Cocaine is a potent sympathomimetic agent associated with the development of possible fatal cardiovascular complications. Dysrhythmias, acute myocardial infarction, hypertension and dilated cardiomyopathy are just some of many cardiovascular effects related to the abuse of cocaine.
A 38-year-old Hispanic male with a past medical history of hypertension presented with a chief complaint of progressive shortness of breath. The patient confessed to the use of cocaine for almost 18 years once per week. On examination he was hypertensive and tachycardic with a systolic murmur over the 5th intercostal space at the level of the left mid-clavicular line. Laboratory workup revealed an elevated Brain natriuretic peptide; urine toxicology was positive for cocaine. 2D-echocardiogram showed dilated cardiomyopathy. Cardiac catheterization excluded angioischemic cause. He was managed medically and subsequently discharged with drug rehabilitation. On follow-up diagnostic evaluation after 5 months of cocaine cessation, his ejection function improved significantly.
The exact incidence of cocaine related cardiomyopathy is unknown and likely underreported. The clinical course is abrupt and comparatively similar to other types of cardiomyopathy. The management is like other forms of cardiomyopathy; however β-blockers should be avoided. The myocardial dysfunction is reversible with abstaining from additional cocaine ingestion. Non-invasive testing should be performed after several months to re-evaluate the treatment response.
Cocaine; Dilated cardiomyopathy; Congestive heart failure; Catecholamine
Ewing’s sarcoma uncommonly arises from extraosseous soft tissue or parenchymal organs. Primary adrenal Ewing’s Sarcoma, although very rare, is extremely aggressive and commonly fatal.
A 17 year old Pakistani male was referred to the outpatient oncology clinic at our center with a three month history of concomitant pain, swelling and dragging sensation in the right hypochondrium. Abdominal examination revealed a large, firm mass in the right hypochondrium extending into the right lumbar region and epigastrium. His genital exam was unremarkable and there were no stigmata of hepatic or adrenal disease.
Computed tomography scans revealed a large peripherally enhancing mass in the hepatorenal area, biopsy of which showed a neoplastic lesion composed of small round blue cells which exhibited abundance of glycogen and stained diffusely positive for CD99 (MIC2 antigen). Fluorescence in situ hybridization demonstrated gene rearrangement at chromosome 22q12 which confirmed the diagnosis of Ewing’s sarcoma. Staging scans revealed pulmonary metastasis and hence he was commenced on systemic chemotherapy.
This case report highlights the importance of keeping Ewing’s sarcoma in mind when a young patient presents with a large non-functional adrenal mass.
Ewing’s sarcoma; Adrenal; CD99
Pseudoxanthoma elasticum is an inherited disorder that is associated with accumulation of pathologic elastic fibers in the skin, vascular walls and Bruch’s membrane in the eye. Choroidal neovascularization is one of the most common causes of acute vision loss in these patients. We report an atypical case of suspected choroidal neovascularization associated with pseudoxanthoma elasticum.
A 47-year-old Caucasian woman with pseudoxanthoma elasticum and angioid streaks was referred because of decreased and distorted vision in her right eye of one week’s duration. Visual acuity was 6/12 in the right eye and 6/6 in the left eye. Fundus examination revealed angioid streaks and white intraretinal macular deposits bilaterally. Fluorescein angiography did not reveal any obvious leakage in the right eye while optical coherence tomography revealed subretinal fluid associated with an adjacent intraretinal hyperreflective structure. Autofluoresence imaging showed focal areas of increased autofluorescence corresponding to the deposits in both eyes. Over the following year the patient underwent five intravitreal injections of bevacizumab (Genentech/Roche,US) in the right eye, which resulted in visual acuity improving to 6/9 with regression of the hyperreflective structrure and complete resolution of subretinal fluid.
