Journal des rapports de cas cliniques

Introduction: Primitive Neuro-Ectodermal Tumors (PNETs) belong to the group of malignant bone tumors. Their frequency is about 1% of sarcoma. The principal distinctive feature in a translocation concerning the EWS gene or t(11; 22)(q24; q12). They are even rarer when located in the extra-skeletal pelvic region. Case report: We report a case of a 37 year old female patient with a PNET in the pelvic region that is found after a spontaneous abortion. The tumor is localized on the right latero-uterine ligament. The tumoral size is of 10 cm. After the coelioscopic diagnosis, the patient was treated with neo-adjuvant chemotherapy according to VIDE protocol and ensuring an important diminishing of the size of the tumor. She then had a total radical hysterectomy associated with a lymph node resection. The diagnosis was confirmed by histology, immunohistology examinations and molecular biology by hybridation in situ. The tumoral cells were classically small and round. They expressed CD99 and vimentine. Translocation t(11;12)(q24;q12) was positive. Two months later, the patient presented a tumoral relapse and received an adjuvant chemotherapy by VAI twice with a limited chemical and hematological tolerance that brought along palliative treatment. Discussion: Extra skeletal PNETs found in the pelvic region are very rare. Our present case is also rare by the way in which it was found, by the age of the patient and its being in the pelvic region. Prognosis with these tumors is still very bad regardless of the optimization of a multidisciplinary answer. Conclusion: The research of new biomarkers and target therapy could be a hope for the treatment of these rare and pejorative tumors.

Objective: Childhood stroke is common than expected due to increased availability of imaging studies. We aim to evaluate clinical and radiologic findings of stroke. Method: In this study 23 children (15 boys, 8 girls) aged 3 months to 17 years were included. Clinical findings and etiologic causes of the patients with radiologic confirmed stroke and treatment options are considered. Result: Clinical signs of our patients include hemiparesis, seizure, speech disturbance, headache, facial nerve palsy, confusion, cerebellar signs, syncope, visual field defect, headache. Most frequent presenting symptoms are hemiparesis and seizure. Conclusion: In our study most frequent risk factors are prothrombic states, infection, vasculopathy, cardiac disease, trauma, vascular malformation respectively.

Pelvic Inflammatory Disease (PID) refers to an infection of upper female genital tract, including uterus, fallopian tubes and ovaries, which might involve adjacent pelvic structures. It is generally caused by a sexually transmitted infection. It occurs due to migration of an infection up to the genital tract during a transcervical intervention or pregnancy. The prevalence of PID has decreased in USA in the last decade. Almost 106,000 patients presenting to hospitals in USA in a year are diagnosed with PID, and 60,000 of them require hospitalization. The primary risk factor for PID is sexual intercourse. The risk of developing PID is non-existent in virgin women. On the other hand, women having one sexual partner rarely develop PID in the long term. Having multiple sexual partners is the biggest risk factor for developing PID. Young age, history of chlamydia or PID, and having a sexual partner who has a sexually transmitted disease can be listed among the other risk factors. Methods of contraception affect the frequency of PID. Specifically, barrier methods provide protection from PID whereas the use of intrauterine device (IUD) increases the risk.

A 12-year-old girl presented to our EEG Monitoring Center at Xijing Hospital with a history of nocturnal paroxysmal unconsciousness and  about 3-7 times almost every night. 24 hours Videoelectroencephalogram (V-EEG) was performed to the girl in our center. Interictal spikes were detected in electrodes right frontopolar and inferior frontal region during awake period.

The clinical awareness of Caesarean scar defect (CSD) as a cause of abnormal uterine bleeding and adverse obstetrical outcome is still lacking among gynaecologists and their patients. Patients with CSD are mostly asymptomatic, though the lesion may be associated with symptoms like abnormal uterine bleeding, pelvic pain, infertility, and adverse pregnancy outcome. This paper is to report two patients with incidental findings of CSD on ultrasound scanning and MRI and to discuss on their presentations, investigations, and dilemma on treatment options of this condition.

