New Horizons in Clinical Case Reports最新文献

Introduction

Partial segmental thrombosis of the corpus cavernosum (PSTCC); known as partial priapism; is an uncommon urological condition which predominantly affects young men in which the proximal part of one corpus cavernosum is thrombosed. Many risk factors are described in the literature, the exact etiology of penile thrombosis and its pathogenesis remains unclear. Several treatment options are available ranging from conservative medical treatment with NSAIDs, antibiotics, analgesics, low molecular weight heparin, acetylsalicylic acid and antibiotics, surgical or to a follow-up observation without treatment. In this study we presented a sickle cell patient who presented with pain and perineal swelling and diagnosed with PSTCC using MRI and was treated conservatively.

Case description

A 23-year-old male, known case of sickle cell anemia, presented to casualty with a 1-day history of perineal pain of a sudden onset, increasing in severity, no aggravating or relieving factors. It was associated with perineal swelling, decrease in urine output and vomiting, not associated with urethral discharge, erectile dysfunction, trauma, sexual contact, fever, abdominal pain, lower urinary tract symptoms, change in bowel habits, or bleeding per rectum. He had a past history of left pyeloplasty in childhood. He was a smoker, non-alcohol consumer with a family history of liver malignancy. Examination revealed a stable vitals, abdomen was soft and non-tender, genitourinary exam findings confirmed the absence of priapism. There was a normal circumcised penis, normal bilateral testis and epididymis, separated perineal mass slightly hard in consistency, fixed and tender at the proximal part of the penis. Digital rectal examination was unremarkable. The complete blood count showed mild leukocytosis, electrolytes, coagulation profile, urine analysis and urine culture were unremarkable. MRI perineal and penis showed the right intratunical corpus cavernosum with altered signal intensity involving the root, proximal and mid third sparing the distal third of corpus cavernosum, maximum width of 26mm (predominantly hyposignal intensity with few areas of hypersignal intensity). Visualized Buck’s fascia and tunica albuginea were intact. Features mostly suggestive of right corpus cavernosum hematoma. Conservative treatment was initiated with 6 hourly IV paracetamol and the response was observed with gradually disappearing pain, reduction in swelling size and leukocytic count. On follow up patient was pain free, reduction in swelling size with a recovery of painless erection. A follow up ultrasound of the scrotum and a hematologist referral were arranged.

Results and conclusions

PSTCC is not an urological crisis and has an excellent prognosis. Conservative treatment appears to be a reliable therapeutic option. Surgery is reserved for patients in whom conservative management fails.

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.

Introduction

Infliximab is an effective therapy for induction and maintenance of remission in patients with refractory ulcerative colitis (UC). Treatment with TNF-alpha inhibitors is associated with an increased risk of infection. In this case, we will discuss an uncommon cause of infection associated with infliximab therapy despite antibiotic prophylaxis.

Case description

78-year-old man with history of UC maintained on infliximab infusion every 8-weeks was found to have pulmonary infiltrates on chest computed tomography (CT). His UC history was notable for recent Pneumocystis jiroveci pneumonia while on infliximab requiring intravenous Trimethoprim/Sulfamethoxazole (TMP/SMX) treatment for 21 days followed by single strength oral TMP/SMX for secondary prophylaxis. On evaluation, the patient endorsed weakness, generalized fatigue, and shortness of breath with activities. His lab was notable for mild anemia in the absence of leukocytosis.

Result and conclusion

Bronchoscopy was performed and bronchoalveolar lavage fluid was sent to the microbiology laboratory for culture. After 30 days of incubation, the culture returned partially acid fast, branching, Gram-positive rod shaped bacteria consistent with Nocardia cyriacigeorgica. The isolate was susceptible to TMP/SMX (0.25/4.75μg/Ml). Patient was started on therapeutic dose of oral TMP/SMX at 5 mg/kg of the trimethoprim component for 6 months. Infliximab was subsequently held. Repeat chest CT scan at 6 months showed resolution of patchy ground glass and nodular infiltrates.

Take-home message

This case highlights the importance of considering Nocardia infection in ulcerative colitis patients receiving infliximab therapy presenting with shortness of breath and new infiltrates on chest imaging. In addition, patients receiving prophylaxis with TMP/SMX are still at risk for this infection because the effectiveness of prophylactic doses of TMP/SMX in preventing disease remains unclear.

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.

Objectives

Currently, the primary treatment for solid tumors is the surgical resection. In the surgery, the complete surgical resection of the cancer tissues is essential to the prognosis of cancer patients. However, even in US, 40% of the cancer patients have the local recurrence in 5 years from the initial surgery, due to the failure to detect all the cancer tissues intraoperatively since cancers are highly heterogeneous in surface morphology and anatomical structures. We designed a novel visible/near-infrared (VIS/NIR) quantitative imaging method to help surgeons improve pancreatic cancer resection by providing quantitative intraoperative cancer diagnosis.

Method

All the clinical studies were performed according to an approved protocol by the Emory Institutional Review Board (protocol #: IRB00053609). Before the surgery, the patient receives an intravenous injection of indocyanine green (ICG). After 3-8 hours, the tissues of interest, are inspected intraoperatively with our lab-developed VIS/NIR imaging system. The VIS/NIR imaging system consists of two parts: a) a portable VIS/NIR camera imaging system for quick detection of potential cancers; b) a hand-held spectroscopic device for quantitative tissue assessment. Two IEEE 1394 cameras were assembled into an optical tube platform (Thorlabs, USA) to record VIS and NIR signals simultaneously.

Results

We have conducted dozens of clinical trials on human pancreatic cancer in Emory University Hospital and Saint Joseph's Hospital in Atlanta, GA, USA. Over two hundred sample tissues from various pancreatic cancer surgeries, including distal pancreatectomy, Whipple procedure, and total pancreatectomy, were inspected with our imaging system. Within 1 sec, our device can quantitatively differentiate cancerous tissues from non-cancerous tissues intraoperatively: primary tumor and positive margins showed more than 200% stronger ICG fluorescence than normal tissues and negative margins did. The overall diagnosis accuracy of pancreatic cancer by our system is 93.7%.

Conclusions

In summary, we developed a comprehensive imaging system to provide surgeons with instantaneous (<1sec) cancer identification intraoperatively, compared to the traditional lengthy histopathological consultation (20-30mins for intraoperative frozen section procedure with lower diagnosis accuracy, or hours-days for postoperative formalin fixed paraffin-embedded tissue preparation). Compared to the other reported imaging systems, our system has a unique advantage in providing quantitative NIR spectral analysis on the tissues of interest. This feature makes it possible to differentiate many tissues that current prevailing camera imaging systems cannot distinguish.