Traditionally, fluorescein angiography is effective in the detection of choroidal neovascularization in patients with pseudoxanthoma elasticum. In our case, optical coherence tomography revealed subretinal fluid and an adjacent hyperreflective structure while fluorescein angiography did not reveal any obvious leakage. The sole presence of subretinal fluid does not necessarily imply the presence of choroidal neovascularization and certainly retinal pigment epithelium dysfunction could also explain subretinal fluid in these patients. However, the complete absorption of the fluid and the disappearance of the previously evident hyperreflective structure following treatment, led us to suspect choroidal neovascularization as the primary cause of the above findings. The poor natural course of choroidal neovascularization in these patients increases the importance of early detection and should result in the adaptation of a low-threshold strategy concerning the initiation of treatment.
Bevacizumab; Choroidal neovascularization; Pseudoxanthoma elasticum
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis is a rare tubulopathy leading to renal calcification and progressive renal failure.
We report a consanguineous Arab family (of Qatari origin) with 7 affected siblings with variable phenotypes including hypomagnesaemia, hypercalciuria, nephrocalcinosis and renal stones. Presenting features included haematuria and recurrent urinary tract infections. As the biochemical and clinical phenotypes of this family resembled familial hypomagnesaemia with hypercalciuria and nephrocalcinosis, we performed genetic investigation in order to provide a precise molecular diagnosis. We screened all coding regions of the CLDN16 gene and identified a novel mutation (c.G647A, p.R216H) which was found homozygously in the six severely affected cases, who manifested significant nephrocalcinosis, often nephrolithiasis and sometimes reduced GFR. Parents were both heterozygous for the mutation and, together with children carrying the mutation in its heterozygous state, exhibited mild or no biochemical phenotypes.
Mutations in CLDN16 underlie familial hypomagnesaemia with hypercalciuria and nephrocalcinosis but remain a rare cause of nephrocalcinosis and nephrolithiasis. Management includes reduction of hypercalciuria with thiazide diuretics, correction of serum magnesium and close monitoring of renal function given the significant risk of end stage renal failure with this inherited form of nephrocalcinosis.
CLDN16; Claudin-16; Hypercalciuria; Hypocalcaemia; Hypomagnesaemia; Nephrocalcinosis; End stage renal disease
Although a number of studies have reported acquired drug resistance due to administration of epidermal growth factor receptor antibody inhibitors, the underlying causes of this phenomenon remain unclear.
Here we report a case of a 75-year-old man with liver metastasis at 3 years after a successful transverse colectomy to treat KRAS wild-type colorectal cancer. While initial administration of epidermal growth factor receptor inhibitors proved effective, continued use of the same treatment resulted in new peritoneal seeding. An acquired KRAS mutation was found in a resected tissue specimen from one such area. This mutation, possibly caused by administration of epidermal growth factor receptor inhibitors, appears to have conferred drug resistance.
The present findings suggest that administration of epidermal growth factor receptor inhibitors results in an acquired KRAS mutation that confers drug resistance.
KRAS; Acquired resistance; Cetuximab
Auricular tophi are firm deposits of monosodium urate in crystal form, which may slowly develop in subcutaneous tissue of the ear. Ear is not usual locations for gout tophi, but when this growth does occur, helix and the antihelix are common sites.
We present a 64-year-old man who had multiple painless nodules over bilateral helix. An excisional biopsy was performed. Hematoxylin-eosin staining of biopsy specimens revealed a proteinaceous matrix that surrounded dissolved crystals, consistent with gout tophi. Bilateral auricular tophi are not common and may resemble a number of other diseases including squamous cell carcinomas, Kaposi’s sarcoma, epidermal and dermoid cysts, rheumatoid nodules. Biopsy should be performed to rule out malignancy.
Tophi of the auricle are usually asymptomatic but can become inflamed and occasionally ulcerate through the overlying skin. Chronic tophaceous gout is treated with dietary control and medication. Surgical excision is performed under local anesthetic if symptoms progression or cosmetically deformity is concerned.