Coronary artery aneurysms are rare with a prevalence estimated between 0.3-5% among people undergoing angiography. Giant coronary artery aneurysms (CAA) defined as having a diameter of 2 cm or greater are rare with a reported prevalence of 0.02%. Combination of giant coronary aneurysm with multiple fusiform aneurysms in the remaining coronary arteries is even rarer. Giant CAAs are prevalent in adult male and predominant in right coronary artery; the etiology is atherosclerotic or associated with Kawasaki disease, Takayasu arteritis, collagen vascular disease, IgG4-related coronary periarteritis or secondary to drug-eluating stent implantation. Complications could be thrombosis of the aneurismal sac with secondary acute coronary syndrome or rupture of the sac with fatal consequences, but patients can be completely asymptomatic. We describe an interesting case of a 58 year-old man who had multiple atherosclerotic CAA, one of which was a giant CAA of the right coronary artery presenting to us claiming abdominal pain without any kind of cardiac symptoms.

Introduction: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, accounting for 1-3% of all gastrointestinal malignancies. The most common site of origin within the gastrointestinal tract is the stomach, followed by the small bowel. The clinical presentations of GISTs are highly variable according to the site of origin and the and size, but none of them is pathognomonic. GISTs are indeed often diagnosed incidentally during investigations performed for other reasons. The preoperative radiological diagnosis of GISTs is complicated by their varied macroscopic morphology. Moreover, the precision of preoperative histopathological diagnostics is reduced by the submucosal localization of the lesion. Surgical resections is the ‘gold standard’ therapeutic choice of primary GISTs. Recently, a targeted therapy with inhibitors of tyrosine kinase receptors (imatinib) has been introduced for the management of advanced and metastatic tumors. Aim of the study: The present study was designed in order to assess the survival of GIST-diagnosed patients after surgical resection, to identify factors that could have a prognostic impact and finally evaluate the role of Imatinibmesylate as therapeutic option in this group of individuals. Materials and methods: We retrospectively collected 88 consecutive patients who were diagnosed with GIST and surgically resected in our center (Department of General Surgery, ‘San Matteo’ Hospital, Pavia) in the last 15 years (January 2000-December 2014). General and clinical data were reviewed from patients’ medical reports: symptoms at presentation, clinical course, histopathological features, type of surgery, post-surgical complications and disease-free survival. Results: 45 (51.13%) out of 88 patients were male, 43 (48.86%) were female. The median age of our study population was 55 years. Most tumors originated in the stomach (63.63%, 56), 22.72% (20) were isolated from the small intestine, duodenum (3.4%, 3), colon (3.4%, 3), esophagus (2.27%, 2) or elsewhere (4.54%, 4) with an average diameter of 9.1 cm (range 0.5-19 cm). Tumor size was less than 2.0 cm in 22.72% (20) of patients, between 2.0 and 5.0 cm in 38.63% (34) of patients, between 5.0 and 10.0 cm in 25% (22) of patients, and greater than 10.0 cm in 13.63% (12). Twenty-one patients presented with gastrointestinal bleeding (23.86%), 17 patients with intestinal obstruction (19.3%), 8 with intraperitoneal haemorrhage (9.09%) and 4 with perforation and peritonitis (4.5%). Thirtyeight patients were asymptomatic (43.01%) and diagnosed incidentally during investigations performed for other reasons. Complete macroscopic resection (Wedge+Partial organ resection) was performed in 74 patients (84.1%), total organ resection and peritoneal biopsy were chosen for 9 patients (10.22%), while 5 patients (5.685) received “en-bloc” resection. Fourty-six (52.27%) out of 88 patients underwent postoperative (adjuvant) treatment with Imatinib and only one isolated case received a combination of Imatinib and Sunitinib. 23 (26.14%) patients did not need any adjuvant therapy but only a close follow up with Computed Tomography (CT) and blood tests monitoring every 3/6 months. We were not able to collect data from 18 (20.45%) patients who did not presented at the follow-up visits. Conclusion: GISTs constitute an interesting chapter of oncological pathologies. Surgery is still the gold standard treatment in localized primary GIST. Still a little number of cases with low risk disease can be treated with radical surgery. The prognosis is strictly related to the size and completeness of the surgical resection. Large size, high mitotic rate, high risk group, and adjacent organ involvement all contribute to bad outcome of GISTs. Imatinib therapy significantly improves survival of patients with intermediate-high risk or advanced staging.

