Journal of Clinical Case Reports

birth defect disease all the world. The phenomenon of 46XX/46XY chimeras was reported very rarely. In many cases, they were diagnosed at birth, because of the presence of ambiguous external genitalia. A case of the phenomenon of 46XX/46XY chimeras has been described in this report. Case presentation: A 23-year-old woman at 19 weeks of gestation was transferred to our hospital due to fetal chromosomal abnormalities of antenatal diagnosis. There was no abnormality of appearance through past medical history and ultrasonic examination, and hormonal levels also were normal. The peripheral blood of the patient and umbilical cord blood of fetus were detected to analyze using karyotype analysis, it showed that abnormal 46XX/46XY chimera of patient and abnormal 46XYY karyotype of fetus observed during prenatal diagnosis performed. Then copy number variation (CNV) of her genome sequence showed the sex-determination gene SRY was completely lost on her Y chromosome, even including some other male characteristic gene also were lost. According to sequencing analysis results showed that Y chromosome CNV attribute to the normal female phenotype of 46XX/46XY chimerism. Discussion and Conclusions: The case presented here further describe a novel, fast target-next generation sequencing method, which devotes to find gene deletion or mutation of chromosome abnormality.

Hepatocellular carcinoma (HCC) metastasizing to the skin is uncommon and carries a poor prognosis. The most frequent sites of skin metastasis are the face and scalp. Cutaneous metastatic lesions usually appear as nodules, but sometimes show a pyogenic granuloma-like morphology. We report a case of multiple skin metastases from HCC that resembled pyogenic granulomas, and showing HepPar1 as a specific marker of HCC. A key feature in this case was metastasis to the mandibular gingiva and digits. This case emphasizes the need to recognize that gingival and digital masses like benign or inflammatory lesions might represent an initial sign of HCC.

Background: Bilateral ruptured ectopic pregnancy is the rupture of two implanted product of conception outside of the uterine cavity. Bilateral ruptured ectopic pregnancy without an initial induction of ovulation is extremely rare. It’s occurrence with a major life threatening complication such as massive hemo-peritonium worsens the prognosis. Immediate diagnosis and surgical intervention is required. Few cases have been identified. Case report: We report the case of bilateral ruptured ectopic pregnancy with massive hemo-peritonium diagnosed in a 28-year- old female and managed at African Genesis Health Clinic Yaoundé. Discussion and Conclusion: prompt diagnosis and surgical intervention is needed to improve the prognosis related to bilateral ruptured ectopic pregnancies with massive hemo-peritonium. Counseling for assisted means of procreation is important.

Valproate is an antiepileptic drug which is commonly used for the treatment of focal and/or generalized epilepsy and mood disorders. Valproate is one of the safest first line antiepileptic drug, but like any other drug, it has adverse effects such as nausea, vomiting, drowsiness, tremors, alopecia, menstrual irregularities, polycystic ovarian disease, hepatotoxicity, pancreatitis, thrombocytopenia and rarely hyperammonemia etc. We have reported a case of 22-years-old female of idiopathic generalized epilepsy admitted with eptoin toxicity and subsequently she developed valproate induced non-hepatic hyperammonemia encephalopathy during her hospital stay. Valproate was withheld immediately, and her symptoms resolved after 48 hours.

Survival after an acute aortic dissection type A unoperated is exceptional. We present the case of a 74-years-old male patient with multiple cardiovascular risk factors, presented mainly with severe dyspnoea of increasing intensity. Echocardiography and computer tomography angiography showed a large ascending aortic aneurysm (with a diameter of 10.8 cm) without aortic valve insufficiency, which started at 7 cm above the sinotubular junction, with a parietal thrombus occupying more than 30% of the circumference and its distal end at 5 cm after the aortic arch. This aneurysm was due to the evolution of an acute aortic dissection type A that was diagnosed five years prior to the current admission, which was not operated because the patient refused the surgical procedure at that time. Also, severe mediastinum displacement to the right with compression effect on the lung was revealed on the computer tomography. There are just a few cases in the literature diagnosed after acute aortic dissection type A unoperated who survived so long. In this context, he underwent surgical ascending aortic replacement with a prosthetic graft. The patient’s postoperative evolution was uneventful.

POEMS syndrome is a paraneoplastic syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyradiculoneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease. Minor features include organomegaly, endocrinopathy, characteristic skin changes, papilledema, extravascular volume overload, and thrombocytosis.

