Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports

The myopathic form of carnitine palmitoyltransferase type II deficiency is an inherited autosomal recessive metabolic myopathy usually starting in childhood. Most reports have been on European and Japanese pop...

https://ift.tt/2oh5j0o

Thrombocytopenia-associated multiple-organ failure (TAMOF): recognition and management

Thrombocytopenia-associated multiple-organ failure (TAMOF) is an increasingly fatal phenomenon that may be associated with sepsis. TAMOF results from immune dysregulation and impaired activity of A Disintegrin And Metalloproteinase with ThromboSpondin type 1 motif, member 13. Early recognition of this premorbid condition and specific management results in a significantly improved outcome. Herein, we report the presentation and management of a 2-year-old child with TAMOF who was successfully treated with plasma exchange and recovered without long-term sequelae.

https://ift.tt/2wghoYo

Corneal epithelial toxicity with intravitreal methotrexate in a case of B-cell lymphoma with ocular involvement

A 49-year-old woman, known case of diffuse large B-cell lymphoma, presented with complaints of floater in both eyes since 3 days. On examination, visual acuity was 0.18 logMAR in both eyes. Indirect ophthalmoscopy revealed presence of vitreous clumps. Vitreous biopsy was done and the histopathological report suggested a diagnosis of ocular lymphoma. The patient was treated with weekly injections of intravitreal methotrexate in both eyes. The patient developed severe photophobia, watering, redness and diminution of vision in the both eyes 2 days following the fifth dose of intravitreal methotrexate. Severe limbitis with annular corneal epitheliopathy and corneal haze was noted on slit-lamp examination. The patient was started on topical lubricants, antibiotic, ciclosporin, loteprednol, folinic acid and oral folic acid. Complete resolution was noted at 2-week follow-up. The patient, however, refused further injections and was kept on close follow-up to look for recurrence of the disease.

https://ift.tt/2P6dOXE

Paraneoplastic cerebellar degeneration as a manifestation of metastatic recurrent carcinoma breast: rare scenario

Carcinoma breast presenting with paraneoplastic cerebellar degeneration is a rare scenario. We report a case of a 52-year-old woman, which is a follow-up case of completely treated carcinoma breast presenting with paraneoplastic cerebellar degeneration which, on investigation, revealed metastatic disease with recurrence at previous scar site and metastasis to contralateral axilla. The patient was given pulse methyl prednisolone therapy and underwent wide local excision of nodule and right axillary lymph node dissection with 14 cycles of trastuzumab and paclitaxel as adjuvant therapy. However, there was no detectable change in neurological symptoms at 6-month follow-up postoperatively. This case report highlights the need for clinicians to be aware of all possible presentations of carcinoma breast and its recurrence, including rare manifestations as in this case.

https://ift.tt/2wijeIh

'Stony shoulder: an exuberant case of glenohumeral synovial chondromatosis with extra-articular extension

Description 

A 27-year-old man presented with a history of 4-year duration of mechanical pain in the left shoulder and a progressive reduction in the range of movements. In the physical examination stands out a swelling of stony consistency on the posterior aspect of the left arm, pain with all active and passive movements of the left shoulder associated with limitation of active and passive abduction above 90°.

The blood tests were normal. The X-ray of the left shoulder showed multiple calcified intra-articular and extra-articular loose bodies (figure 1).

Figure 1

Conventional left shoulder radiography: multiple calcified intra-articular and extra-articular bodies.

A shoulder MRI was ordered demonstrating exuberant expansion of all joint spaces and recesses from the glenohumeral interface to the subcoracoid and subscapularis recess and along the tendon sheath of the long portion of the biceps, which suggested cartilaginous nature with...