Ecchymoma in a patient with unclear liver cirrhosis was rare. Herein we reported such a case of a 67-year-old female with cirrhosis and with a huge ecchymoma developed due to a slightly cough. She felt tired with strong left abdominal pain after a slightly cough that happened 3 days before. After a detailed diagnosis, she was believed to be a case of ecchymoma caused by liver cirrhosis. And a conservative therapy strategies that introducing blood plasma into body and enhancing hemostasia to protect hepatocytes had been considered. Although ecchymoma with cirrhosis was rare, an appropriate treatment plan should be discussed on a case-by-case basis to improve the prognosis.

A 38-year-old woman was referred to an Endocrinologist with sudden onset of a variety of clinical symptomsepileptic seizures, amenorrhea, weight gain, hirsutism and sexual dysfunction. Her physical examination and biochemical investigations, including blood sugar were normal. Blood pressure was 110/80 mmHg. A right adrenal tumor was detected on ultrasonography and computed tomography. Blood levels of dehydroepiandrosteronesulphate, testosterone and aldosterone were increased 2.2, 7.6 and 1.6 times higher than maximal normal values respectively. The aldosterone/renin ratio was 176. The laparoscopic excised tumors of the right adrenal gland weighed 137 g and was red-yellowish-brown with the intact capsule. Histology of the tumor showed round, oval or polygonal cells with abundant granular eosinophilic cytoplasm. Nuclei were oval, basophilic and with nucleoli. Focally pleomorphic nuclei were noticed. The cells formed nests and trabeculae. Histological picture was suggestive for oncocytoma. Immunohistochemical investigations showed: alpha-inhibin-diffusely positive in tumor cells, synaptophysin-positive in zones of tumor cells, melan A-diffusely positive in tumor cells, Ki-67-positive in 10% of tumor cells, Chromograninnegative in tumor cells but positive in medullary zone. After the surgery, almost all the hormones returned to normal and were maintained at this level for 12 months post operation. An exception was aldosterone, which was increased, but without symptoms of hyperaldosteronism. The patient did not report any seizures after the surgical treatment. Sexual function regained 6-12 months post-surgery.

Congenital chylothorax is the most common cause of pleural effusion in the neonatal period. We describe a 9 days old new born admitted for respiratory distress. The chest X-rays showed a white right lung with a left mediastinal shift. A pleural aspiration assessed the diagnosis of chylothorax. Lympho-scintigraphy detected rapid drainage of lymph into the right side of the chest. A conservative treatment was initiated with pleural aspirations and total parenteral nutrition followed by enteral feeding using semi elemental formula. This treatment was effective and the child was discharged from the hospital at the age of 40 days. A 6 years follow-up, revealed no recurrence of the chylothorax.

We now report a case of bilateral tension pneumothorax that occurred after acupuncture and cupping. A 56-year-old woman suddenly developed the symptoms of chest tightness, heart palpitations, shortness of breath and unconsciousness, the percutaneous oxygen saturation was 76%. Endotracheal intubation and chest Computed Tomography (CT) scan were administered in sequence. She was diagnosed with tension pneumothorax which was based on the symptoms and signs that appeared 7 h after the acupuncture and the CT scanning findings. We propose that patients receiving acupuncture around the chest wall must be adequately informed of the risk and related symptoms of pneumothorax.