Novel therapeutic agents are currently being investigated for neuroendocrine tumour treatment.
We report here on the case of a patient presenting with hypersensitivity pneumonitis while being treated with everolimus, a mammalian target of rapamycin (mTOR) inhibitor.
Side effects of everolimus should be familiar to clinicians, including nonspecialists, and be monitored carefully to allow for prompt management.
Neuroendocrine tumor; Everolimus; Hypersensitivity pneumonitis
Delirium is a frequently misdiagnosed and inadequately treated neuropsychiatric complication most commonly observed in terminally ill cancer patients. To our knowledge this is the first report describing delirium in two patients aged less than 60 years and enrolled in an intensive chemotherapeutic protocol for acute promyelocytic leukemia.
Two female Caucasian acute promyelocytic leukemia patients aged 46 and 56 years developed delirium during their induction treatment with all-trans retinoic acid and idarubicin. In both cases symptoms were initially attributed to all-trans retinoic acid that was therefore immediately suspended. In these two patients several situations may have contribute to the delirium: in patient 1 a previous psychiatric disorder, concomitant treatments with steroids and benzodiazepines, a severe infection and central nervous system bleeding while in patient 2 steroid treatment and isolation. In patient 1 delirium was treated with short-term low-doses of haloperidol while in patient 2 non-pharmacologic interventions had a beneficial role. When the diagnosis of delirium was clear, induction treatment was resumed and both patients completed their therapeutic program without any relapse of the psychiatric symptoms. Both patients are alive and in complete remission as far as their leukemia is concerned.
We suggest that patients with acute promyelocytic leukemia eligible to intensive chemotherapy should be carefully evaluated by a multisciplinary team including psychiatrists in order to early recognize symptoms of delirium and avoid inadequate treatments. In case of delirium, both pharmacologic and non-pharmacologic interventions may be considered.
Acute promyelocytic leukemia; Delirium; ATRA
Metastatic melanoma involving the esophagus is rare; the occurrence of metastatic melanoma in a background of Barrett esophagus is rarer still. We report a case of an 80 year-old male who presented to our institution for workup of Barrett esophagus with high-grade dysplasia and who proved to have metastatic melanoma occurring in the background of Barrett esophagus, the first report of this kind, to our knowledge, in the English literature.
An 80 year-old Caucasian male was diagnosed at an outside institution with Barrett’s esophagus with high grade dysplasia and presented to our institution for therapy. The patient underwent endoscopic mucosal resection using a band ligation technique of an area of nodularity within the Barrett esophagus. Microscopic examination demonstrated extensive Barrett esophagus with high-grade dysplasia as well as a second tumor which was morphologically different from the surrounding high-grade dysplasia and which was positive for S-100, HMB 45 and Melan-A on immunohistochemistry, consistent with melanoma. Further workup of the patient demonstrated multiple radiologic lesions consistent with metastases. Molecular studies demonstrated that the melanoma was positive for the 1799T>A (V600E) mutation in the BRAF gene. The overall features of the tumor were most consistent with metastatic melanoma occurring in a background of Barrett esophagus with high-grade dysplasia.
This case demonstrates a unique intersection between a premalignant condition (Barrett esophagus with high grade dysplasia) and a separate malignancy (melanoma). This report also shows the utility of molecular testing to support the hypothesis of primary versus metastatic disease in melanoma.
Barrett; Esophagus; Metastases; Melanoma; BRAF
Loeys–Dietz syndrome, also known as Marfan syndrome type II, is a rare connective tissue disorder caused by dominant mutations in transforming growth factor-beta receptors (TGFBR1 and 2).
We report a 7-year-old Japanese boy with Loeys–Dietz syndrome who carried a novel, de novo missense mutation in TGFBR2 (c.1142g > c, R381P). He showed dysmorphic faces and skeletal malformations that were typical in previous cases with Loeys-Dietz syndrome. The cardiac studies disclosed the presence of markedly dilated aortic root and patent ductus aorteriosus. The cranial magnetic resonance imaging (MRI) and angiography (MRA) detected the tortuous appearances of the bilateral middle cerebral and carotid arteries.