https://ift.tt/2Nq3n0S

Recurrent chikungunya retinitis

Chikungunya is a systemic viral disease transmitted to humans by infected mosquitoes in endemic areas of Africa, Asia and more recently in the Americas. Chikungunya infection produces a sudden onset of fever, joint pains and erythematous skin eruption. A plethora of ocular manifestations have been described ranging from a non-specific conjunctivitis to exudative retinal detachment. Ocular chikungunya seems to respond well to corticosteroid therapy, and outcomes are usually better if treated early. Our patient acquired this infection on a travel to Mexico jungle. This was confirmed by ReverseTranscriptase-PCR test once she returned to the UK. The peculiarity of the case is the inordinate delay of almost a year in the onset of eye symptoms, from acquiring the viral infection. The ocular inflammation responded to systemic corticosteroid therapy with a favourable visual outcome. She developed a recurrence many months later which again responded well to a course of oral steroids.

https://ift.tt/2wicjyv

Red, white and blues: Darier disease and mood disorder

Description 

A middle-aged woman presented with a progressively worsening rash for 25 years. The rash was foul smelling and tender, occurring symmetrically in the folds of her abdomen and lower legs. Her medical history was significant for major depressive disorder. She had been receiving care from multiple psychiatrists over the last 10 years, and she has been hospitalised in inpatient psychiatric facilities for acute psychotic episodes. She admitted to having two of five siblings with similar skin problems, both additionally having been diagnosed with mood disorders including bipolar disorder and major depressive disorder. The patient stated the other three siblings were healthy. On examination, the patient had plaques of confluent papules and foul-smelling, weeping patches which were distributed over the folds of her chest and abdomen, as well as the flexure surfaces of her bilateral lower extremities (figure 1). Examination of her nails revealed red and white...

https://ift.tt/2Pcv91n

Amyloidosis: a unifying diagnosis for nephrotic syndrome and congestive cardiac failure

Diagnosing patients simply with heart failure or nephrotic syndrome is insufficient, and clinicians should always search for the underlying causes of these syndromes. Amyloidosis represents a rare group of diseases in which abnormal protein, namely amyloid fibrils, build up in various organs. Presentation depends on which organ systems are involved, and symptoms could include breathlessness associated with fluid overload suggestive of cardiac and/or renal involvement and diarrhoea and weight loss, suggestive of gastrointestinal involvement. The authors present a case of congestive cardiac failure and nephrotic range proteinuria in a patient with persistent fluid overload secondary toamyloid light-chain (AL) amyloidosis.

https://ift.tt/2wiS6sG

Unusual case of dasatinib-associated acute bilateral hyphemas leading to blindness in a patient with chronic myeloid leukaemia

Chronic myeloid leukaemia (CML) is a myeloproliferative disorder with an incidence of 1–2 cases per 100 000 adults per year.¹ Since the International Randomized Study of Interferon and STI571 trial (IRIS trial) in 2003, treatment with tyrosine kinase inhibitors (TKIs) has become the standard of care for patients with newly diagnosed CML in the chronic phase.² Dasatinib is a second-generation TKI and is generally well tolerated, with cytopenias, gastrointestinal (GI) symptoms and fluid retention being the most commonly observed side effects.^3–5 Bleeding complications, although unusual, have been reported with dasatinib, with an incidence ranging from 8% to 24%.^3–6 The most commonly reported site of bleeding is the GI tract.^{3 5} We report an unusual case of dasatinib-associated bleeding presenting with acute bilateral hyphemas, which, to our knowledge, is the first report of its kind.

https://ift.tt/2PcuWeB

Resolution of bulbar and spinal symptoms postcranial dural arteriovenous fistula embolisation

Dural arteriovenous fistulas (DAVF) are uncommon lesions. Multiple classification systems have been proposed to attempt to describe these lesions. We describe the case of a patient with a dorsal epidural DAVF that, while cerebral in origin, presented with classic spinal DAVF symptoms. Following embolisation, the patient had complete radiographic and symptomatic resolution. Classification of these DAVFs by embryological development allows for potential stratification of DAVFs with a different biological aetiology and diverse characteristics to more fully understand disease mechanisms.

