New Horizons in Clinical Case Reports最新文献

Introduction

Aneurysms are defined as an abnormal dilation of an artery, vein or cardiac chamber. Aneurysms affecting the inferior vena cava (IVC) are rare, with just over 50 cases in the published literature. They are associated with caval thrombosis. We will discuss the aetiology and management of such cases.

Case description

A 14-year-old girl presented to her local hospital complaining of a two week history of worsening back pain, swelling and discolouration of the legs, and reduced mobility. Imaging suggested a psoas abscess, and drainage was arranged at a regional paediatric centre. Upon review, repeat imaging was sought which indicated an IVC aneurysm rather than a psoas abscess. There was thrombosis within the dilatation extending to the femoral veins which accounted for her symptoms.

Results and conclusions

The patient was anticoagulated in the first instance. The duration of the symptoms meant it was too late for thrombolysis, and the occluded segment was considered too long for conventional venous stenting. She has been placed in compression hosiery and referred to the national centre for ongoing management.

Take-home message

Unusual presentations are often caused by rare pathologies. In any patient presenting with bilateral swollen, purple legs; it is imperative to establish if there is any venous occlusion. This was also an important lesson in being wary of draining supposed psoas abscesses in young patients.

Achalasia is a primary esophageal motility disorder of unknown etiology, characterized by aperistalsis of the esophageal body and impaired lower esophageal sphincter (LES) relaxation. However achalasia is the best characterized esophageal motility disorder, its pathogenesis is still not entirely clarified. Available data suggest that the disease is multifactorial, involving hereditary, autoimmune and environmental factors, such as viral infections, but the exact initiating factors that may play a role in the development of the disease remain unclear. Our hypothesis is that one possible initial insult that leads to the development of achalasia can be the gastroesophageal reflux disease. This theory was first proposed by Smart et al. in 1986. In our case study we report the case of a 65-year-old woman who had typical reflux symptoms with heartburn and regurgitation for about seven years. During the year before her admission to our clinic her reflux symptoms resolved and dysphagia developed. Endoscopy revealed esophageal dilatation with erosive esophagitis, narrowed cardia and hiatal hernia. Biopsies from the distal esophagus showed chronic esophagitis and Barrett’s metaplasia. Barium swallow showed dilated esophageal body with decreased peristalsis, nonrelaxing sphincter and retention of barium. Manometry and 24-hour pH monitoring was performed. The LES pressure was 34.5 mmHg with 11.9% relaxation. 24-hour pH-metry showed acid reflux, with multiple sharp dips characteristic of typical gastroesophageal reflux, with total DeMeester score of 94.6. Using pH 3 as a discriminatory threshold for GERD the reflux score was 64.2. Achalasia and concomitant GERD was diagnosed and the patient underwent laparoscopic surgery. The hiatal hernia was reconstructed and a Heller’s myotomy with a 360 degree Nissen fundoplication was performed. At the 3-year follow-up the patient was symptom free. In summary, based on our experience and the review of the literature we believe that there is a cause-and-effect relationship between gastroesophageal reflux and the development of achalasia. We believe that the development of achalasia in patients with GERD can be a protective reaction of the esophagus against reflux. In these cases the treatment of choice should be different from that of pure achalasia patients: a laparoscopic Heller’s myotomy completed with a 360 degree Nissen fundoplication should be the recommended surgical treatment to minimize the possibility of postoperative reflux disease.

Introduction

Patients presenting with dyspnea are common. Often times, patients carry previously anchored diagnoses, such as COPD, as a cause of their pulmonary symptoms. It is important, however, to perform a thorough history and physical examination in order to consider less common causes of dyspnea, such as in the case of this patient who was diagnosed with amyotrophic lateral sclerosis (ALS). The typical course for this disease process includes progressive limb and bulbar muscular weakness with eventual involvement of the respiratory musculature, ultimately leading to respiratory failure - the most frequent cause of death in ALS within 2 to 5 years of diagnosis.

