Showing papers in "Case Reports in 2013"

The CARE guidelines: consensus-based clinical case reporting guideline development.

Abstract: A case report is a narrative that describes, for medical, scientific or educational purposes, a medical problem experienced by one or more patients. Case reports written without guidance from reporting standards are insufficiently rigorous to guide clinical practice or to inform clinical study design. Develop, disseminate and implement systematic reporting guidelines for case reports. We used a three-phase consensus process consisting of (1) premeeting literature review and interviews to generate items for the reporting guidelines, (2) a face-to-face consensus meeting to draft the reporting guidelines and (3) postmeeting feedback, review and pilot testing, followed by finalisation of the case report guidelines. This consensus process involved 27 participants and resulted in a 13-item checklist—a reporting guideline for case reports. The primary items of the checklist are title, key words, abstract, introduction, patient information, clinical findings, timeline, diagnostic assessment, therapeutic interventions, follow-up and outcomes, discussion, patient perspective and informed consent. We believe the implementation of the CARE (CAse REport) guidelines by medical journals will improve the completeness and transparency of published case reports and that the systematic aggregation of information from case reports will inform clinical study design, provide early signals of effectiveness and harms, and improve healthcare delivery.

Internal carotid dissection caused by an elongated styloid process (Eagle syndrome)

Abstract: Eagle syndrome (symptoms associated with an elongated styloid process (SP)) is commonly divided into two presentations. First, the so-called classic Eagle syndrome where patients can present with unilateral sore throat, dysphagia, tinnitus, unilateral facial and neck pain and otalgia. Second, there is the vascular or stylocarotid form of Eagle syndrome in which the elongated SP is in contact with the extracranial internal carotid artery. We describe two cases of internal carotid artery dissection associated with an elongated SP. One is a patient with ischaemic stroke and another with transient ischaemic attacks caused by an elongated SP. A surgical resection of the SP was performed on the former patient. Both patients were treated with anticoagulation and recovered well. A literature search only revealed two prior descriptions of carotid dissection in the context of an elongated SP.

Treatable Leigh-like encephalopathy presenting in adolescence.

Abstract: Wernicke's encephalopathy is a triad of ophthalmoplegia, ataxia and confusion seen in alcoholics with dietary vitamin B1 (thiamine) deficiency. A rare genetic defect of thiamine transporter-2 may lead to similar clinical features, biotin-thiamine responsive basal ganglia disease (BTBGD). A 15-year-old girl developed rapid onset ptosis and ophthalmoplegia evolving into a subacute encephalopathy. Neuroimaging demonstrated symmetrical basal ganglia and mid-brain lesions reminiscent of Leigh's subacute necrotising encephalomyelopathy. Oral biotin and thiamine were started, and symptoms improved dramatically the next day. The therapeutic response suggested SLC19A3, encoding thiamine transporter-2, as a strong candidate gene and Sanger sequencing revealed a novel homozygous c.517A>G;p.Asn173Asp mutation, which segregated with disease within the family. BTBGD is a potentially treatable neurological disorder and should be considered in the differential diagnosis of Leigh syndrome and Wernicke's encephalopathy. Since delayed treatment results in permanent neurological dysfunction or death, prompt diagnosis and early initiation of biotin and thiamine therapy are essential.

C reactive protein may not be reliable as a marker of severe bacterial infection in patients receiving tocilizumab

Abstract: This is a case of a 65-year-old man with seropositive erosive rheumatoid arthritis (RA), well controlled on methotrexate, sulfasalazine, low-dose prednisolone and monthly infusions of tocilizumab. He presented with a 3-week history of pain and swelling in his left knee, gradually increasing in severity with an inability to bear weight . He was systemically well with normal vital signs. Examination confirmed an effusion and aspiration was turbid in appearance. C reactive protein (CRP) was normal. He was treated empirically with antibiotics. Synovial fluid and blood cultures confirmed Staphylococcus aureus infection. He completed a 6 weeks course of antibiotics with complete resolution of symptoms. Throughout the treatment his CRP remained normal which is likely to have been the result of prior treatment with tocilizumab.

