Journal of Clinical Case Reports

We present a case of a 21-year-old gentleman with background history of moderate learning disability, Type 1 Diabetes Mellitus and elevated ALT. Due to incidental finding of a double apical impulse and abnormal ECG was referred for cardiology review. His echocardiogram findings triggered a cascade of other investigations which eventually resulted into genetic testing that confirmed Danon disease.

He had a high HCM risk-SCD score and therefore had an ICD implant but unfortunately due to poor diabetic control, he was unlisted from heart transplant list. About 5 years after his formal diagnosis, he developed decompensated and congestive heart failure despite optimal medical therapy. He unfortunately passed away due to end-stage heart failure.

Iron deficiency is a common cause of anemia in premenopausal women. Thrombocytopenia is rarely found in association with iron deficiency anemia (IDA), and its mechanism is not fully understood. Here, we present the case of a 41-year-old African-American woman who was found to have severe asymptomatic thrombocytopenia (platelet count 22,000/μL) in association with more moderate IDA (hemoglobin 8.5 g/dL). Both cytopenias resolved with oral iron replacement therapy in the absence of other therapeutics, such as corticosteroid therapy, and a diagnostic workup revealed no other cause for thrombocytopenia. We conclude that iron deficiency-associated thrombocytopenia should be considered in any case of thrombocytopenia accompanying IDA. Response of both anemia and thrombocytopenia to iron therapy should obviate the need for expensive evaluations and bone marrow examination.

Congenital vascular rings is an unusual congenital condition and severely affects the survival and life quality of the patients. A 23-year-old gravid woman was referred for counseling at 24 weeks of gestation because of abnormal ultrasound findings of fetal congenital vascular ring. Fetal echocardiography showed a complete vascular ring with a right aortic arch (RAA), left ductus arteriosus (LDA) and left intracardia echogenicfocus. Conventional cytogenetic analysis revealed an apparent balanced reciprocal translocation between the distal segment of the long arm of a chromosome 5 and the long arm of chromosome 2: 46, XY, t (2;5) (q3.5; q31.1). This abnormal karyotype was detected in gravid woman. However, the microarray analysis on amniocytes using HumanCytoSNP-12 array detected 2.57-Mb deletion at 22q11.21. Metaphase fluorescence in situ hybridization (FISH) analysis on cultured amniocytes confirmed an interstitial 22q11.2 deletion. The fetus was died owing to breathing and feeding difficulties. Our study highlights the clinical value of genetic detection and prenatal diagnosis of Congenital vascular rings by karyotype analysis coupled with SNP array.

Background: Neuroendocrine breast tumors may be primary or secondary with a fairly rare frequency; The diagnosis is based on the results of the pathological findings and the characterization between the primary and secondary origin is guided by the data of radiology (echomammography), the pathological and immunohistochemistry examinations as well as the data reported by the octreoscanner. Case presentation: We describe here a case of a 70-year-old patient who had a dorsal pain for six months. A Scan of rachis showed a tumoral process of the vertebral body of D2 extending intramedullarily. The realization of a thoraco abdomino-pelvic CT scan as part of an assessment of extension, revealed the presence of a left mammary nodule with diffuse liver metsatases. Liver and breast biopsy evoking a localization of a neuroendorin tumor. Conclusion: This presentation reveals that the Differentiation between primary or secondary neuro endocrine breast tumor is based on the results of the pathological, immunohistochemical findings and radiological characteristics. In the absence of a generalized metastatic disease, the treatment is similar to Invasive breast tumors, under metastasis conditions. The treatment consists of various therapetical modalities including chemotherapy, hormonotherapy targeted therapies.

This is the first documented case report of a simultaneous middle cerebral artery (MCA) aneurysmal subarachnoid hemorrhage (aSAH) and remote third ventricular clot. The occurrence of simultaneous subarachnoid hemorrhage and remote hypertensive intracerebral hemorrhage (ICH) is a rare occurrence and has only been reported three previous times in the literature. Intraventricular hemorrhage (IVH) post aneurysmal subarachnoid hemorrhage is common, where peri-ventricular intracerebral clot has ruptured the ependymal lining. However primary intraventricular hemorrhage (PIVH) without associated parenchymal clot is rare. Migration of blood via outlet foramina of the fourth ventricle through CSF pulsation and flow is thought to be the mechanism for this occurrence and would account for small volumes in the subacute setting. Here, we present a case of a 52-year-old woman with a CT demonstrated spontaneous middle cerebral artery (MCA) bifurcation aneurysmal subarachnoid hemorrhage and a large acute third ventricular clot spanning the foramen Monroe.

Spontaneous heterotopic pregnancy is an uncommon condition that may result in maternal morbidity and mortality when not diagnosed early. In our case, a patient with severe pelvic pain and poor general condition presented to the emergency obstetric clinic and underwent transvaginal ultrasonography to find alive 7-week (crown-rump length: 6.5 mm) right-tubal pregnancy along with a live 7-week (crown-rump length: 8.2 mm) intrauterine pregnancy. Emergency laparotomy was performed due to the acute abdomen characterized by hemoperitoneum. And in term delivery was performed for the unharmed intrauterine pregnancy. Even if intrauterine pregnancy is detected in a patient presenting with abdominal pain, the possibility of heterotopic pregnancy should always be kept in mind and ruled out. Here we describe a case of spontaneous heterotopic pregnancy presenting with symptoms of acute abdomen in the light of the relevant literature.

Bone sarcomas are a rare group of tumors arising mostly in the extremities, being the undifferentiated pleomorphic sarcoma (UPS), also known as malignant fibrous histiocytoma, the most common. UPS exhibits a wide spectrum of clinical behavior and a diagnosis challenge. We report a clinical case of a proximal humeral UPS that presented with a non-recognized pathological fracture, initially treated with open reduction and internal fixation. Suboptimal postoperative management of the patient, leading to a diagnosis delay, occurred related to its hematoid transformation, a variant of aggressive high-grade sarcoma associated with a worse prognosis. Pulmonary embolic complication, external axillary vein compression, rapidly tumor growth and diffuse metastization were some characteristics. Abrupt disease development makes important to recognize the clinical features of those tumors, so better outcomes can be obtained.

Transdermal buprenorphine is an opioid analgesic used in the management of moderate-severe pain via transdermal pathway. The case series is to discuss the efficacy and safety of transdermal buprenorphine (Sovenor®) in elderly patients with chronic low back pain under renal function impairment condition.

We presented 4 cases demonstrating successful therapy in management of chronic severe low back pain in elderly, who were with poor renal function. Transdermal buprenorphine benefited significantly in those patients’ symptoms, and the elderly tolerated transdermal buprenorphine well under good compliance..

In conclusion, transdermal buprenorphine is effective in treating chronic neuropathic pain, and to be a safe analgesic for the elderly. In light of evidence for efficacy, safety, tolerability, and cost, physicians may consider transdermal buprenorphine as the priority choice as pain management in the elderly.

Vacuum-Assisted Closure (VAC) in association to flap reconstruction is a well-established approach for treating complicated wounds.

The authors present a case of soft-tissue breakdown with hardware exposure in a patient treated with modified Ravitch procedure for pectus excavatum. VAC therapy was applied in association to multiple debridement procedures and final flap closure. This was achieved without the need for hardware removal, thus maintaining adequate skeletal fixation. To our knowledge this approach has not yet been described into the literature after sternochondroplasty procedure.

Aggressive debridement and VAC therapy before final closure may represent a new, conservative method for managing surgical complications after sternochondroplasty procedures.