Case description

A 68-year-old woman presented to the hospital with recurrent episodes of dyspnea and carbon dioxide retention. She has a history of type II diabetes, hyperlipidemia, hypertension, cervical stenosis, and chronic obstructive pulmonary disease (COPD) requiring home oxygen therapy. Her medications included the following COPD regimen: short acting anticholinergic/beta agonist inhaler, mucolytic, steroid, long acting beta agonist nebulizers, and a Trilogy adaptive servo-ventilation device for nighttime breathing assistance. In the ED, workup showed pH 7.34, pCO2 95mmHg, and HCO3 of 50mmHg; chest x-ray was significant for mild hyperexpansion. On examination, she had mild proximal upper extremity weakness, bilateral thenar atrophy, and a nasal voice. She was in the ICU for 24-48 hours for intensive positive pressure therapy because of her severe carbon dioxide retention.

Results and conclusions

Bedside pulmonary function testing was consistent with a restrictive process, and she was diagnosed with obesity hypoventilation. However, her BMI was only 39, and given her history of weakness and thenar atrophy, we were concerned for a neurologic process. Neurology found fibrillations with insertion and prominent fasciculations within the proximal right upper limb muscles on needle electromyography. Ultrasound examination with phrenic nerve stimulation showed reduced recruitment of large, complex motor unit potentials in both hemidiaphragms and intercostal muscles. With this constellation of symptoms, ALS was diagnosed. Other possible diagnoses were ruled out with neuroimaging, serologic, and cerebrospinal fluid studies.

Take-home message

Progressive dyspnea as the major presenting symptom of ALS is exceedingly rare, occurring in less than 1% according to literature. It is important to keep ALS in the differential diagnosis in patients who present with progressive dyspnea and restrictive lung disease on pulmonary function testing because this diagnosis has significant prognostic difference compared to other entities such as obesity hypoventilation syndrome.

Introduction

Diagnostic delay in relapsing polychondritis (RP) is in part explained by the fact that, by definition, the disease has to relapse before the diagnosis can be made, but also by its pluriform clinical presentation: auricular chondritis, arthritis and respiratory tract involvement are the most common signs in RP. Sensorineural hearing loss and vestibular dysfunction, as observed in the case we will describe, are less common, and facial nerve involvement is rare. Furthermore, this case is one of very few in which a cochlear implant was indicated after sudden deafness caused by RP.

Case description

In this case, we describe a 62-year-old female with recurring episodes of sudden deafness, vertigo and facial paresis. Within a month's time, this resulted in bilateral deafness and vestibular areflexia. Erroneously, the patient was diagnosed and treated as having sudden deafness of unknown origin and subsequently neuroborreliosis (Lyme disease). The true diagnosis of RP was revealed 9 months after initial presentation after the patient was referred to our department for cochlear implantation. At this time, an episode of a red and swollen ear occurred, which prompted further examination and subsequent diagnosis. During cochlear implantation, the base of the cochlea was found to be partially calcified. Insertion and hearing rehabilitation were however successful.

Results and conclusions

Timely identification of RP as the cause of this profound sensorineural hearing loss proved to be important. Not only in order to provide suitable follow-up, but because of the risk of cochlear obliteration, which had already begun in our patient and might have hampered optimal hearing rehabilitation. Our recommendation is to urgently refer any patient with bilateral sudden deafness to a cochlear implant center, especially when signs of postinflammatory calcification of the cochlea are identified, like it was in this case of RP.

Take-home message

Due to the pluriform presentation and relapsing nature of RP, patients almost never present with the 'full clinical picture' of RP. Because of this, different doctors of different disciplines (mostly general practitioners, otolaryngologists, ophtalmologists and rheumatologists) see different symptoms at different moments in time. Frequently, symptoms have initially been attributed to other forms of disease, and only careful history taking with attention to symptoms beyond the scope of one's own specialty, will reveal the diagnosis.

