the atypical morphology and immunophenotype of FDCS is critical to avoid misdiagnosis. Here we presented a case of extranodal FDCS with an unusual morphology and a previously unreported immunophenotype leading to misdiagnosis. A 32-years-old man presented with a tonsilar mass that showed epithelioid cells in nested and alveolar patterns. Immunohistochemistry study revealed that the tumor cells were positive for CD4 and CD30, and were negative for cytokeratin, CD3, CD20, CD68, CD163, lysozyme, ALK, S-100, and desmin. Multiple outside expert consultations rendered a consensus diagnosis of ALK-negative anaplastic large cell lymphoma (ALCL). The patient received multiple lines of chemotherapy and radiotherapy. However, the residual tumor progressively enlarged eight months later and a more complex morphology was presented in the re-excised tumor: including spindle cells with vesicular nuclei and nuclear pseudoinclusions in fascicles or a whorled pattern, and plump ovoid cells arranged in meningioma-like whorls as well as epithelioid tumor cells similar to the initial biopsy. All these three components were positive for CD4, CD21, CD23, and CD35. The diagnosis was revised to FDCS after a positive immunostaining for CD21, CD23, and CD35 on the initial specimen was confirmed retrospectively. A literature review identified 57 cases of FDCS published from 2009 through 2019, and 13 (22.8%) of them were misdiagnosed at initial presentation. Among these misdiagnosed cases, all except one case were extranodal, and the incorrect initial diagnosis was mostly location-related. These cases expand the pathologic spectrum of FDCS, and further emphasize the necessity for pathologists to stay alert for this rare entity, bringing FDCS into the differentials for any spindle cell tumors, undifferentiated epithelioid cell tumors, and ALCL to avoid misdiagnosis.