Journal of Clinical Case Reports

No pharmacological treatment has been found to be effective in the treatment of spinocerebellar ataxias. Stem cell based therapy is emerging as a promising therapeutic option for the treatment of Spinocerebellar ataxias. In this case report, three patients with spinocerebellar ataxias were treated with human embryonic stem cells. Following the treatment, all patient showed noticeable changes in their health such improvement in hand eye coordination, gait pattern, ability to stand without support, muscle strength in all the limbs, ability to walk and turn while standing without support, clearance in speech, good energy levels, reduction in twitching of cheek muscle, stamina, endurance and coordination.

Background: Panic disorder during adjuvant chemotherapy for breast cancer occurs rarely and thus there are no studies, nor specific guidelines to treat its troubling symptoms that may lead to treatment discontinuation.
Case report: We describe a patient with breast cancer developing panic disorder during adjuvant chemotherapy treatment putting at risk its completion. We used progressive muscle relaxation (PMR) to effectively control her symptoms and achieved completion of her therapy. To our knowledge, this is the first reported case of a patient with breast cancer developing adjuvant chemotherapyrelated panic disorder. PMR is highlighted through our study as an effective way of handling panic disorder in oncology units.

Tarlov cysts are meningeal dilations of the posterior spinal nerve root. The cysts can grow as a result of an increased inflow of cerebrospinal fluid giving rise to symptoms due to compression or stretching of the adjacent nerve roots. They are usually multiple and asymptomatic, but Tarlov cysts in the sacral neural canal and foramina can be associated with symptoms like radicular pain, low back pain, paresthesia, and urinary or bowel dysfunction. To the best of our knowledge, Tarlov cysts presented with dysmenorrhea has not been reported in the literature. This association, though rare, should not be overlooked, especially when there is enough clinical suspicion while investigating an atypically looking adnexal cyst while managing in the context of dysmenorrhea or pelvic pain. MRI is recommended when the exact diagnosis is in doubt. Laparoscopic excision of the cyst is feasible and in our case it has been shown to be effective and safe.

In the era of advanced imaging triphasic CT is considered the most sensitive and specific investigative modality to qualify renal masses as renal cell carcinoma. Although the sensitivity and specificity for CT are 98 and 99%, respectively but it can still misdiagnose other pathologies as tumor.

Vancomycin is a glycopeptide antibiotic with widespread use since 1958. Vancomycin is clinically indicated for the treatment of methicillin-resistant strains of coagulase negative and coagulase positive staphylococcal infections, gram-positive penicillin-resistant infections and as an alternative treatment for penicillin-allergic patients. Vancomycin induced neutropenia is a rare side effect. We present the case of a 23 year old man with recurrent fevers and persistently positive blood cultures growing viridans group streptococci. He was found to have endocarditis requiring aortic valve replacement. Due to the patient’s allergies he was treated with IV vancomycin therapy. This resulted in the uncommon adverse event of vancomycin induced neutropenia. The patient subsequently responded to granulocyte colony stimulating factor. Vancomycin induced neutropenia is an uncommon but serious adverse reaction with the potential for morbidity and mortality. Further guidelines are needed for leukocyte monitoring during vancomycin therapy and the use of granulocyte colony stimulating factor to treat this adverse effect.

We report a case of Yersinia enterocolitica sepsis in a 23 year old woman with transfusion-dependent beta-thalassemia major and iron overload treated with deferasirox. Although yersiniosis is a recognized complication of iron overload syndromes treated with desferrioxamine, Y. enterocolitica sepsis has not previously been reported in association with deferasirox. This case underscores the importance of considering iron-avid organisms as potential pathogens and initiating appropriate broad empiric antimicrobial coverage as well as discontinuing chelating agents in iron-overloaded patients. Given the current paucity of evidence and lack of consensus regarding appropriate antibiotic regimens for Yersinia sepsis, which we review briefly, we highlight the importance of consulting an Infectious Diseases specialist early in the course of illness.

Both our patients with advanced emphysema and hyperinflation underwent endoscopic volume reduction with endoscopic tissue sealant (AeriSeal®), collateral flow was confirmed by using the Chartis system®. Both patients experienced transient fever with elevated leukocyte counts and increased serum acute phase protein, malaise, chest discomfort and shortness of breath after the procedure. We gave both patients broad- spectrum antibiotics with supportive prednisolone 30 mg for around 7 days. They both benefited from this combined therapy and were able to recover fast. The follow- up evaluations of those two patients showed improved lung function (increased FEV 1, improved 6- minute walk test and a reduction of RV) with improved quality of life of both patients.

The presentation of acute dyspnoea during pregnancy and immediate postpartum period is less common, but should bring a number of important conditions to the mind of the attending physician. Pulmonary embolism, amniotic fluid embolism, pulmonary aspiration, undiagnosed cardiac disease and peripartum cardiomyopathy are some of the potentially devastating causes that must be considered in differential diagnosis. Women of child bearing age may have asymptomatic mitral valve disease which becomes unmasked during the hemodynamic stress of pregnancy particularly in third trimester and labour. Irrespective of cause, initiation of appropriate resuscitation is the priority. After resuscitation physician should focus on diagnosis and specific treatment of clinical condition. Here we present a diagnostic dilemma in acute pulmonary edema following caesarean delivery managed successfully with drug therapy and noninvasive ventilation. Echocardiography proved to be of great value as diagnostic tool.