There are multiple causes of syncope, which is a short loss of consciousness and muscle strength, characterized by a fast onset, short duration, and spontaneous recovery. The exactly cause of syncope in young adult is usually difficulty to figure out. This case report describes syncope in a young adult with multiple intermittent high C-peptide levels upon testing.

Background: Common Variable Immunodeficiency (CVID) is a clinically heterogeneous antibody deficiency syndrome. The usual presentation is with recurrent respiratory infections. There is a strong association between CVID and autoimmune disorders. However, for CVID to present initially and solely with Autoimmune Encephalitis (AIE) is extremely rare. Case report: A previously healthy three years old boy presented with acute encephalopathy and intractable seizures. His clinical features and radiological findings were highly suggestive of AIE. His evaluation has revealed findings consistent with diagnostic criteria of CVID. Recurrent infections have later on evolved during his prolonged illness. Discussion: Both CVID and AIE pose a diagnostic difficulty. The prevalence of autoimmune disorders in CVID patients’ cohort can be up to 50%. However, central nervous system involvement in those patients is rare. The authors are not aware of this presentation being reported in children. Conclusion: In young children presenting with unexplained autoimmune encephalitis, investigations of immune system my reveal CVID, and timely and appropriate management would could be initiated.

Cardiac tumors are divided into primary and secondary tumors. Primary cardiac tumors are very rare, with an autopsy incidence of 0.001% to 0.03%. Most (>80%) primary cardiac tumors are benign, and myxoma is by far the most common. Myxoma constitutes about 50% of all benign cardiac tumors in adults. Most myxomas (>80%) are found in the left atrium. We report a rare case of a massive left atrial myxoma causing mitral valve obstruction and presenting as positional dizziness. Though cardiac myxomas are known to present with various non-specific clinical symptoms, orthostatic hypotension is not listed as a presenting symptom of atrial tumors in most textbooks of internal medicine or cardiology. So this case is rare in this sense.

Objective: A 50-year-old immunocompetent patient was hospitalized following an episode of acute necrotizing pancreatitis. Piperacillin/tazobactam was administered empirically. Despite continuous IV , on the 20th day of treatment the patient required urgent laparotomy. A swab sample was collected and subsequent Vancomycin with Amikacin administered empirically. Design: Despite administration of intensive treatment, general clinical condition of the patient deteriorated. The question was, why we experienced ineffectiveness of conservative treatment, as well as of subsequent surgical procedures? Was the microbiological specimen taken incorrectly? Why was it difficult to identify bacteria constituting the etiological infection source? Results: What is emphasized in our article is the significance of proper collection of a specimen and gathering an appropriate clinical history. What also needs to be taken into account in severe acute pancreatitis is perhaps allowing for longer bacterial culture growth. Conclusion: In this case, the infection was caused by a past injury with the previously undiagnosed etiological factor, i.e. Nocardia spp., challenging both current diagnosis and treatment, which ultimately resulted in severe necrotizing pancreatitis. This indicates the importance of a microbiologist for diagnosis and treatment.

Chondromyxoid fibroma is an extremely rare, benign cartilaginous tumor, which might be misdiagnosed as hondrosarcoma. Recent studies reported that PET/CT could distinguish benign cartilaginous tumors from chondrosarcomas with maximum Standardized Uptake Value (SUVmax) of more than 2.0. In the literature, 4 cases of chondromyxoid fibroma have been reported on PET/CT with high accumulation of 18FFDG. However, no paper has explained the reason for this high accumulation. In this paper, we present a case of femoral chondromyxoid fibroma and discuss the rational reason for high accumulation of 18F-FDG by PET/CT in accordance with histology. Here, a 20-year-old female presented with a lesion located in the medial aspect of the left distal femur. Radiography revealed an eccentric radiolucency in the metaphysis of the left distal femur. CT images clearly demonstrated a cortical destruction of the posterior wall. PET/CT images clearly demonstrated an abnormal 18F-FDG uptake of the distal aspect of the left femur with SUVmax value of 6.6, indicating a chondrosarcoma. In the present case, histology showed a number of multinucleated giant cells at the periphery of the lobules in the tumor, which can explain the high accumulation.

