Description of a novel RyR2 mutation in a juvenile patient with symptomatic catecholaminergic polymorphic ventricular tachycardia in sleep and during exercise: a case report

Catecholaminergic polymorphic ventricular tachycardia is an inherited disease presenting with arrhythmic events during physical exercise or emotional stress. If untreated, catecholaminergic polymorphic ventric...

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Successful Management of Blue Rubber Bleb Nevus Syndrome (BRBNS) with Sirolimus

Blue rubber bleb nevus syndrome (BRBNS) is a rare disease with vascular malformations in several systems of the body, most commonly the skin and gastrointestinal tract. Bleeding from the gastrointestinal (GI) tract is a major complication, which may lead to chronic iron deficiency anemia and the need for frequent blood transfusions due to ongoing gastrointestinal blood loss. In this case report, we describe a now 19-year-old female with BRBNS who required six blood transfusions per year and after starting sirolimus is symptom- and transfusion-free.

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Massive retroperitoneal dedifferentiated liposarcoma in a young patient

Abstract

Liposarcomas are rare malignant tumors that mostly develop in the retroperitoneum. They have a broad behavioral spectrum, from small masses of tissue to highly aggressive tumors. The dedifferentiation process occurs in up to 10% and it's most likely to occur in the retroperitoneum, a process that not only changes its components but also its prognosis. These tumors can grow to a massive size since most of them do not give any symptoms until they invade the adjacent structures. Timely detection and surgery could avoid all these potentially lethal scenarios. We present a case of a 34-year-old patient, who reported a growing mass in her abdomen that reached massive proportions but remained untreated due to lack of sufficient access to healthcare facilities in her geographic location. After complete removal of the mass the patient underwent complete recovery, dedifferentiated liposarcoma was the final diagnosis.

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Synchronous malignant phyllodes tumour and invasive lobular carcinoma—case report and review

Abstract

Synchronous phyllodes tumour and invasive lobular carcinoma is an extremely rare event. We report these concurrent diagnoses in a patient observed in an ipsilateral breast, suspected due to breast risk factors (family history and lobular carcinoma in situ) and the presence of malignant phyllodes. Screening breast magnetic resonance imaging was able to identify the carcinoma which was occult in other imaging. An understanding of the possibility of dual diagnoses may lead to additional investigations for its identification. Treatment may then be tailored to the individual's pathology.

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Giant myxoid liposarcoma of the gluteal region: case report of patient caused delay of surgical treatment and review of the literature

Abstract

Although adult soft tissue sarcoma is a rare disease, it needs individual treatment by an experienced, interdisciplinary team. We present an exceptional case of a 36-year-old woman suffering from a giant intermediate grade myxoid liposarcoma of the left buttock. She had been seen 4 years earlier but refused to undergo any treatment by then. Now suffering from a foul, ulcerating and superinfected tumor she agreed to surgical treatment. Despite delay, treatment could be performed according to the most up to date sarcoma guidelines which are discussed, including a brief review of the literature.

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Spontaneous resolution of a spontaneous steinstrasse: a case report

Abstract

A 63-year-old man presented with a 4-day history of right sided loin-to-groin pain. Computed tomography imaging revealed a 22 mm by 7 mm volume of contiguous ureteric calculi at the right vesicoureteric junction. Spontaneous steinstrasse was diagnosed with no recent history of extracorporeal shock wave lithotripsy (ESWL) or other urological intervention to the right kidney. Metabolic testing was negative. An initial plan was made for urgent primary ureteroscopy and lithotripsy, however, the patient spontaneously passed 20–25 calculi at home whilst awaiting his operation date. He was reviewed in clinic and his symptoms had resolved. His ureteroscopy was cancelled. This case represents an example of spontaneous steinstrasse with no identified causative factors, a rare occurrence on which little literature is available presenting a management dilemma to the treating clinician. The case described resolved prior to intervention prompting us to suggest that spontaneous steinstrasse can be initially managed conservatively, as in ESWL-associated steinstrasse.

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Trans-luminal repair of a ruptured AAA with Type Ia and Type II endoleaks

Abstract

Ruptured abdominal aortic aneurysm (rAAA) with an associated Type II endoleak is rare. Emergent surgical repair is often necessary and may be associated with high morbidity and mortality. We report an alternative unique trans-luminal repair strategy in an 84-year-old male who presented with a rAAA with prior EVAR, and Type Ia and Type II endoleaks. The operative strategy consisted of proximal endograft extension into the para-renal aorta, followed by staged sac embolization using glue. Postoperatively, the patient recovered well from the repair, and follow-up imaging demonstrated a stable repair.