This study depicts the systemic vascular phenotypes of a child with Loeys–Dietz syndrome that were caused by a novel heterozygous mutation of TGFR2. A large cohort with serial imaging studies for vascular phenotypes will be useful for delineating the genotype-phenotype correlations of Loeys–Dietz syndrome.
Loeys–Dietz syndrome; Transforming growth factor-beta receptor 2 (TGFBR2); Vascular phenotypes; Magnetic resonance imaging (MRI)
In cases of esophageal hernia, incarceration of peritoneal organs other than the stomach is rare.
An 84-year-old female was admitted to our institution with a complaint of nausea and vomiting. Abdominal computed tomography revealed an esophageal hiatal hernia with incarceration of the gastric antrum and duodenal bulb. Gastrofluorography under gastroendoscopy confirmed prolapse of the antrum and duodenal bulb into the esophageal hernial sac. Although gastroendoscopy guided repositioning of the prolapsed organs was successful, reprolapse occurred immediately. Therefore, surgical treatment was indicated. The gastric antrum and duodenal bulb were associated with a paraesophageal hernia. Therefore, they were repositioned, and passage from the duodenal bulb to the descending portion of the duodenum was improved.
We report a rare case of paraesophageal hernia with incarceration of the gastric antrum and duodenal bulb.
Paraesophageal hernia; Incarceration; Surgery
Bevacizumab, a recombinant humanized monoclonal antibody for vascular endothelial growth factor, has been widely used in various cancers offering substantial clinical benefit. It is reportedly associated with development of high-grade proteinuria and nephrotic syndrome with the histology of thrombotic microangiopathy, but there has been no report describing the development of immunoglobulin A nephropathy in bevacizumab-treated patients.
A 68-year-old man with metastatic rectal cancer was treated with bevacizumab. He presented with hematuria and proteinuria 15 and 17 months, respectively, after bevacizumab initiation. Bevacizumab was stopped at 17 months. Renal biopsy at 19 months revealed immunoglobulin A nephropathy, with numerous paramesangial hemispherical deposits and thrombotic microangiopathy. Electron microscopy showed numerous paramesangial electron-dense deposits of various sizes, and subendothelial injuries. Proteinuria almost completely resolved 8 months after bevacizumab cessation, although hematuria persisted. Follow-up renal biopsy 11 months after bevacizumab cessation showed a marked decrease in mesangial immunoglobulin A deposits and paramesangial electron-dense deposits, which correlated with a gradual decrease in serum immunoglobulin A.
This is the first case report that confirmed histologically the development and resolution of immunoglobulin A nephropathy during and after bevacizumab therapy. This case shows that there may be other mechanisms of glomerular injury by bevacizumab besides glomerular endothelial injury leading to thrombotic microangiopathy.
Bevacizumab; Nephrotic syndrome; Anti-vascular endothelial growth factor therapy; Immunoglobulin A nephropathy
Hand, foot, and mouth syndrome (HFMS) is a common acute illness. It is characterized by mild clinical symptoms including fever, blisters, and sores in the mouth and on the palms and soles following a 3- to 7-day incubation period. This syndrome is rarely seen in adults.
A 35-year-old male Caucasian patient had a history of multiple episodes of acute pharyngitis, hypertension, hypercholesterolemia, and occasional abdominal pain. He presented with polyarthralgia in the knees and hands and odynophagia, followed by fever, oral mucosal aphthous lesions, and vesicles on the palms and soles. Three weeks after presentation, he was admitted to the emergency room with acute myocarditis. The in-hospital evaluation revealed positive serology for coxsackie A9 (1:160), positive anti-transglutaminase and anti-gliadin antibodies, normal immunoglobulins, and human immunodeficiency virus negativity.
