Journal des rapports de cas cliniques

Acute compartment syndrome (ACS) most often develops soon after significant trauma, particularly involving long bone fractures. However, ACS may also occur following minor trauma or from non-traumatic causes. ACS is a surgical emergency. We report an unusual case of acute compartment syndrome leading to bilateral foot drop in association with hypothyroidism.

Purpose: Small cell carcinoma (SMCC) of the cervix is rare and aggressive tumor, often diagnosed in an advanced stage and their prognosis is generally poor. A case of SMCC showing Human Papillomavirus (HPV) and Epstein barr virus (EBV) infection and Death-associated protein kinase (DAPK) and p16 genes methylation is presented. A 74-year-old woman was diagnosed as having stage IB2 of SMCC. Methods: HPV and EBV infection and DAPK and p16 gene methylation were found using molecular approaches. Results: The sample was positive for HPV and EBV infection and showed DAPK and p16 promoter regions methylated Conclusion: Methylation of DAPK and p16 gene could be used as a molecular marker in cervical cancer.

Adrenocortical tumor is a rare malignancy (1-2/million ) in children with a heterogenous presentation and generally poor prognosis. We report two cases of adrenocortical carcinoma who presented primarily with virilization along with cushingoid features and hypertension. Both the Children were managed with surgical resection of tumor, steroid replacement and antihypertensives.

Ms. Sk was young lady of 25 year a university student contacted to the therapist through Facebook and got appointment. She was in the company with her close friend when visited the clinic first time and was nervous and perplexed at this occasion, even did not confide therapist for a private sitting. She complained sleeplessness, aggression and strong feelings of dirtiness most of time and feared that CIA would arrest her. On noticing someone staring her she always got startled, and informed in the presence of her friend that she has been under treatment from different psychiatrists for last seven years. She was regularly taking the Cipralex and Lexotanil (anti-depressant). During the treatment as cited above she had been visiting different female clinical psychologists. She was treated by the methods of cognitive behavior therapy (CBT) and counseling but all in vain.

Anaplastic large cell lymphoma (ALCL) is an uncommon form of non-Hodgkin lymphoma in younger patients, accounting for less than 15% of cases. It is exceedingly rare in infants, with a median age at diagnosis of 12 years. Various treatment strategies have been studied in pediatric ALCL, however the long-term event free survival is approximately 70% regardless of treatment approach. We present the case of six month old infant with anaplastic lymphoma kinase (ALK) positive ALCL with unfavourable prognostic features. We elected to treat with upfront brentuximab in addition to combination chemotherapy. This achieved a clinical and molelcular remission of the disease. The treament was well tolerated.

Elevated cardiac troponin (cTn) signals myocardial necrosis and injury but does not specify the mechanism of that injury. The measurement of cardiac troponins is widely used to diagnose myocardial infarction and has become an important tool for the risk stratification and clinical management of patients with acute coronary syndrome

There is always an argument about the value of case report. In every scientific meeting you will meet someone who consider publishing a case report of no benefit. I published many case reports, and in May 2016 the third expert meeting on medical case reports will be held in New Orleans, USA. Such gathering can give an impression of the unlimited value of case reports.

Abruptio placentae is defined as the premature separation of the placenta from the uterus. A significant cause of third-trimester bleeding associated with fetal and maternal morbidity and mortality, placental abruption must be considered whenever bleeding is encountered in the second half of pregnancy. If the bleeding continues, fetal and maternal distress may develop. Fetal and maternal death may occur if appropriate interventions are not undertaken. The severity of fetal distress correlates with the degree of placental separation. In near-complete or complete abruption, fetal death is inevitable unless an immediate cesarian delivery is performed.

Purpose: Eventration is a rare complication after laparotomy and its treatment is actually not standardized. We retrospectively analyzed 12 patients with early postoperative eventration; 8 of 12 were treated with use of biological mesh (non-cross-linked porcine derma). Materials and Methods: We observed, from January 2009 to January 2014, 12 patients with eventration. In 4/12 patients we performed a direct abdominal wall closure and these patients were excluded from the study; remaining 8 patients encountered inclusion criteria and were enrolled on study. Study population was composed by 8 patients (6 male, 2 female). Mean age was 53 years (range 35-70). Direct abdominal wall closure was not performed because of the risk of “abdominal compartment syndrome” (ACS). In six of eight patients early post-operative eventration occurred after urgent surgery Surgical technique: in 4 patients we performed direct wall closure with biological prosthesis (porcine derma) (one-step procedure). In 2 patients wall closure with similar technique was delayed after 9 and 12 days of intra-abdominal VAC (vacuum assisted closure) Therapy (two-step procedure). In 2 cases, because of large skin defect, we applied biological prosthesis and a surface VAC Therapy system on the prosthesis after intra-abdominal VAC Therapy (three-step procedure). Results: We observed immediate complications in four cases (seroma). No patients underwent re-eventration. One year after surgery one patient manifested laparocele. Conclusions: In our opinion, in these cases biological prosthesis can be used as valid device. However, our study is limited by number of patients and other studies are needed to draw definitive conclusions.