Subacute combined degeneration of the spinal cord following recreational nitrous oxide use

Abstract: We describe a case of a young woman who developed myelopathy and peripheral neuropathy following 1 year of recreational nitrous oxide (N2O) use. She presented with uncomfortable tingling sensation in her feet and poor balance. Physical examination revealed mild weakness and hyper-reflexia in the lower limbs. Proprioception and vibration were absent in the lower limbs. Pinprick and light touch sensations were reduced below the sixth thoracic dermatome. A broad-based gait and a positive Romberg sign were noted. The level of vitamin B12 was low (76 pmol/l). T2-weighted MRI scans showed hyperintensity changes at the posterior column from the second to the fifth cervical vertebrae. She made a full recovery following injections of vitamin B12 and physiotherapy. This case discusses subacute combined degeneration of the spinal cord on a background of N2O abuse.

Autologous tenocyte implantation, a novel treatment for partial-thickness rotator cuff tear and tendinopathy in an elite athlete

Abstract: Tendinopathy and small partial-thickness tears of the rotator cuff tendon are common presentations in sports medicine. No promising treatment has yet been established. Corticosteroid injections may improve symptoms in the short term but do not primarily treat the tendon pathology. Ultrasound-guided autologous tenocyte implantation (ATI) is a novel bioengineered treatment approach for treating tendinopathy. We report the first clinical case of ATI in a 20-year-old elite gymnast with a rotator cuff tendon injury. The patient presented with 12 months of increasing pain during gymnastics being unable to perform most skills. At 1 year after ATI the patient reported substantial improvement of clinical symptoms. Pretreatment and follow-up MRIs were reported and scored independently by two experienced musculoskeletal radiologists. Tendinopathy was improved and the partial-thickness tear healed on 3 T MRI. The patient was able to return to national-level competition.

An easily missed diagnosis: flank pain and nutcracker syndrome.

Abstract: A 27-year-old woman presented to her primary care doctor's office with left flank pain. CT of the abdomen showed an isolated left renal vein thrombus. The clot was initially attributed to her oral contraceptive use; however, closer inspection of CT images revealed nutcracker phenomenon (compression of the renal vein between the superior mesenteric artery and abdominal aorta). Intravascular ultrasound imaging confirmed the diagnosis. Nutcracker syndrome is a rare condition, which if left untreated may cause damage to the left kidney. Although under diagnosed, there are several treatment options available ranging from simple surveillance to surgical resolution.

Methylene blue reverses recalcitrant shock in β-blocker and calcium channel blocker overdose.

Abstract: β-blocker and calcium channel blocker toxicity generally present with bradycardia and hypotension. A 69-year-old woman presented after a suicide attempt with a β-blocker and calcium channel blocker overdose. Her blood pressure was 69/35 mm Hg and her HR was in the 40s. She was treated with calcium chloride, glucagon, a dextrose–insulin infusion and three vasopressors, but remained hypotensive. She suffered two cardiac arrests and required a transvenous pacemaker. When all interventions failed, she was started on a methylene blue infusion for refractory vasodilatory shock which resulted in a dramatic improvement in her blood pressure. The patient was successfully weaned off all vasopressors and from mechanical ventilation without any end-organ damage.

Diffuse parenchymal lung disease caused by surfactant deficiency: dramatic improvement by azithromycin.

Abstract: Pulmonary surfactant deficiency caused by mutations in ABCA3 (ATP-binding cassette transporter of the A subfamily, member 3) gene results in diffuse parenchymal lung disease (DPLD) in children. So far, systemic steroids are the main treatment, with however limited efficacy. We report the case of a young boy showing a dramatic long-term improvement of respiratory disease by low-dose azithromycin (AZM) with no side effect after 6 years of treatment. Cellular and molecular studies are ongoing to progress in the understanding of the mechanisms involved. On behalf of the National Reference Center for rare lung diseases in France (Respirare, http://www.respirare.fr), clinical studies on AZM in various forms of DPLD in children have been initiated and should provide information on the types of paediatric DPLD that may benefit from this treatment.