We herein describe a case of HFMS that was associated with coxsackie A9 infection complicated by acute myocarditis. Although an association between celiac disease and HFMS has not been described, this patient’s immunologic disruption could have favored the development of infection and ultimately HFMS.
Hand, foot, and mouth syndrome; Myopericarditis; Coxsackie A9; Celiac disease
The combination of Pegylated Interferon-alpha (PEG-IFN-α) and ribavirin is the current standard of care for the treatment of HCV infection. Unfortunately, IFN-α may lead to the induction or exacerbation of autoimmune diseases, such as psoriasis, thyroiditis, systemic lupus erythematosus and, rarely, rheumatoid arthritis (RA).
We report the case of a man affected with chronic hepatitis C (CHC) due to HCV genotype 3a infection, who developed RA after a complete course of PEG-IFN-α and ribavirin. Nine weeks after cessation of antiviral treatment, the patient developed symmetrical polyarthritis, with pain and edema in the wrists, knees, shoulders and metacarpophalangeal joints; magnetic resonance imaging detected initial bone erosions with juxta-articular osteopenia in wrist, knee and hand joints. Anti-cyclic citrullinated peptide (anti-CCP) antibodies were positive.
Autoimmune diseases, including RA, may occur when treating chronic hepatitis C with PEG-IFN-α and ribavirin; therefore, a close surveillance for the occurrence of autoimmune phenomena should be suggested in the setting of HCV management.
Botulism is an acute form of poisoning caused by one of four types (A, B, E, F) toxins produced by Clostridium botulinum, ananaerobic, spore forming bacillus. Usually diagnosis of botulism is considered in patients with predominant motor symptoms: muscle weakness with intact sensation and preserved mental function.
We report a case of 56-year-old Caucasian female with a history of arterial hypertension, who presented with acute respiratory failure and bilateral ptosis misdiagnosed as brainstem ischemia. She had severe external and internal ophtalmoplegia, and autonomic dysfunction with neither motor nor sensory symptoms from upper and lower limbs. Diagnosis of botulinum toxin poisoning was made and confirmed by serum antibody testing in the mouse inoculation test.
Ophtalmoplegia, autonomic dysfunction and respiratory failure can be caused by botulism. Early treatment and intensive care is essential for survival and recovery. The electrophysiological tests are crucial to correct and rapid diagnosis. Botulism (especially type B) should be considered in any case of acute or predominant isolated autonomic dysfunction.
Clostridium botulinum B; Botulism; Dysautonomia
Cancer development results from the progressive accumulation of genomic abnormalities that culminate in the neoplastic phenotype. Cytogenetic alterations, mutations and rearrangements may be considered as molecular legacy which trace the clonal history of the disease. Concomitant tumors are reported and they may derive from a common or divergent founder clone. B-cell chronic lymphocytic leukemia (B-CLL) and plasma cell myeloma (PCM) are both mature B-cell neoplasms, and their concomitancy, albeit rare, is documented.
Here, we described a patient with prior B-CLL with secondary development of PCM. Cytogenetic and multi parametric flow cytometry analyses were performed. The B-CLL population presented chromosome 12 trisomy, unlikely the arisen PCM population.
The close follow up of B-CLL patients is important for early intervention in case of development of other malignancy, such as myeloma. Our observation suggests these two diseases may have arisen from different clones. We understand that the investigation of clonal origin may provide important information regarding therapeutic decisions, and should be considered in concomitant neoplasm.