Biological disease modifying anti-rheumatic drugs (bDMARDs) have improved outcome of rheumatoid arthritis (RA). Tocilizumab (TCZ) is a monoclonal humanized anti-interleukin-6 receptor (IL6-R) which is indicated in case of inadequate response to one or more DMARDs or other biological treatment. Vasculitis has been reported with anti- TNF (Tumor Necrosis Factor) agents among more than 140 cases according to the BIOGEAS study group ( a Study Group on Autoimmune Diseases of the Spanish Society of Internal Medicine) but only in two cases with TCZ. We report the first case of cutaneous vasculitis occurring under both anti-TNF therapy and TCZ.

Seizures are the second presentation of cerebral vascular malformations, while the first cause is bleeding. However, there are few publications about it, so we describe a case in which the photosensitive epilepsy is the first clinical manifestation of an occipital arteriovenous malformation, for scientific interest and clinical knowledge about it. Our patient was diagnosed by magnetic resonance imaging and arteriography, and he was treated with embolizations with good outcome.

Mutations in the lamin protein(found in the nuclear envelope) known to cause different allelic disorders including limb girdle muscular dystrophies (LGMD) and Emery-Dreifuss muscular dystrophy (EDMD). LGMDs are a heterogeneous group of disorders with progressive proximal muscle weakness in an autosomal inheritance pattern. LGMD type 1B is a disorder secondary to a mutation in the gene encoding Lamin A/C protein in the nuclear envelope. We report a heterozygous mutation (c.148C>T mutation) in the lamin A/C gene causing LGMD type 1B in a family. This mutation was previously reported to cause EDMD. Repeated muscle biopsies and using ever advancing molecular genetics assisted in establishing the diagnosis. Our case demonstrates the need for pursing investigations as cardiac involvement and sudden death is common in this group.

The sudden onset of a severe disease usually causes great impact not on the person's life in various aspects: biological, social and psychological. When this situation strikes a young and healthy patient the impact is even greater, having, both the family and individual, to develop unique coping mechanisms to deal with the situation.

Heterotopic pregnancy is a rare event (I in 10,000-50,000) and the risk increased with assisted reproductive technology procedures (70 fold increased risk). Heterotopic cervical pregnancy is even more unusual. We present a rare case of heterotopic cervical pregnancy that was managed successfully with preserving the IUP. Up to the present, a total 37 cases of heterotopic cervical pregnancy have been reported in the English language literature. The lady conceived by IVF-ICSI was diagnosed with heterotopic cervical pregnancy In her 1st pregnancy U/S 2 days later She visited the emergency room with vaginal bleeding at 5 weeks +6 days gestational age, transvaginal U/S confirmed the diagnosis of heterotopic cervical pregnancy with both viable fetuses. Lady is hemodynamically stable with mild vaginal bleeding.

Intravascular large B-cell lymphoma (IVBCL) represents a rare subtype of extranodal diffuse large B-cell lymphoma characterized by selective growth of neoplastic cells within the lumen of small and medium-sized vessels. The clinical spectrum is heterogeneous dominated by neurological and skin manifestations. Intra-vitam diagnosis still remains challenging and usually requires brain biopsy since no pathognomonic neuroradiological findings do exist for IVBCL. We report on the case of a 65-year old male patient presenting with multifocal neurological signs and symptoms including cognitive deficits, aphasia and paraparesis as leading features. Imaging findings were suggestive for cerebral vasculitis prompting initiation of steroid treatment. After initial stabilization the patient deteriorated in spite of systemic steroid treatment, developed severe sepsis and finally died from multi-organ failure. Histopathological findings revealed CD20 positive lymphoma cells in small- and middle-sized vessels of the cerebrum, the lungs and the skin diagnostic for IVBCL. This case should raise the alertness for consideration of IVBCL as a differential diagnosis resulting in early brain biopsy, if no etiology for CNS vasculitis is evident.