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A case of type II Mirizzi syndrome treated by simple endoscopic means

Abstract

Mirizzi syndrome is an uncommon complication of chronic cholelithiasis. Advancement in radiological modalities and minimally invasive surgery has led to improved pre-operative diagnoses and more laparoscopic cholecystectomies. But for unsuitable surgical candidates, endoscopy can be the definitive treatment. In this case, we present a 67-year-old man with type II Mirizzi syndrome treated by simple endoscopic means.

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Torticollis as Presentation for Atypical Kawasaki Disease Complicated by Giant Coronary Artery Aneurysms

Kawasaki disease (KD) is an acute systemic vasculitis of childhood. The diagnosis can be made in a patient who presents with a prolonged high fever and meeting at least four of five criteria including polymorphous rash, mucosal changes, extremity changes (including swelling and/or palmar and plantar erythema), bilateral nonsuppurative conjunctivitis, and unilateral cervical lymphadenopathy. Atypical KD refers to patients who have not met the full criteria and in whom atypical features may be present. We discuss a case of a 6-year-old male who presented to the Emergency Department with torticollis. A series of investigations for elevated inflammatory markers revealed dilated coronary artery aneurysms on echocardiogram, and thus he was diagnosed with atypical KD. His only other criteria were bilateral nonsuppurative conjunctivitis and a prior brief febrile illness. He was treated with high-dose intravenous immune globulin (IVIG) and low-dose aspirin. Low-molecular-weight heparin and atenolol were added due to the presence of giant aneurysms.

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Rare case of adult pancreatic haemangioma and literature review

Pancreatic haemangiomas are benign vascular tumours very rare in adults. Twenty-two cases are described in the literature. The symptoms are non-specific, and therefore rarely clinically suspected, and the vast majority are incidental findings in imaging tests such as ultrasound, CT, angiography or MRI. They appear on CT as a cystic lesion with contrast enhancement in the arterial phase. We present the case of a 36-year-old male patient with no history of disease, referred with lumbar pain and suspected renal calculus after tomography showing hypervascular enhancement in the pancreatic body and infiltrative lesion (possible neuroendocrine neoplasia) on MRI and biliopancreatic echoendoscopy. He was submitted to laparotomy with subtotal pancreatectomy and splenectomy and satisfactory evolution.

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Uncommon manifestation of leptospirosis: a diagnostic challenge

Leptospirosis is a zoonotic disease commonly affecting the tropical countries. It may have protean clinical manifestations including hepatorenal dysfunction, myocarditis, pulmonary haemorrhage, meningitis, optic neuritis and rhabdomyolysis. Neurological manifestation of leptospirosis without the classical hepatorenal dysfunction is a rare entity. This complication of leptospirosis can present with diverse central and peripheral neurological presentations. The overlapping clinical manifestations with many common tropical pathogens often pose diagnostic dilemma and delay in definitive therapy may lead to adverse clinical consequences. We report a case of a 19-year-old man with no prior comorbidities presenting with high-grade fever and altered sensorium. He was diagnosed to be a probable case of leptospirosis, based on all available test results and by fulfilment of parameters under modified Faine's criteria. The patient was successfully managed and discharged in stable condition.

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Isoniazid-induced pure red cell aplasia

The pure red cell aplasia (PRCA) is an uncommon side effect of isoniazid. We describe a 28-year-old man who developed a severe anaemia caused by PRCA. The patient received antituberculous therapy including isoniazid for his pulmonary tuberculosis. On discontinuation of isoniazid, the anaemia recovered promptly. PRCA should be considered in case of unexplained anaemia during isoniazid treatment.

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Solitary vallecular neurofibroma presenting with respiratory obstruction: an unusual presentation

An occurrence of vallecular neurofibroma with airway obstruction is extremely rare and to the best of our knowledge, no case report has been documented in the literature to date. Although microlaryngeal surgery with cold knife excision is the standard surgical procedure offered to patients of vallecular lesions, it can be successfully managed with the help of endoscopic coblation as later can provide a bloodless surgical field preventing the unmet need for the tracheostomy and reducing the postoperative morbidities.

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RCC in cross ectopic kidney: a challenging diagnosis and management

Description 

A 57-year-old woman with a 5-month history of left-upper quadrant (LUQ) abdominal pain was referred after a retroperitoneal mass was discovered on CT scan of the abdomen and pelvis. Clinical history revealed mild LUQ abdominal pain over the course of 5 months, associated with anorexia, unintended weight loss and several episodes of painless gross haematuria. Physical examination was positive for an ill-defined mass in the LUQ extending to the umbilical region. Routine laboratory tests did not reveal abnormal findings except for microscopic haematuria. CT scan images revealed a left cross ectopic kidney fusing laterally with the lower pole of right kidney in addition to a mass measuring 7.5x8.5 cm emerging from the ectopic kidney. The mass extended to the left flank crossing the abdominal aorta and passing behind the inferior mesenteric artery. This structure mimicked a horseshoe kidney (figures 1 and 2). Retrograde pyelography confirmed...