B-Cell chronic lymphocytic leukemia; Plasma cell myeloma; Chromosome 12 trisomy
Retained surgical instrument or sponge following an intra-abdominal surgery is a potentially dangerous medico-legal problem. The condition may manifest either as asymptomatic or severe gastrointestinal complications. Transmural migration of gossypiboma is a rare entity that may lead to bowel or visceral perforation, obstruction and/or fistula formation. Transmural migration of an intra-abdominal gossypiboma has been reported to occur in stomach, ileum, colon, bladder, vagina and diaphragm. To our knowledge, this is the fifth case reported in the medical literature. However, we report the first case of the largest gossypiboma to date: a surgical gas compress measuring 20 × 20 cm which was successfully treated endoscopically.
A 52-year-old woman with obstructive jaundice was referred to our clinic. She had a medical history of cholecystectomy and T-tube drainage for choledocholithiasis a year previously. Abdominal ultrasonography and computed tomography revealed a mass located into the stomach which was compatible with gastric carcinoma. On the gastroscopy, a surgical gas compress that had totally migrated into the stomach was observed. The compress was successfully removed by gastroscopy through the esophagus. The recovery of the patient was uneventful.
Transmural migration of gossypiboma into the stomach should be considered in the differential diagnosis of any postoperative patient with obstructive jaundice symptoms. Endoscopy may be feasible for both diagnosis and treatment even though the size of gossypiboma is large. However, surgery should be considered in case of fixed reaction or incomplete migration of gossypiboma located into the stomach.
Gossypiboma; Intraluminal migration; Retained surgical sponge; Gastroscopy
The combination of a presacral mass, a sacral bone deformity, and an anorectal malformation are also known as the Currarino triad or Currarino syndrome. The syndrome is associated with a very high rate of severe and intractable constipation and urinary incontinence. However, it can also result in less common complaints and symptoms. Although the syndrome is known since 1981 and the involved genes are clarified to a great extent, the diagnosis may be delayed or missed if unrecognized.
A 24-year old female presented with periodical headaches. She was born with an imperforate anus, absent rectum and colon, double bladder, and sacral defect. Soon after birth she underwent several surgical procedures for anorectal and bladder reconstructions. The patient now came to her pediatric urologist for urinary incontinence and mentioned severe headaches on the side, particularly when riding a bike. Finally, she solved her headache problem by stopping to ride her bicycle.
On physical examination no abnormalities were found except the ileostomy that was present ever since soon after birth and her urinary incontinence. Blood tests showed no abnormalities. Additional MRI showed a large and previously not known anterior meningocele at the level of the sacrum. Surgical treatment consisted of closure of the dura by posterior approach.
In this case report we describe the late discovery with an atypical presentation of an anterior meningocele in a young adult with urinary incontinence, a sacral defect, an anorectal malformation and headaches during bicycle riding. After surgical treatment of our patient the meningocele regressed. Three months after successful surgery she had no complaints and was able to ride a bike again.
Minimally invasive procedures have been applied in treatment of gastric submucosal tumors. Currently, combined laparoscopic - endoscopic rendezvous resection (CLERR) emerges as a new technique which further reduces operative invasiveness.
A-57-year-old female patient presented with epigastric pain. She was submitted to gastroscopy, which revealed a tumor located at the angle of His. Biopsy specimens demonstrated a leiomyoma. The patient underwent endoscopically assisted laparoscopic resection of the tumor. The operative time was 45 minutes. Diagnosis of leiomyoma was confirmed by the final histopathological examination. The patient had an uneventful postoperative recovery and was discharged on the 2nd postoperative day.
Combined laparoscopic and endoscopic rendezvous resection appears as a promising alternative minimally invasive technique. It offers easy recognition of the tumor, regardless of location, safe dissection, and full thickness resection with adequate margins as well as less operative time.
Laparoscopic; Endoscopic; Rendezvous; Tumor; Gastric; Resection
Ovarian hyperstimulation caused by follicle-stimulating hormone-secreting gonadotroph cell adenoma is a rare, with a few reported cases, but almost certainly unnoticed cases occur because of the absence of detailed examinations. We retrospectively reviewed 200 patients treated for gonadotroph cell adenoma in our institute and identified 26 women of reproductive age. Two of these 26 patients had a history of ovarian cysts. One patient was considered to have had typical ovarian hyperstimulation, successfully treated by transsphenoidal surgery. The other patient initially underwent transsphenoidal surgery because of visual disturbance, but endocrinological examinations suggested possible relationships with previous ovarian hyperstimulation. We present the former case and discuss the latent risk of failure to identify this entity.