Case Report: Phenibut dependence

Abstract: Phenibut is a γ-aminobutyric acid (GABA) agonist designed and used as an anxiolytic in Russia. In Western countries, phenibut is not a registered medication but is available through online stores as a supplement. We present a case of a patient who used phenibut to self-medicate anxiety, insomnia and cravings for alcohol. While phenibut was helpful initially, the patient developed dependence including tolerance, significant withdrawal symptoms within 3–4 h of last use and failure to fulfil his roles at work and at home. He finally sought medical assistance in our addictions clinic. We have gradually, over the course of 9 weeks, substituted phenibut with baclofen, which has similar pharmacological properties, and then successfully tapered the patient off baclofen. This required approximately 10 mg of baclofen for each gram of phenibut.

Cold-induced urticaria: challenges in diagnosis and management

Abstract: Cold-induced urticaria (CU) is a chronic physical urticaria that can be hard to diagnose and manage. Symptoms of CU can vary from mild localised urticaria, angio-oedema to anaphylaxis. CU may be induced by a wide range of cold triggers from aquatic activities to ingestions of cold substances. This exemplifies the importance of accurate diagnosis and management of patients with CU. We present three cases of CU that demonstrate the variability in triggers and clinical presentation.

Successful management of immunological rejection following allogeneic simple limbal epithelial transplantation (SLET) for bilateral ocular burns

Abstract: A 41-year-old woman presented with bilateral total limbal stem cell deficiency, one year after chemical injury. She underwent allogeneic simple limbal epithelial transplantation (SLET) from a cadaveric donor in her right eye. One month later her unaided visual acuity (VA) improved to 20/100 from hand-motions. The corneal surface was avascular and epithelialised. Three months later, she presented with acute pain in right eye with peripheral corneal neovascularisation encircling the transplants, engorged and tortuous perilimbal vessels and diffuse epithelial haze. For a diagnosis of allograft rejection, pulse doses of intravenous methyl prednisolone with intensive topical steroids were administered. Her symptoms resolved in a week, confirming the diagnosis. She recovered her pre-rejection VA. She was maintained on systemic immunosuppressive agents. Her ocular surface continues to be stable. This case describes hitherto unknown clinical features of allograft rejection following SLET and emphasises the importance of continued immunosuppression in allogeneic limbal transplantation.

ACE-inhibitor induced angio-oedema treated with complement C1-inhibitor concentrate

Abstract: ACE-inhibitor is an antihypertensive drug which is increasingly used to treat a wide range of medical conditions. A known adverse reaction is angio-oedema of the head and neck, which can become fatal when the upper airway is involved, causing asphyxia. We present a Caucasian man, who developed severe angio-oedema of the tongue and floor of the mouth. He was successfully treated with complement C1-concentrate causing the swelling to regress within 20 min. This treatment option can be an effective alternative to bradykinin antagonists, which might not be available in the emergency room, or more invasive measures like intubation or emergency airway puncture.

Antiglycine receptor antibody and encephalomyelitis with rigidity and myoclonus (PERM) related to small cell lung cancer

Abstract: A 39-year-old man (a lifetime non-smoker) presented with a locked left jaw and leg myoclonus. Clinical and electromyographic findings were in keeping with progressive encephalomyelitis with rigidity and myoclonus (PERM) syndrome. A thoracic CT scan demonstrated a 19 mm right hilar nodule, which was proven to be small cell lung cancer on bronchoscopic biopsy. Serological evaluation of the patient's plasma revealed antibodies against glycine receptors (serology negative for anti-GAD, anti-Yo, anti-Hu, anti-Ri, antiamphiphysin, anti-Ma2/Ta, anti-CRMP5 and anti-NMDA receptor). After his cancer was treated with chemotherapy and intravenous immunoglobulins (IVIg), neurological symptoms resolved but returned several months later without any evidence of cancer recurrence. Symptoms were refractory to corticosteroids and IVIg therapy. Rituximab was then initiated, which led to a dramatic and sustained resolution of symptoms. To our knowledge, this is the first case of PERM related to antiglycine receptor antibodies from paraneoplastic syndrome, which resolved with rituximab.