Background: For cases where clinical and cytological data from cold thyroid nodules are ambiguous; presurgical proteomic profiling of fine-needle aspirate biopsies of cold thyroid nodules in situ can provide additional diagnostics to avoid invasive surgical intervention and thyroidectomy of benign or non-cancerous tissue. Methods: The fine-needle aspirate biopsy lysate was digested with trypsin, and analysed by liquid chromatography mass spectrometry on a linear trap quadrupole Orbitrap Velos. Remaining peptides were separated by reversedphase chromatography and fractions analysed as technical duplicates. Identified proteins were analysed by Gene Ontology and protein abundance were calculated using the Top3 label-free method. The proteomic data was complemented with ultrasonography and scintigraphy of the thyroid gland; and cytology of the cold thyroid nodule fine-needle aspirate biopsy. Results: Sixty seven and 2,595 non-redundant protein groups (≥2 unique peptides) were identified from unfractionated and fractionated cold thyroid nodule fine-needle aspirate biopsy, respectively. Label-free protein abundance ranged over 6 orders of magnitude from the most abundant proteins, haemoglobin and thyroglobulin; to the low-abundance protein SON. Many previously-reported markers of thyroid cancer were in the top 23% of the identified proteins. Gene Ontology analysis revealed high-enrichment for cytoplasmic and membrane-bound organelle (cellular component); single-organism and small molecular processes (biological processes); and poly(A) ribonucleic acid, ribonucleic acid and protein-binding (molecular function). Conclusions: The cold thyroid nodule was clinically-classified as benign. Proteomic data from fine-needle aspirate biopsies can provide additional diagnostic candidates indicative of a benign or cancerous cold thyroid nodule without the need for invasive surgical intervention.

A 38 year old male with a history of anxiety, headaches, and diarrhea was referred to the hypertension clinic for evaluation. Clinical work-up revealed a right adrenal mass that was subsequently shown to be a pheochromocytoma and he underwent a total right adrenalectomy, with symptom resolution. The patient was referred to Medical Genetics for an evaluation and genotyping indicated von-Hippel Lindau (‘vHL’) V84L mutation. Four years later, the patient presented with a recurrent complaint of diarrhea. Diagnostic imaging showed a left ureteral tumor, though this was inconsistent with the gene mutation previously identified. A careful examination of the pathologic specimen disclosed the histologic presence of adrenal cortex at the tumor edge during evaluation. The patient had an adrenal “rest” on the left ureter, thus, he remained true to the clinical behavior of the V84L mutation in that pheochromocytoma was limited to the adrenal gland. Genetic testing is strongly recommended for those patients with cancer genetic riskfactors.

Introduction: Metastasis of ovarian serous carcinoma to breast and/or axillary lymph nodes represents an unusual event. Nevertheless, their detection and distinction from mammary carcinoma are of huge clinical importance because the treatment and prognosis diverge significantly. Case presentation: We report a case of a 47 year-old Caucasian female patient with unforeseen metastasis to the breast and to axillary lymph nodes due to ovarian serous carcinoma. Conclusion: In patients with history of OSC who present with axillary or breast mass, an accurate histological diagnosis should be obtained since this has a great impact on treatment outcomes.

A 78-year-old woman with severe aortic stenosis underwent transcatheter aortic valve implantation (TAVI) with a balloon expandable bioprosthesis: a 23-mm Sapien XT valve (Edwards Life Sciences, Inc., CA, USA). A set of the valve and a balloon (NovaFlex, Edwards Transfemoral Balloon Catheter, Edwards Life Sciences, Inc., CA, USA) was successfully delivered to an optimal position using a 16-French expandable introducer hydrophilic sheath. Inflation of the balloon was commenced, and expansion was initially smooth. However, it ruptured immediately before completion of expansion, resulting in a rapid deterioration in hemodynamics. Even though no migration of the stent valve was observed, transesophageal echocardiography and aortography revealed massive paravalvular aortic regurgitation (AR), suggesting that AR was attributable to insufficient expansion. After post -dilatation of the stent valve using a 23- mm balloon (Edwards Transfemoral Balloon Catheter, Edwards Life Sciences, Inc., CA, USA), the patient’s condition began to improve, and further aortography indicated an improvement in paravalvular AR. This case represented that balloon rupture could led to sudden onset massive paravalvular AR. Interventional cardiologists should recognize it as a significant complication in patients undergoing TAVI using a balloon-expandable bioprosthesis, with the possibility of severe cardiogenic shock.

Introduction: Hypertrophic olivary degeneration (HOD) is a rarely neurologic disease, occurring after damage to the dentato-rubro-olivary pathway. Case presentation: A 50-year-old hypertensive man suffered pontine hemorrhage resulting in numerous neurological deficits. Neurologic examination 4 months after the hemorrhage showed mild to moderate improvement. 8 months after the hemorrhage, the patient developed truncal and limb tremors, unsteady gait and dysarthria. Magnetic resonance showed increasing bilateral hypertrophic olivary degeneration. Administration of clonazepam and levodopa were ineffective for symptom relief. Conclusion: This case was presented in order to describe the clinical manifestations of HOD and to recognize the possibility of hypertrophic olivary degeneration after the pontomesencephalic stroke.