https://ift.tt/2wh90aQ

Chronic thromboembolic pulmonary hypertension: an enigma

Chronic thromboembolic pulmonary hypertension (CTEPH) is a form of pulmonary arterial hypertension (PAH) in which the pulmonary thrombus fails to resolve, resulting in occlusion and remodelling of pulmonary arteries.¹ Timely diagnosis is critical since it is potentially curable by pulmonary thromboendarterectomy. Twenty five per cent of cases do not have a history of thromboembolic event. The diagnosis should be considered in the diagnostic work-up of PAH despite lack of history of episodes of thromboembolism. Here we are reporting a case of CTEPH with multiple systemic to pulmonary collaterals delineated by angiogram and CT.

https://ift.tt/2Pbhes7

Additional distal femoral osteotomy for insufficient correction after high tibial osteotomy

A 70-year-old man who was treated with a closed-wedge high tibial osteotomy (HTO) had recurrent right medial knee pain 12 years after the initial osteotomy. We planned a recorrection osteotomy because the patient led an active lifestyle, had well-preserved range of motion and the lateral compartment was still intact. According to preoperative deformity analysis, which indicated a tibia in slight valgus and a femur in moderate varus, recorrection of the distal femur was chosen. Seven degrees of biplanar distal femoral osteotomy (DFO) was performed using a contralateral version of the TomoFix Medial Distal Femur. At 1 year follow-up, the femorotibial angle had improved from 178° to 170°, and the Japanese Orthopaedic Association score had improved from 75 to 95 points. Additional DFO could be a viable alternative for total knee arthroplasty or recorrection HTO when the centre of the deformity is located at the distal femur.

https://ift.tt/2whMy1l

Challenging case of an intramedullary tibial abscess in the setting of chronic osteomyelitis

Description 

This is the case of a 43-year-old wheelchair-user man with a history of hepatitis C, cirrhosis, intravenous drug abuse and a 2-year history of chronic right lower extremity ulcers who presented to the emergency department with 4 days of worsening right leg pain. On physical exam, there was a new area of fluctuance on the anterior tibial surface. Labs included a white cell count of 9.3 K/µL, C reactive protein of 129 mg/L and erythrocyte sedimentation rate of 90 mm/hour. A CT scan demonstrated proximal tibia osteomyelitis with an intramedullary abscess, surrounding soft tissue abscesses and septic arthritis of the knee joint (figure 1).

Figure 1

(A) Permeative appearance of the proximal tibial metaphysis and diaphysis with areas of cortical lucency and endosteal scalloping, suspicious for osteomyelitis. (B) Intramedullary fluid collection within the proximal tibial metaphysis/epiphysis, containing hyperattenuating contents with two punctate foci of air measuring approximately 6.7x4.7x16.6 cm,...

https://ift.tt/2Nolq7u

Tubular adenomas of the breast: a rare diagnosis

Tubular adenomas of the breast are rare benign tumours and few cases have been reported. Most often, the tumours are described as palpable, well-circumscribed masses in women of childbearing age and are commonly diagnosed as fibroadenomas both clinically and radiographically. Surgical excision is required for diagnosis and to prevent continuing growth. Here, we present two cases of these rare tumours, both with unusual presentations. The first case describes a very large specimen (10 cm x 9.5 cm x 4 cm mass) with tubular adenoma pathology, which is one of the largest reported in medical literature. The second case illustrates another rare specimen, a mixture of both tubular adenoma and fibroadenoma pathology. We elected to document these cases to assist in the management of these rare lesions. Our hope is that this will allow future physicians to better identify and treat the pathology with improved outcomes for these patients.

https://ift.tt/2whui8m

Weeping Leg'

Description 

A 37-year-old daily wager from Uttar Pradesh in Northern India presented with multiple painless small nodules and granules discharging sinuses over the left leg. The lesions were uniformly distributed below the knee up to the ankle crease (figure 1). The skin was puckered and tethered to the underlying tissues. However, the foot and thigh of the involved limb and rest of the other limbs were absolutely symptom free. Radiographs showed erosion of the entire tibia and fibula with mixed sclerotic and osteolytic areas (figure 2, black arrows) along with sub tissue swelling and periosteal reactions (figure 2, white arrows). The culture of the grains  in Modified Sabouraud Agar media supplemented with 0.5% yeast extract revealed Madurella mycetomatis from its characteristic colony of fruiting bodies.