Long-lasting response to crizotinib in brain metastases due to EML4-ALK-rearranged non-small-cell lung cancer

Abstract: Anaplastic lymphoma kinase (ALK) rearranged non-small-cell lung cancer (NSCLC) is highly responsive to crizotinib, an oral ATP-competitive selective inhibitor of ALK. However, crizotinib exhibits extremely poor blood–brain barrier penetration; therefore, it is considered to play a limited role in the treatment of brain metastases. We present a case of a 50-year-old man with a diagnosis of ALK-rearranged NSCLC with brain metastasis and malignant pleural effusion. Despite the several systemic chemotherapy regimens and whole brain radiotherapy, brain metastasis was refractory; therefore, crizotinib was initiated. A CT scan showed a slight reduction in the brain metastasis and no change in intrathoracic disease 17 weeks after initiating crizotinib. Moreover, CT obtained 12 months after crizotinib treatment revealed brain metastasis without progression. To our knowledge, the present case is the second report of crizotinib-responsive brain metastases due to echinoderm microtubule-associated protein-like 4-ALK (EML4-ALK)-rearranged NSCLC.

Sarcoid panuveitis associated with etanercept treatment, resolving with adalimumab.

Abstract: We presented a case of a 54-year-old woman, who developed sarcoidosis uveitis while on treatment with the tumour necrosis factor α (TNFα) antagonist etanercept for rheumatoid arthritis. Her condition improved, but did not recover completely after the medication was stopped. After starting her on another TNFα antagonist, adalimumab, the uveitis recovered completely. Etanercept and adalimumab are from the same class of medication, but have different effects on other mediators and cells, which may explain these discrepancies.

Canine olfactory detection of malignant melanoma.

Abstract: Our patient is a 75-year-old man who presented after his pet dog licked persistently at an asymptomatic lesion behind his right ear. Examination revealed a nodular lesion in the postauricular sulcus. Histology confirmed malignant melanoma, which was subsequently excised. Canine olfactory detection of human malignancy is a well-documented phenomenon. Advanced olfaction is hypothesised to explain canine detection of bladder, breast, colorectal, lung, ovarian, prostate and skin cancers. Further research in this area may facilitate the development of a highly accurate aid to diagnosis for many malignancies, including melanoma.

Idiopathic granulomatous mastitis, erythema nodosum and bilateral ankle arthritis in an Iranian woman.

Abstract: Here we report a case of idiopathic granulomatous mastitis (IGM) associated with erythema nodosum (EN) and ankle arthritis. The skin, joint and mammary symptoms improved with corticosteroid. Coincidence of granulomatous mastitis, EN and arthritis is a rare feature.

Combined infection of vertebroplasty and aortic graft after intravesical BCG treatment.

Abstract: We report a 58-year-old man with spondylodiscitis by Mycobacterium bovis-BCG 3 years after intravesical BCG treatment, and shortly after a vertebroplasty. Further examination showed a psoas abscess and oedema around an endovascular aortic graft, which had been placed 1 year earlier. Puncture of the psoas abscess also grew M bovis-BCG. The patient recovered with a combination of antituberculous treatment and surgery. With hindsight a mycotic aneurysm had been present at the time of aortic graft placement and spondylodiscitis at the time of vertebroplasty. This case shows that low grade and longstanding infections may occur following intravesical BCG installation.

Management of an infant having natal teeth.

Abstract: Eruption of teeth at or immediately after birth is a relatively rare phenomenon. These teeth are known as ‘natal’ teeth if present at birth and ‘neonatal’ teeth if they erupt during the first 30 days of life. Natal teeth might resemble normal primary dentition in size and shape; however, the teeth are often smaller, conical and yellowish and have hypoplastic enamel and dentin with poor or absent root formation. Complications include difficulty and discomfort during suckling, sublingual ulceration, laceration of the mother’s breasts and aspiration of the teeth. These situations would warrant extraction. If the tooth does not interfere with breast feeding and is otherwise asymptomatic, no treatment is necessary. Negative cultural attitudes towards natal teeth demand good parental counselling and vigilant management in relation to child protection. Both general practice dentists and paediatric dental specialists may be involved in the supervision or treatment of patients with natal and neonatal teeth.