Purpose: The obesity is a metabolic disturbance which is associated with blood hypercoagulability. The purpose of the study was to evaluate if the bariatric procedure increases the risk of thromboembolic complications in morbidly obese patients. Methods: The study involved 38 patients with BMI over 35 who underwent laparoscopic gastric banding. The reference group consisted of 30 surgical patients. The following parameters were examined: Tissue Factor (TF) antigen (TF: Ag) and activity (TF: Ac), its inhibitor - Tissue Factor Pathway Inhibitor (TFPI) antigen (TFPI: Ag) and activity (TFPI: Ac), concentration of thrombin/antithrombin complexes (TAT) and activity of antithrombin (AT). Results: Bariatrics patients had significantly higher levels of TF: Ag (151,9)(p<0.04) and TF: Ac (1,42)(p<0.05) in comparison with reference group (91,3 and 0.1 respectively). Similar was with TFPI, where its TFPI: Ag (85,3) TFPI: Ac (1.16) were higher compared to reference group (67.3 and 1.1 respectively) however the differences did not reach statistically significant level. The level of TAT complexes was also significantly higher in morbidly obese patients (16,7 vs 8.3) (p<0.031) but the activity of AT III was similar in both groups. Based on above in morbidly obese patients a hypercoagulable state can be recognized which was caused by TF. After procedure TF:Ag was almost in the same level as before with the same tendency to reference group (p<0.05) however IF:Ac was insignificant lower (p<0.48). Similar tendency was observed with other parameters which was an evidence for persistent hypercoagulable state despite of a postoperative decrease of TF activity (p<0.27). This means that the bariatric procedure did not influence on blood coagulation of morbidly obese patients. In multivariate regression analysis was shown that only BMI, history of deep vein thrombosis or history of pulmonary complications are an independent factor of postoperative complications connecting with haemostasis. Conclusions: Laparoscopic bariatric procedures are not at increased risk of thromboembolic complications in morbidly obese patients.

Salivary gland tumors are relatively uncommon tumors, accounting approximately 3-10% of head and neck neoplasm. Most of them are benign and pleomorphic adenoma is the commonest among them that involves both major (90%) and minor (10%) salivary glands. The most predominant site of pleomorphic adenoma is palate; however, it may occur in any part of oral cavity like lip, floor of mouth, tongue, tonsil, pharynx, retromolar area and nasal cavity. Mucosa of cheek (4%) is an extremely rare site. A case of 25 years young male is reported here possessing pleomorphic adenoma of buccal minor salivary gland that was presented to us with a mobile swelling over right cheek that found to be pleomorphic adenoma of buccal minor salivary gland after histopathological examination. Surgical excision was done by intra oral approach with adequate margins. Patient had an uneventful postoperative course and discharged same day on oral antibiotics.

ATP1A3 mutations have been recognized in children with different neurological phenotypes. We describe a patient with a diagnosis of ATP1A3 mutation inherited from his mother. The ataxic syndrome occurred at 18 months with cerebellar symptoms and psychomotor regression, after an infectious episode. The same clinical manifestations were found in his mother. This is the first case of a subject under 2-years-old with ataxic syndrome and ATP1A3 mutation inherited from his mother affected by the same cerebellar manifestations.

Introduction: Giant prolactinomas, defined as pituitary PRL-secreting adenomas whose size exceeds 40 mm and with a PRL level of >1000 ng/ml, are very rare. Their treatment and outcome can be unpredictable and challenging for clinicians. Case Report: A 47-year-old male was referred to the Neuroendocrine Department due to a large pituitary tumor invading the suprasellar region, both cavernous and sphenoidal sinuses, and pharyngeal space. He had been suffering from intensive headaches and visual deterioration for two years; he had also experienced sexual dysfunction. Discussion: We detected extremely high serum PRL levels (˃700000 mU/l) and hypopituitarism. Bromocriptine therapy (BRC) was started with a gradual dose increase. Ten days after the commencement of medical treatment, cerebrospinal fluid (CSF) rhinorrhea appeared. He underwent neurosurgery two months later; the bone erosion was localized and repaired. Tumor biopsy revealed a PRL-secreting tumor with a low proliferative index (Ki67<0.5). After surgery, he continued with BRC and shortly after experienced behavior changes, such as mood oscillations, anxiety, impulsivity, irritability, impaired concentration, and tremor. To control his tumor, pramipexol and levodopa treatment were introduced but with a moderate effect. However, only after the reduction of the BRC dose, his mental and neurological complaints abated significantly. A close follow-up for the next three years detected a low prolactin level and significant tumor shrinkage (MRI), with visual field improvement and reversion of pituitary function. Conclusion: Giant prolactinomas are invasive but respond well to dopamine agonists. However, CSF rhinorrhea, behavioral and neurological changes can occur during medical treatment, suggesting a need for vigilance throughout the dopamine agonist therapy.