Introduction

Occult primary malignancy usually manifested itself as metastases or secondary–paraneoplastic phenomena. Although occult breast cancer usually presented as axillary lymphadenopathy, it could also have other rare manifestations, such as extensive osteolytic lesions which is the typical manifestation of Multiple Myeloma (MM). The similarity in radiological findings made differential diagnosis extremely difficult, especially when primary breast lesion was undetectable by ordinary diagnostic tools. Here we present a rare occult breast cancer case detected only by positron emission tomography (PET) with extensive osteolytic bone metastases that mimicked MM.

Case description

A 48-year-old female patient presented with heart burn, dyspenia and lower back pain. Skeletal survey revealed extensive osteolytic lesions including skull, spine and pelvis (Figure 1A-C), which were highly suspicious for MM. However, there were no Ben-Jones protein in urine and blood sample with mild proliferative bone marrow and normal plasma cell phenotype. Hence, after ruling out MM, PET scan was arranged to screen potential malignancies. It revealed a high uptake lesion in left breast with SUV 2.7 (Figure 1D) and multiple metastases. Although the breast lesion had a high SUV on PET, it was undetectable by mammography and ultrasound.

Conclusions

Extensive osteolytic lesions could be the first symptom of occult breast cancer. PET could be a useful tool for occult malignancies to identify primary lesion. Due to the relative low sensitivity of PET in detection of primary breast lesion, clinicians should be aware of occult breast cancer when PET revealed no implications for primary sites. Tissue biopsy of metastatic diseases could be another option to confirm the diagnosis.

Take-home message

• 1.

  Extensive osteolytic lesions could be the first symptom of occult breast cancer.

• 2.

  PET could be a useful tool to identify primary lesion of occult malignancies.

• 3.

  PET has a relative low sensitivity of primary breast lesion, negative result could not rule out occult breast cancer.

• 4.

  Tissue biopsy of metastatic diseases could be another option to confirm the diagnosis.

Introduction

A 49-year-old man, former top-athlete had "whoops" with residual tumour and re-resection of a pleomorphic rhabdomyosarcoma at the left thigh in 2008 followed by adjuvant radiotherapy. Since 2011 he developed a total of 24 lung metastases. He underwent resection via three right- and two left-sided thoracotomies, one RFA on the right and 8 RFA on the left side, as well as one left-sided stereotactic radiation. Additionally, a single hepatic metastasis was treated by RFA. Palliative chemotherapy (Myocet, Yondelis, Ixoten) proved futile. In spite of increasing technical challenge, another RFA of lung metastasis was scheduled.

Case description

For recurrent metastatic disease to the right lung RFA was applied, treating one central lesion and a second subpleural one, both in the upper lobe. The intervention was done in prone position under anaesthesia/intubation. Immediately after turning the patient to supine position he developed tachycardia followed by bradycardia and cardiac arrest. CPR was successful, but dramatic inflow-occlusion was evident. Immediate CT-control showed large amounts of air in the left heart, in the aorta, the coronary arteries and in the subarachnoidal vessels. While applying external pressure to both carotid arteries cardiac massage was continued in Trendelenburg's position, whereupon the inflow-occlusion lessened.

Results and conclusions

The patient was transferred to the hyperbaric chamber and had re-compression according to Navy 6 protocol starting one hour after the incident. After hyperbaric oxygen therapy (HBO) he opened his eyes and was able to move both legs. On the next day acute, severe hemorrhage from the endotracheal tube developed. CT-Angiography showed a 2cm bleeding pseudoaneurysm of a subsegmental artery at the site of the central RFA. Coil-embolization stopped the bleeding. Weaning problems necessitated tracheotomy. After further 9 HBO treatments neurology was almost normal. Following uneventful removal of the tracheal cannula the patient was discharged two weeks after RFA.

Take-home message

In the palliative setting local treatment of lung metastases can prolong life considerably. Yet multiple interventions may be a risk factor for adverse events. In highly compliant palliative patients with a good performance status severe complications of such measures can be handled.