Objective: To demonstrate how a single intra detrusor botulinum toxin injection could be responsible for lower limbs proximal motor deficit. Results: Two women-37 and 38 years old-presenting with secondary progressive multiple sclerosis, having received intra detrusor botulinum toxin injections (400 BOTOX® U and 750 DYSPORT® U) due to major neurogenic detrusor over activity with high-pressure and risks of uro-nephrologic complications despite an efficient-dose anticholinergic bi-therapy (DITROPAN®/CERIS®). Few days in post-injection they present heavy tiredness, instability of the pelvis, and a major reduction of the walking distance. Those symptoms last for several months. During the emergency neurology consultation set up in the event of a new relapse, an aggravation of the paraparesis at the proximal level is observed. This deficit accounts for the realization of a corticosteroids bolus, the effectiveness of which is questioned by the patient. A cerebral and medullary MRI is performed in order to certify the appearance of new lesions. The MRI doesn’t objectify any new lesions or any pathological contrast enhancement. Discussion: Ramirez-Castaneda et al. describe three means of dissemination of the BoNT: migration by systemic or neuronal transport, propagation/spread and diffusion. Conclusion: The retrograde migration of the botulinum toxin via hypo-gastric nerves seems to prevail. It could be followed by axonal anterograde transport causing a deficit on the hip flexors via the L2 nerve root.

Objective: Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disease. Although only a minority
of NF1 patients develops malignancy as a complication of the disorder, cancer (mainly represented by tumors
involving the nervous system) remains an important cause of morbidity and mortality. A case of the rare association
between adenocarcinoma of the Vater ampulla and NF-1 is here reported. The patient accepted Whipple operation.
Histologic analysis of the whole surgical specimen revealed an adenocarcinoma limited to the ampulla of Vater,
without lymphonodal involvement.
Methods: A study of the possible presence of genetic alterations, which could demonstrate a molecular correlation
between NF-1 and periampullary epithelial neoplasms, was performed using the intragenic NF1 microsatellites.
Results: Adenocarcinoma sample retained heterozygosity for the informative microsatellites; furthermore,
microsatellite analysis was unable to detect any LOH involving the NF1 gene.
Conclusion: Our results suggest that Ampulla’s adenocarcinomas are an occasional event in NF1, accordingly
to the epithelial but not neuroectodermical origin of this tumour.

Here we describe the case of a young woman with a late diagnosis of vertebral artery dissection and midbrain ischemic lesion after minor post traumatic injury. Doppler ultrasonography was used as the first diagnostic examination to evaluate the dissection. We present this unusual but not rare case related to the frequent events of cervical distraction after car accident in order to better understand the clinical approach the sensitivity Doppler ultrasonography in post-traumatic cervical distorsion.

Mediastinal germ cell tumors are rare malignant tumors whose current management strategy involves making a prompt diagnosis and providing an appropriate chemotherapy. However, there is as yet no consensus regarding the optimal management postchemotherapy. We encountered the case of a 23-year-old man who was diagnosed as having a mediastinal nonseminomatous germ cell tumor. We evaluated its response to induction chemotherapy by fluorodeoxyglucose-positron emission tomography/computed tomography. We performed complete surgical excision of the residual tumor postchemotherapy. Histopathologic examination of the surgical specimen showed no viable tumor cells.

Introduction: Laryngeal chondrosarcoma is a rare tumor. It mainly develops in cricoid cartilage, surgery is the treatment of choice. His prognosis is good. Case Report: A 55 year old man, non-smoking, was diagnosed with grade 2 laryngeal chondrosarcoma. Surgical treatment consisted of a total laryngectomy with bilateral neck dissection. Radiation therapy on the tumor bed was performed at a dose of 66 Gy in 33 fractions of 2 Gy once daily for 7 weeks. The follow-up of this patient is 12 months and his ECOG is 0. Discussion: Laryngeal chondrosarcoma is a rare tumor, It mainly develops in cricoid cartilage. It produces dyspnea, dysphagia, odynophagia, hoarseness, and airway obstruction. CT scan is the method of choice for studying the larynx. Endoscopy enables biopsy, which should be profound as the tumor develops at the submucosal. Histopathological examination showed immature chondrocytes with variable cytonuclear abnormalities. There are three grades of severity: Grade 1, 2, 3 of laryngeal chondrosarcomas. Surgery is the treatment of choice. Chondrosarcoma is considered poorly sensitive to radiation therapy. Chemotherapy has no role in this indication. Prognosis depends upon histologic grade and quality of exeresis. Conclusion: Laryngeal chondrosarcoma is a rare tumor, with slow growth and insidious clinical picture; Surgery is the treatment of choice, prognosis is generally good, and basically dependent on histologic grade.