Hepatic sinuses obstruction syndrome (HSOS) also known as hepatic venule syndrome, refers to the injury of central lobe and sub-lobular vein of hepatic lobule, resulting in intrahepatic posterior sinus portal hypertension caused by lumen stenosis or occlusion. Currently the pathogenesis is not clear. It may be related to the drug, immunity and inflammation of the liver vein endothelial cells. The clinical manifestations are hepatomegaly, right upper abdominal pain, jaundice and ascites, with a high risk of mortality and poor prognosis for characteristics. Occurs because of cytoreductive therapy prior to hematopoietic stem cell transplantation (HSCT), adjuvant or neoadjuvant chemotherapy containing oxaliplatin for colorectal carcinoma metastatic to the liver and treated by partial hepatectomy, taking herbal remedies containing pyrrolizidine alkaloid and the autosomal recessive condition of veno-occlusive disease with immunodeficiency (VODI). In this paper, the clinical characteristics of HSOS caused by sedum uizoon were analyzed in detail, which provided clinical data for the diagnosis and treatment and the mechanism of the disease in the future.

Objective: A tight skull base reconstruction is important for patients undergoing endonasal endoscopic surgery. We report here details of our skull base reconstruction procedure using a multilayer method for intraoperative cerebrospinal fluid (CSF) leakage occurring during endonasal endoscopic surgery for tumor removal. Methods: To achieve a successful tight repair in cases with high-flow CSF leakage, we have adopted a multilayer method using inlay and onlay fascia, fat from abdomen, and rigid hard bone from nasal septal bone to stop CSF pulsation, as well as a nasoseptal flap to cover the skull base defect. Furthermore, a sinus balloon is inserted into the sphenoid sinus for a few days to secure the above listed materials keep them from falling. Results: Of the 144 patients who underwent endonasal endoscopic surgery performed from November 2008 to March 2015 at our institution, 48 had CSF leakage. The mean age of those patients was 54.9 years old and 41 had a pituitary adenoma, 5 at Rathke’s cleft cyst, 1 a chordoma, and 1 a malignant lymphoma. The mean tumor size was 29.1 mm. Esposito grade 1, 2, and 3 CSF leakage was seen in 18, 16, and 14 cases, respectively. Grade 3 cases had significantly larger tumors as compared to grade 1. There were no differences among the groups regarding the amount of gross total removal. Utilizing a multilayer method in 14 cases with high-flow CSF leakage during the operation, we were able to achieve a tight skull base reconstruction in all cases with no late CSF leakage. Conclusion: Skull base reconstruction with a multilayer method was effective to achieve a tight repair and stop intraoperative high-flow CSF leakage.

The present case starts as an acute renal failure related to severe hypercalcemia, hypophosphatemia, increased FGF-23 and decreased TRP. All the previous are associated with increased bone exchange rate, low PTH, undetectable levels of PTH-RP, 1-25 OH Vitamin D3 in upper level of normal range and bone densitometry compatible with osteoporosis in trabecular bone. These results seem compatible with an increase in bone resorption, urinary loss of calcium and phosphate, and none induced by PTH. Complementary studies suggest the spleen is the organ directly related with this case. In conclusion, a B Cell Lymphoma was diagnosed. It explained the causes of the hypercalcemia, either by the effect of a lymphotoxin, TNF or interleukin 1. After total remission of the lymphoma, the hypophosphatemia persisted, as did the Hight levels of FGF-23, low levels of TPR and a pathological bone densitometry. This lead us to believe in the presence of a phosphatizing producer tumor located in the spleen. Once the splenectomy was done, the analytical findings returned to normal and the histologic evidence confirmed the initial clinical prediction.