A 36-year-old woman with a sellar tumor was referred to our hospital with suspected ovarian hyperstimulation. She had a history of repeated surgery for ovarian cysts. Serum follicle-stimulating hormone and estradiol levels were within the normal ranges, and only the luteinizing hormone level was suppressed significantly. Transsphenoidal surgery achieved gross total tumor removal, and the histological diagnosis was follicle-stimulating hormone-secreting gonadotroph cell adenoma. The serum follicle-stimulating hormone, luteinizing hormone, and estradiol levels returned to the normal ranges postoperatively, and the ovarian cysts subsequently decreased in size without particular interventions.
Ovarian hyperstimulation could regress after resolving the causes of high follicle-stimulating hormone level, so avoiding unnecessary ovary surgery. Detailed endocrinological examination including estradiol evaluation with pituitary imaging is quite important in women of reproductive age to establish the correct diagnosis.
Follicle-stimulating hormone; Pituitary adenoma; Estradiol; Ovarian; Hyperstimulation syndrome
Adrenocortical carcinoma is a rare malignancy and rare cause of Cushing’s syndrome.
A 65-year-old seemingly well male patient was referred to our clinic under the suspicion of hyperaldosteronism due to hypertension combined with hypokalemia. However, his serum aldosterone and plasma renin activity were within normal limits. Instead, Cushing’s syndrome was diagnosed by elevated urine free cortisol and a non-suppressible dexamethasone test. Abdominal computed tomography showed a 7.8 × 4.8 cm mass lesion at the right adrenal gland with liver invasion. Etomidate infusion was performed to reduce his cortisol level before the patient received a right adrenalectomy and liver wedge resection. The pathology report showed adrenocortical carcinoma with liver and lymph node metastasis. According to the European Network for the Study of Adrenal Tumors (ENSAT) staging system, the tumor was classified as T4N1M1, stage IV. Recurrent hypercortisolism was found shortly after surgery. The patient died of Fournier’s gangrene with septic shock on the 59th day after diagnosis.
We report a case of rapidly progressive stage IV adrenocortical carcinoma with initial presentations of hypokaelmia and hypertension, mimicking hyperaldosteronism.
Adrenocortical carcinoma; Cushing’s syndrome; Hyperaldosteronism
Intestinal obstruction secondary to intussusception, occurring simultaneously with complete rectal prolapse, is an unusual entity among young adults. When it occurs the intussusceptum may protrude per anus. Few cases are cited in literature; each with a unique clinical presentation. There is apparently no uniform trend in its clinical and pathological picture.
A 38-year-old, African-Ugandan man presented with sudden occurrence of rectal prolapse for one day. He had otherwise been in good health. Symptoms were precipitous. A clinical diagnosis of intussusception of the lower gut with rectal prolapse, and intestinal obstruction, was made. The intussusception was found to have a polyp as the ‘lead point’. He was treated by manual reduction of the intussusception and the prolapse under general anesthesia. Histopathologic examination of the polyp showed it to be an adenoma. Definitive surgical treatment of the patient was not completed due to socioeconomic challenges.
Rectal prolapse and intussusception are commonly childhood conditions. Rectal prolapse alone is commoner in the middle-aged and elderly; females in particular. The finding of this combined clinical entity in a young, adult male is therefore a unique condition with an unusual presentation. It is the first case of its kind reported in East Africa. It is also an example of an adenoma constituting a ‘lead point’ for an intussusception at the gastrointestinal tract’s terminus. Even in the presence of a pre-existing adenoma, a relatively common lesion, other differential diagnoses acting as ‘lead points’ ought to be considered in perspective. This characteristic, along with other features described in this case, is useful knowledge for colorectal surgeons, general surgeons, gastrointestinal pathologists, and gastroenterologists given their involvement in the diagnosis and management of anorectal disease of peculiar presentation.