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Woman with lower back pain, SIADH and a twist of Lyme

A 62-year-old woman was admitted with a 3-week history of atraumatic bilateral lower back pain, progressive ascending flaccid paralysis, hyponatraemia and constipation. She was otherwise in good health with only a recent diagnosis of acute gastroenteritis that preceded her presenting symptoms. Her initial laboratory evaluation was consistent with Syndrome of Inappropriate Antidiuretic Hormone (SIADH) but was otherwise unremarkable. MRI of the spine revealed bilateral diffuse nerve root enhancement from at least C6 to the conus level, suggesting an inflammatory process. Lumbar puncture demonstrated high protein (629 mg/dL) with marked pleocytosis (363 cells/mcL) incompatible with albuminocytological dissociation typically seen in Guillain-Barre syndrome. A thorough diagnostic evaluation was undertaken to explore potential infectious, malignant and autoimmune conditions. Lyme disease serology (ELISA and Western Blot, IgM and IgG) was positive leading to a final diagnosis of lymphocytic meningoradiculitis or Bannwarth syndrome.

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Large mesenteric lymphangioma in an adult patient: an unusual presentation of a rare disease

Lymphangiomas are most commonly described as a small painless mass in the neck or a vesicular rash in an infant patient. Ninety per cent of cases are diagnosed before the age of 2. Treatment usually involves surgical resection. Intra-abdominal lymphangiomas and mesenteric lymphangiomas, as described in our case report, represent a rare pathology. The exact prevalence of this condition is unclear but it has been suggested in the literature that there have been as few as 820 cases since the 16th century. The clinical presentation is usually subacute and diagnosis made incidentally during a workup of chronic gastrointestinal symptoms. Acute abdominal symptoms, as in our case presentation, are unusual but may be explained by the mass effect of a large intra-abdominal lesion. Cross-sectional imaging is key in preoperative workup and operative planning. Complete surgical resection is recommended and curative in the majority of cases with a low risk of local recurrence.

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Pericardial sarcoma

Pericardial sarcomas are extremely rare aggressive neoplasms. Non-specific symptoms and incidental discovery are usually the rule. Multimodality imaging is extremely important for diagnosis and tissue characterisation of all cardiac masses. Despite treatment, pericardial sarcomas are considered extremely fatal. We encountered a 27-year-old female patient who presented to our facility with progressive dyspnoea. On examination, clinical signs of cardiac tamponade were appreciated, transthoracic echocardiography revealed a tamponading pericardial effusion and a large heterogeneous pericardial mass. Pericardiocentesis revealed haemorrhagic fluid. Subsequently, CT revealed a pericardial mass compressing the right atrium. Excision biopsy showed a well-circumscribed mass, and cut sections showed friable grey–white tissue with areas of haemorrhage and necrosis. Pathological examination confirmed the diagnosis of high-grade undifferentiated sarcoma of the pericardium. The patient was started on adjuvant chemotherapy and radiotherapy. Follow-up after 1 year showed no relapse.

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Cutis marmorata telangiectatica congenita with skin ulceration: a rare benign skin vascular malformation

Description 

Cutis marmorata telangiectatica congenita (CMTC) is a sporadic congenital disorder characterised by localised or generalised cutaneous vascular anomaly. CMTC was first described in 1922 by Van Lohuizen as a pattern of reticulate erythema and telangiectasia infrequently associated with skin atrophy and/or ulceration.1 It is a rare benign skin lesion that is often apparent at birth with more than 50% of patients with CMTC having variations of associated defects. Body asymmetry is the most common (33%) associated anomaly reported.1

A 5-day-old female baby was born at term following an uneventful pregnancy. At birth, she weighed 2800 g, and her growth profile was appropriate for her age. Her general physical examination was unremarkable except for the appearance of a 3x4 cm bluish-purple skin lesion over the right knee. The skin lesion had erythematous reticulated appearance at the periphery and ulceration at the centre with subcutaneous atrophy (

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Strangulated urethral prolapse in a postmenopausal woman presenting as acute urinary retention

Description 

A 48-year-old woman presented with acute urinary retention for 1 day and severe periurethral pain for last 3 days. She also revealed a history of occasional blood spotting of undergarments, dysuria and a protruding mass from the urethra for the last 3 months. Her medical/surgical and personal histories were unremarkable. Her obstetric history revealed presence of three normal vaginal deliveries and menopause at the age of 45 years. Local examination revealed presence of irreducible dusky red oedematous tender donut-shaped swelling measuring 2x2 cm around the urethral orifice suggestive of strangulated urethral prolapse (figure 1). A gentle attempt at reduction of the prolapsed mass was done under sedation which was successful following which a Foley catheter was placed. Cystourethroscopy revealed excess urethral mucosa with normal bladder mucosa. Ultrasonography of the abdomen was suggestive of normal bladder parameters with bilateral normal upper tracts. After proper counselling and consent, the patient was taken for surgery under general anaesthesia....