Background: Achondroplasia is a skeletal dysplasia, being the most common cause of rhizomelic dwarfism. Case presentation: We present a ten year old boy who was first diagnosed prenatally. He had a mutation C1138G>A in the gene FGFR3 in a heterozygotic constellation. His IgF1 levels and IgFBP3 were normal. Two stimulation tests for growth hormone were performed with normal levels of the hormone. His psychomotor development was adequate for his age except for speech difficulty. He started with recombinant hGH (r-hGH) at the age of 3.4 years in a dose of 0.06 mg/kg. His mean Height SDS (HtSDS) was -2.2. The growth increased to 10 cm/ year in the first year of therapy (HtSDS-1.1). It decreased during the second year to 4 cm (HtSDS-1.7) and again increased during the third year to 8 cm/year (HtSDS-1.3). In the next years the growth was constant (6.5, 2.3, 3.5 cm/year). He is still growing in the 3rd percentile of the growth curve (HtSDS-1.2). The body disproportion did not aggravate during treatment. Conclusion: The growth was satisfactory in the first 4 years of treatment, although he still continued to grow. The young age at the start of treatment was also of importance. Our other patients with achondroplasia who started treatment older had a poor response to growth hormone.

Merkel Cell Carcinoma (MCC) is a rare but aggressive skin cancer. Similar to melanoma, infiltration of CD8+ T cells is associated with an improved prognosis, which provides rationale for immunotherapy in MCC. This manuscript reports the first application of ipilimumab in the treatment of a MCC patient. In this case, combination treatment of a stage IV MCC patient with ipilimumab, radiotherapy, and chemotherapy resulted in stable disease. Unfortunately, the patient passed away from an unrelated cardiac event prior to being able to be fully evaluated for the effects of ipilimumab. Immunotherapy represents a promising treatment option for advanced cancers. Ongoing clinical trials should provide information regarding the efficacy of immunotherapy in otherwise often-lethal metastatic MCC.

We describe the case of a 59-year-old woman who underwent a radical left nephrectomy for renal cell cancer in 1993. After 7 years, the disease relapsed as thyroid and pulmonary metastases and she has been initially treated with chemotherapy. At further progression we administered an antiangiogenic drug, Sunitinib for 9 months then we switched to Pazopanib. The patient is still receiving a half-dose of Pazopanib (46 months) and she is showing a longlasting response with an optimal safety profile. In this patient, Pazopanib demonstrated a significant improvement in PFS and tumor response also with half a dose. Nephrectomy, metastasectomy, medical therapy and targeted treatments have been shown able to prolong survival and improve quality of life. This is an example of chronicized disease in a patient who can be defined as a long-term survivor.

Background: Ovarian Hyperstimulation Syndrome (OHSS) is an iatrogenic complication that may occur in hormonally induced ovarian stimulation cycles. Generally, the symptoms are self-limited and resolve spontaneously. Occasionally OHSS can become life-threatening secondary to complications such as venous thromboembolic events, electrolyte imbalance, organ dysfunction and massive third spacing. Pleural effusion, or fluid collection within the pleural cavity surrounding the lungs is one such negative consequence. Our objective was to describe an unusual case requiring the need for continuous drainage of a pleural effusion in a patient suffering from OHSS with minimal ascites. Case presentation: We present a case of a patient undergoing treatment for infertility that presented to the ED with complaints of shortness of breath and abdominal pain. Reoccurence of pleural effusion on the left side prompted one-time thoracentesis. Reoccurrence of her left lung pleural effusion prompted a one-time left thoracocentesis, which was complicated by a pneumothorax. Eventually, the patient did well and went on to have an uncomplicated delivery. Conclusion: Although pleural effusions with the absence of clinically significant ascites secondary to OHSS are not readily diagnosed they carry significant morbidity. In this report, early diagnosis and intervention with the use of a continuous pigtail drain resulted in an excellent patient outcome.