Jung's archetype, ‘The Wounded Healer’, mental illness in the medical profession and the role of the health humanities in psychiatry

Abstract: Carl Jung used the term, ‘The Wounded Healer’ as an archetype to describe doctors who have suffered from an illness. Reading and writing autobiographical narratives of the ‘Wounded Healer’ is gaining popularity among doctors with mental illness as an effective form of adjunctive therapy. Moreover, reading autobiographical narratives of psychopathology sufferers can ‘augment’ service providers’ humanity by offering valuable qualitative insights into minds afflicted with a psychiatric disorder. The primary author, a doctor of Middle-Eastern descent practicing in the UK, composed an autobiographical narrative about his personal experiences with oscillations in his mood in an attempt to illustrate the cultural, religious and psychosocial factors that influence disease detection, progression, treatment and outcome. An inordinate amount of misconceptions about mental illness abound. We hope that this manuscript will help to lessen the stigma associated with those who suffer from psychopathology (particularly doctors) and encourage sufferers to engage with the appropriate services.

Plantaris rupture: why is it important?

Abstract: Plantaris muscle is accessory plantar flexor of calf, a vestigial muscle of triceps surae complex. Its importance lies in the fact that its rupture cans mimic deep vein thrombosis (DVT). Sometimes when there is rupture of Achilles tendon, intact plantaris can still cause plantar flexion at ankle presenting a confusing picture. We present one such case of plantaris rupture confused by radiology resident with DVT. A 51-year-old man had a feeling as if kicked in back of calf along with a snapping sound and severe pain while playing tennis. On seeing fluid between muscle plane and a hypoechoic structure radiology resident labelled it DVT. MRI suggested ruptured plantaris as fluid and muscle stump were seen between gastronemius and soleus. Patient was treated conservatively with rest, ice compression and elevated leg and showed significant reduction in pain and swelling.

Posterior reversible encephalopathy syndrome after bevacizumab therapy in a normotensive patient.

Abstract: Posterior reversible encephalopathy syndrome (PRES) is a neurological disorder characterised by distinct radiological features. Common precipitants of this disorder include acute medical illness, hypertensive crisis, eclampsia, immunosuppressive therapy and chemotherapy. We present the case of a patient with advanced ovarian carcinoma who developed PRES shortly after receiving bevacizumab (Avastin), an inhibitor of vascular endothelial growth factor. The patient's medical history and clinical presentation both suggest bevacizumab as the precipitator for PRES. This agent has been often overlooked as a possible cause of this rare neurological syndrome.

High-dose thiamine as initial treatment for Parkinson's disease

Abstract: Parkinson's disease (PD) is a systemic disease with motor and non-motor deficits. We recruited three patients with newly diagnosed PD. They were not under anti-Parkinson's therapy. Plasmatic thiamine was within healthy reference range. We performed the Unified Parkinson's Disease Rating Scale (UPDRS) and started a parenteral therapy with high doses of thiamine. The therapy led to a considerable improvement in the motor part of the UPDRS ranging from 31.3% to 77.3%. From this clinical observation, it is reasonable to infer that a focal, severe thiamine deficiency due to a dysfunction of thiamine metabolism could cause a selective neuronal damage in the centres that are typically hit in this disease. Injection of high doses of thiamine was effective in reversing the symptoms, suggesting that the abnormalities in thiamine-dependent processes could be overcome by diffusion-mediated transport at supranormal thiamine concentrations.

Successful autologous simple limbal epithelial transplantation (SLET) in previously failed paediatric limbal transplantation for ocular surface burns

Abstract: A 3-year-old child sustained severe ocular surface burns in her left eye after accidental lime injury. Despite appropriate management in the acute stage, she developed limbal stem cell deficiency (LSCD) in that eye. This was initially treated with autologous ex vivo cultivated limbal epithelial transplantation (CLET), which unfortunately failed after 6 months resulting in recurrence of LSCD. One year following CLET, she underwent simple limbal epithelial transplantation (SLET) using autologous donor tissue from the healthy fellow eye. Successful restoration of the ocular surface following SLET combined with amblyopia therapy led to significant cosmetic and functional improvement. One year following SLET her vision in the left eye was 20/80 and she continues to maintain a stable, avascular and completely epithelised corneal surface. This case illustrates that SLET is effective in treating LSCD even in cases that are conventionally considered to be at high risk for failure of limbal stem cell transplantation.