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Case of solitary plasmacytoma of tibia

Description 

A 58-year-old diabetic man presented to the outpatient department with pain in his right leg of 6 months' duration. The pain was insidious in onset and gradually progressive. He was unable to bear weight on the affected side. On clinical examination, there was tenderness over the medial aspect of the upper part of the leg. The knee range of movements was limited and painful. The distal neurovascular examination was normal.

Plain X-ray of the knee (figure 1) showed an eccentric lytic lesion in the proximal end of the tibia with a pathological fracture of the medial wall. There was no periosteal reaction. Plain and contrast MRI study (figure 2) revealed a well-defined heterogeneously enhancing altered signal eccentric intramedullary lesion in the proximal metadiaphyseal region of the tibia with cortical breaks. The patient was taken up for open incisional biopsy, and prophylactic fixation of the proximal...

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Pulmonary capillary haemangiomatosis causing pulmonary arterial hypertension: a clinicians conundrum

Description 

Pulmonary capillary haemangiomatosis (PCH) is a rare cause of pulmonary hypertension which poses a considerable diagnostic challenge. Here, we describe the case of a 14-year-old boy with gradually progressive exertional dyspnoea and cough for past 4 months. Frontal chest radiograph demonstrated prominent pulmonary artery segment with diffuse nodular opacities in bilateral lung fields (figure 1A). CT angiography was performed to diagnose the aetiology of pulmonary artery hypertension. It revealed dilated central pulmonary arteries (figure 1B) with multiple ill-defined centrilobular nodules diffusely distributed in both lungs (figure 1C,D). No interlobular septal thickening, pulmonary thromboembolism, pleural effusion or any intracardiac/extracardiac shunt was seen. A provisional diagnosis of PCH was made which was subsequently confirmed on a lung biopsy.

Figure 1

Frontal chest radiograph (A) revealing prominent pulmonary artery segment with reticulonodular opacities predominantly involving the lower zones. No Kerley lines were noted....

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Dermatomyositis with anti-TIF1-{gamma} antibodies

Description 

We report the case of a 61-year-old Turkish male patient who presented to our dermatology outpatient clinic with a 1-year history of swelling and pruritic erythema rash of the face and trunk. He reported associated myalgia and arthralgia of the knees and wrists. Two months before presentation, he developed muscle weakness of upper limbs and dyspnoea. On review, he was noted to have unintentional weight loss (5 kg over 2 months) and increasing fatigue. His medical and family histories were unremarkable. His medications included omeprazole daily and vitamin B₁₂ injections. Prior to presentation to our clinic, his general practitioner treated the patient with antihistamines, topical steroids (Elocom) and a short course of oral corticosteroid therapy which only provided temporary relief. Laboratory data demonstrated C reactive protein 6 mg/L (normal value (NV) <5 mg/L), haemoglobin 11.9 g/dL (NV 13–18 g/dL), lactate dehydrogenase 467 U/L (NV 135–225 U/L), creatinine phosphokinase 295 U/L (NV 30–190 U/L), Aspartate transaminase (GOT)...

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Myasthenia gravis crisis coinciding with asthma exacerbation in a patient with recent heroin use: three causes of acute hypercarbic respiratory failure

A 57-year-old woman with a history of asthma, hypertension and substance abuse disorder was admitted to the medical intensive care unit with hypercapnic respiratory failure. After the history was obtained, patient admitted heroin use earlier that day. The initial physical examination revealed right eye ptosis, diplopia, fatigability of neck flexion and extension. She also presented with wheezing and a prolonged expiratory phase. Pupils were 4 mm, with sluggish response to light bilaterally. CT chest with contrast showed a large mediastinal mass. Three different processes coexisted in this patient: simultaneous occurrence of a myasthenia gravis crisis, asthma exacerbation and a component of heroin use. This case highlights a series of overlapping clinical features that could lead to potential confounding and misdiagnosis. Respiratory symptoms improved after initial treatment for asthma exacerbation, but ptosis, diplopia and fatigability of neck muscles persisted.

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