X-Linked Intellectual Disability (XLID) is an extremely heterogeneous disorder for which many of the causative genes are still unknown. So far, more than one hundred genes of the X chromosome have been found to alter in males manifesting intellectual disability. OGT (O-linked N-acetyl-Glucosamine-Transferase) gene is well known to be involved in endocrine alterations by the resistance of insulin in muscles and adipocytes and therefore the initiation of diabetes. It is reported to be involved also in cancer, brain development, and neurodegenerative diseases. However, its implication in chromosome X-Linked Intellectual Disability (XLID) has not been pinpointed up until now. In this study, we consider a family of three brothers having a non-syndromic intellectual disability and developmental delay while developing a genetic diagnosis. In the present study, clinical investigations, and medical exams were performed according to the French bioethics law. We performed X-exome sequencing in two patients. Sanger sequencing was accomplished to confirm novel mutations. X-chromosome inactivation was executed in the mother. Affected boys had a severe intellectual disability and mild dysmorphic features. The heterozygous mother had mild cognitive impairment. Her X-chromosome inactivation pattern was not skewed. We identified a novel missense mutation (c. 1193G>A) in the OGT gene. This mutation was inherited by the affected males, and it segregated with the abnormal phenotype. It was predicted to be damaging by SIFT (score 0). The mother was heterozygous and the only normal son was not mutated. The pathological phenotype of our patients might be linked to the new missense mutation, however, more similar clinical cases and functional studies are required to conclude the correlation between the genotype and the phenotype.

Background: Down-staging strategy of Hepatocellular carcinoma (HCC) prior to Liver Transplantation (LT) is important for preventing drop-out from the waiting list for LT or further enlargement of the adaptation of LT. Hepatic arterial infusion chemotherapy with cisplatin in lipiodol and 5-fluorouracil (HAIC with lipiodol) is a novel and effective treatment for advanced HCC. Here we report a successful down-staging case of HCC by a series of therapeutic strategies using HAIC with lipiodol that provided an effective bridge to LT. Case Report: We report a 48-year-old patient with severe liver cirrhosis, a 7.5 cm primary HCC in segment 8 and a 1.2 cm satellite lesion in segment 4, which was outside both Milan Criteria and University of California, San Francisco (UCSF) Criteria. We offered HAIC with lipiodol therapy using a temporary indwelling catheter system with intent to down-stage prior to LT. Six months after initial treatment, complete tumor remission was achieved. However, the patient developed HCC recurrence within the Milan Criteria on further six months later, and LT was performed. Examination of the explant revealed pathologic complete response of both primary and satellite lesions treated by HAIC with lipiodol showed pathologically complete necrosis. This patient is free from recurrence 5 years after LT. Conclusion: HAIC with lipiodol using a temporary indwelling catheter system may be effective to down-stage HCC prior to LT.

We report three patients with Hirayama disease with bilateral involvement. Case 1 developed weakness and wasting of bilateral hands at the age of 15 years. Case 2 developed unilateral weakness and wasting of the hand at the age of 18 years, and gradually exhibited progression to the other side within 1 year. Case 3 was a female who developed weakness and wasting of one hand at the age of 17 years, and showed dysesthesia and weakness in the other side, with pyramidal tract signs 31 years after the onset of the disease; she was diagnosed with complication of cervical disc hernia. We notice that bilateral involvement represents a severe form of this disease. We also need to differentiate incidental complications when the patients show worsening after a long stationary period.

The high disease rate and high mortality rate, suggest the necessity of the appropriate education to treat Hospital Acquired Pneumonia (HAP) even in neurosurgical field. For rapidly progressed aging society, in Japan, appropriate measures to prevent in-hospital complications including HAP, will be focused much more in the future.