Granulocyte colony-stimulating factor (G-CSF): a mediator in endometrial receptivity for a patient with polycystic ovary (PCO) undergoing in vitro maturation (IVM)

Abstract: Proliferative and secretory changes at the endometrial lining are the result of a complex intrauterine environment where sex steroid hormones and different local factors play an important role for endometrial thickening. Optimal endometrial thickness reflects an adequate maturation which is a key factor for embryo implantation. Here, we present a case of a woman with polycystic ovary who was treated using in vitro maturation (IVM) techniques. In addition, this patient showed a dyssynchrony between the endometrial phase characterised by endometrial thinning and the embryo development which had a negative impact for embryo implantation. A protocol using uterine perfusion of granulocyte colony-stimulating factor (G-CSF) was performed as an alternative treatment for the unresponsive endometrium. We found that uterine infusion of G-CSF quickly increased endometrial thickness resulting in a successful pregnancy and healthy born baby. These results suggest that G-CSF is a factor that participates during endometrial remodelling enhancing the synchronisation between uterine environment and embryo development.

Bilateral optic perineuritis as the presenting feature of giant cell arteritis

Abstract: Optic perineuritis (OPN) is an uncommon inflammatory disorder of the optic nerve sheath. Most cases are idiopathic, though OPN can rarely occur as a manifestation of vasculitic diseases. We describe the case of a 74-year-old Caucasian man presenting with diplopia and bilateral visual loss. A brain MRI showed bilateral OPN without involvement of other structures. All the tests performed to investigate OPN's aetiology showed negative results. Considering clinical presentation and neuroimaging findings, a diagnosis of bilateral idiopathic OPN was made. Treatment with intravenous high-dose steroid was administered. Four weeks after admission, the steroid therapy was interrupted because of Listeria monocytogenes invasive infection. After steroid treatment withdrawal, the patient developed jaw claudication and bilateral skin necrosis of the temporal region, clinical features that are highly specific for giant cell arteritis (GCA). On this basis, a diagnosis of bilateral OPN secondary to GCA was made.

Angina bullosa haemorrhagica

Abstract: Angina bullosa haemorrhagica is the term used to describe benign subepithelial oral mucosal blisters filled with blood that are not attributable to a systemic disorder or haemostatic defect. It is a very rare condition. Elderly patients are usually affected and lesions heal spontaneously without scarring. The pathogenesis is unknown, although it may be a multifactorial phenomenon. Trauma seems to be the major provoking factor and long-term use of steroid inhalers has also been implicated in the disease. We present a 50-year-old patient with angina bullosa haemorrhagica. Trauma by sharp cusp of adjacent tooth and metal crown were identified as aetiological factors in this case. Lesions healed after removal of the metal crown and rounding of the cusp. Therefore, recognition of the lesion is of great importance to dentists, to avoid misdiagnosis.

Vertebral osteomyelitis caused by Mycobacterium abscessus.

Abstract: Mycobacterium infection caused by non-tuberculous mycobacterial (NTBM) organisms is becoming more common. Although NTBM osteomyelitis is unusual, it can occur in otherwise healthy individuals, but it is also associated with immunocompromised states, such as steroidal therapy and AIDS, and may be observed following trauma. Mycobacterium avium is reported to be the most common causative agent, and Mycobacterium abscessus has only been described in two cases. We report the case of a 44-year-old man with history of hepatitis C diagnosed with osteomyelitis of the thoracic spine caused by M abscessus. We present a literature review of NTBM osteomyelitis and a discussion of its diagnosis and treatment.

An unexpected positive hypersensitive reaction to eugenol

Abstract: Eugenol is an active, principal aromatic liquid responsible for several pharmacological activities. It is widely used in dental practice to relieve pain arising from various sources, such as pulpitis and dentinal hypersensitivity. As a primary irritant and sensitiser, it is known to cause contact urticaria as well as chronic urticaria. However, eugenol causes allergic contact dermatitis, possibly because it can react directly with proteins to form conjugate and reactive haptens. It is found that eugenol in various dental preparations-especially in the case of some zinc oxide–contains preparations such as periodontal dressings and root canal cements. This can cause hypersensitivity when it comes in contact with gingiva or teeth. This article presents a case of immediate allergic contact urticaria to eugenol during dental treatment.