Patients with neuromuscular disease that affects the respiratory pump can experience mild to profound limitation in both ventilation and cough. They frequently present recurrent pulmonary infections, respiratory failure, hypoventilation and atelectasis. We describe the case of a 22-years-old patient with Duchenne Muscular Dystrophy, he was referred to our hospital with persisten fever (>38°C), dyspnea and respiratory failure. Chest CT showed parenchymal consolidation. The patient was treated with antibiotics and rehabilitation therapy, bronchial endoscopy, cough assist, but only with the use of High Frequency Chest Wall Oscillation followed by mechanical in-exsufflation (MI-E) for cough assistance, we observed clinical and radiological improvement. We suggest that High Frequency Chest Wall Oscillation can be helpful for neuromuscular patient, particularly in cases of difficult clinical management hospedalizations.

Intellectual Disability is a non progressive developmental condition which significantly affects cognition, learning and adaptive behavior of an individual. Currently, there is no treatment available for intellectual disability. However, the therapies available focus mainly on the symptoms of the patient and do not address its core neuropathology. Neurorestorative strategies such as cellular therapy may benefit in these disorders. To study the effect of cellular therapy in intellectual disability, we administered a 13 year old boy with autologous bone marrow mononuclear cells, intrathecally. As a part of the protocol, he was also put on a personalized rehabilitation program. Follow up was done at 3 months and 6 months. No major adverse events were recorded post intervention. In a period of 6 months, he showed improved eye contact, cognition, learning ability, behavior and ability to perform activities of daily living. His score on Functional Independence Measure increased from 67 to 76. On comparing the pre and post PET CT scan, improvement in metabolic activity of hippocampus, left amygdala and cerebellum was recorded. These changes correlated to the functional outcome. These changes suggest that cellular therapy in combination with rehabilitation may repair the neuronal networks in intellectual disability, hence improving processing of information. It was found to be a safe and effective therapeutic modality. Hence, cellular therapy may provide hope for patients and caregivers to improve their quality of life.

Penile strangulation from metallic and non-metallic objects has been reported since 1755. The largest series of such cases was reported by Dakin in 1948, with the presenting age between 15 to 56 years. Penile strangulating objects are usually rings, nuts, bottles, bushes, wedding rings etc. in an adult, while in children they tend to be rubber bands threads or hair coils. In adults these constricting penile bands, whether expandable or non-expandable, are placed deliberately by the person himself for masturbation or by the female counterpart to prolong erection. Although condom catheters are more comfortable and less painful than indwelling catheters, they are not completely without risk. Various complications have been described in the literature, including skin irritation, maceration, ulceration, allergic reactions, urinary tract infections, fistula formation, penile edema, localized ischemia, and gangrene. We describe two cases of penile glans strangulation leading to auto amputation caused by a rubber band and another case of distal penile gangrene due to strangulation by tight condom catheter.

Background: Ewing’s sarcoma is usually identified as a primary malignancy of the bone affecting children and young adults. It is associated with soft tissue extension in 90% of cases. Primarily extraskeletal Ewing’s sarcoma is a rare subtype, and very few data are available concerning optimal treatment modalities.
Case Presentation: We report a case of an 18 year-old female from Cabo Verde in her 34th week of pregnancy presenting with a rapid growing cervical tumor. It had initially started as an indolent swelling at the left cervico-posterolateral region. CT had shown involvement of both superficial and deep cervical fascia. At time of presentation, the histologic diagnosis of a peripheral Primitive Neuroectodermal Tumor/Extraskeletal Ewing’s sarcoma had already been provided. To reduce risk of fetal metastasis, the child was delivered by caesarean section. A chest CT of the patient revealed pulmonary metastasis and compressive atelectasis of the left lung caused by the tumor. Three weeks post partum, she presented with loss of muscular function of the extremities as well as parestesia and bladder dysfunction. A repeat CT confirmed medullar compression at the level of C5-C6, C6-C7 and C7-D1 by the tumor without signs of bone metastasis. 5 sessions of palliative radiotherapy were performed that led to parcial recovery of muscular function of the upper right extremity. Palliative chemotherapy was refused, so that the patient was released from hospital. No metastasis had been detected in the child so far. Conclusion: Extraskeletal Ewing’s sarcoma can manifest as a rapidly growing localized mass causing local compression symptoms. Palliative radiotherapy can achieve local tumor reduction and symptom relief.

Dystonia is an extra-pyramidal motor function disorder characterized by intermittent spasmodic or sustained involuntary muscle contractions of the face, neck, trunk, pelvis and extremities causing repetitive movements and postural abnormalities. A 10-year-old male child was presented to the emergency department with complaint of regular rhythmic spasms on the head. He was diagnosed as dystonic reaction induced by cefuroxime axetil. After cessation of the therapy and administration of 2.5 mg of biperiden intravenously, the spasms were stopped. Our aim is to make up an awareness of this adverse drug reaction when prescribing such antibiotic in children.

Proliferative myositis is one of several benign, rapidly enlarging tumours of soft tissue that are often confused with sarcoma. We present an unusual case of proliferative myositis in a 7 year female involving right submandibular region. Proliferative myositis is a rare, inflammatory tumour that is often misdiagnosed as sarcoma. The clinical course of proliferative myositis is benign, and simple excision is curative.

As defined by the Oxford-Unabridged Dictionary “stigma” is a mark of “infamy, disgrace, or reproach” its derived from the Latin “tattoo, indicating slave or criminal status”; originating from stizein, the Greek word for “a recognizable sign made by burning or cutting a part of the skin of a less valued member of society with an aim of distinguishing him/her from the rest of the members.

William Osler wrote: “Variability is the laws of life and as no two faces are the same, so no two bodies are alike, and no two individuals react alike and behave alike under the abnormal conditions which we know as disease.”