Intussusception; Complete overt rectal prolapse; Adenoma; Anal protrusion; Intestinal obstruction
Trastuzumab prolongs survival of human epidermal growth factor receptor 2-positive breast cancer patients in both the adjuvant and metastatic settings. Currently toxicity data are not available on retreatment of metastatic breast cancer patients who relapse after adjuvant trastuzumab. We report one patient with metastatic breast cancer who developed acute thrombocytopenia after trastuzumab infusion. This patient had trastuzumab treatment in the adjuvant setting.
A 70-year-old Caucasian woman received a diagnosis of metastatic breast cancer four years after her initial diagnosis of locally advanced, hormone receptors-positive, human epidermal growth factor receptor 2-positive breast cancer. Trastuzumab retreatment was planned. Less than 24 hours after trastuzumab infusion, the patient was admitted to the hospital for the appearance of diffuse petechial hemorrhages and ecchymosis. The patient was confirmed to have a severe trastuzumab-induced thrombocytopenia. A rapid and complete recovery was observed after high-dose intravenous corticosteroids and immunoglobulin. No trastuzumab retreatment was attempted.
Among the reported cases of trastuzumab-induced thrombocytopenia, this is the first report in the literature occurring in a patient retreated with trastuzumab after adjuvant therapy.
Trastuzumab; Breast cancer; Thrombocytopenia
Spontaneous closure of an idiopathic full-thickness macular hole has been reported to occasionally occur. However, the cells involved in plugging the macular hole have not been determined conclusively. We aimed to report the early structural changes that occur during a spontaneous closure of an idiopathic full-thickness macular hole determined by spectral-domain optical coherence tomography.
A 71-year-old Japanese man with an idiopathic full-thickness macular hole and subclinical posterior vitreous detachment in the left eye was followed. Three weeks after the identification of the macular hole, optical coherence tomography showed tissue that protruded from the interior wall of the macular hole at the level of the external limiting membrane toward the center of the macular hole. Five months after the first examination, he returned with improvements of his visual symptoms, and the macular hole was closed by a thin retinal tissue which included the restored external limiting membrane that bridged across the macular hole. However, the inner segment/outer segment junction line was not intact and the fovea was detached. Two months later, optical coherence tomography showed an almost normal foveal configuration with an essentially restored inner segment/outer segment junction line and foveal reattachment.
Our results suggest that Müller cells proliferate and/or extend at the level of the end of the external limiting membrane to form a tissue bridge across the macular hole associated with the external limiting membrane restoration first of all. This leads to the adhesion of other retinal layers and resolution of the foveal detachment.
Idiopathic full thickness macular hole; Spontaneous resolution of macular hole; Optical coherence tomography; Müller cell; External limiting membrane
Nodular lung disease is a rare presentation of sarcoidosis. Radiologically it can present as multiple pulmonary masses or solitary lung nodule.
We report three cases of nodular sarcoidosis in young females of Asian origin who had initially presented with dry cough and worsening dyspnea non-responsive to initially administered antibiotics. Pulmonary nodules were discovered upon radiographic imaging in all three cases which raised concern for the possibility of neoplastic processes. Subsequent biopsies revealed granulomatous inflammation indicative of sarcoidosis. All cases responded very well to systemic corticosteroids.
Sarcoidosis may present as nodular infiltrates which alerts the treating physician to other neoplastic and infectious diseases of the lungs. Appropriate workup may reveal the true nature of this disease and hence, simplify treatment.
Sarcoidosis; Nodular Sarcoidosis; Pulmonary Nodule(s)