Figure 1

Clinical photograph of the left leg of the patient showing multiple discharging sinuses with...

https://ift.tt/2Nj3KKq

Documented vancomycin-induced severe immune-mediated thrombocytopaenia

A 69-year-old man developed Propionibacterium acnes left knee hardware infection after suffering from an infected ingrown toenail. The hardware was removed and he was treated with intravenous vancomycin. Ten days after initiation of vancomycin, he developed severe thrombocytopaenia, epistaxis and petechiae. Vancomycin was discontinued, and platelets rapidly recovered. Serum vancomycin IgG were positive. Patient completed a 6-week course of ceftriaxone with no further complications.

https://ift.tt/2wcPTPp

Opioid toxicity with underlying tumour lysis syndrome in a patient with CMML: a diagnostic and therapeutic challenge

Use of strong opioids like morphine as analgesics for painful conditions in haematological malignancies is a challenging task. We report a unique case of chronic myelomonocytic leukaemia presenting with opioid toxicity overlapping with tumour lysis syndrome. The patient was on hydroxyurea-based chemotherapy for the primary disease. She was receiving oral morphine for abdominal pain due to splenomegaly. She was brought to the emergency in unresponsive state with pinpoint pupils. Opioid overdose leading to unconsciousness was suspected as the first diagnosis. Further workup revealed a final diagnosis of tumour lysis syndrome overlapping with opioid overdose. The patient was ventilated and started on naloxone infusion, and supportive measures for managing tumour lysis were added. The patient gradually improved and was extubated on the fifth day of ventilation. This case presents several learning points for the treating physician. Haematological malignancies have a dynamic course of disease with waxing and waning tumour burden during the course of chemotherapy. This fact should be kept in mind when prescribing strong opioids like morphine on outpatient basis to these patients. Massive tumour cell lysis during the course of chemotherapy may precipitate tumour lysis syndrome and may lead to renal dysfunction which makes the patient susceptible to morphine-related adverse effects. Pain physician should keep a watch for therapy-related adverse effects to avoid diagnostic and therapeutic dilemma associated with coexisting features of these two fatal conditions.

https://ift.tt/2P9Nj3z

Novel microguidewire-assist (MGA) manoeuver for coil embolisation of an unruptured middle cerebral artery aneurysm

We describe here a novel yet very simple technique, called microguidewire-assist (MGA) manoeuvre, for coil embolisation of unruptured intracranial aneurysms. A 79-year-old woman with a small, broad-necked middle cerebral artery (MCA) bifurcation aneurysm that incorporated the orifice of the acute-angled M2 superior trunk underwent coil embolisation. Since the balloon assist technique was not feasible, we inserted and retained only the microguidewire through M1 to the M2 superior trunk; subsequently, with appropriate use of the microguidewire, coil embolisation was completed. The MGA manoeuvre resulted in slight vessel straightening and subsequent changes in the angulation of the aneurysmal neck, with which stable placement of the platinum coil was successfully accomplished. For coil embolisation of small, broad-necked MCA aneurysms that partially straddle the M2 trunk, this manoeuvre might provide an effective therapeutic alternative if other techniques are not feasible.

https://ift.tt/2wjzPv9

Short stature and growth hormone deficiency: unexpected manifestations of McCune-Albright syndrome

McCune-Albright syndrome (MAS) is a rare disease characterised by triad of monostotic or polyostotic fibrous dysplasia, café au-lait skin spots and a variety of endocrine disorders; precocious puberty (PP) being the most common presenting symptom in female patients. Hyperfunction endocrinopathies including hyperthyroidism, growth hormone excess and cortisol excess are typical presentations in MAS. We present a case of 21-year-old woman with clinical and radiological characteristics of MAS triad; she presented with short stature which was attributed to both growth hormone deficiency and PP. Growth hormone deficiency in MAS has not been reported in English medical literature.

https://ift.tt/2P89CXC

Cobb syndrome (cutaneomeningospinal angiomatosis)

Description 

A 62-year-old woman was referred to the orthopaedic oncology service for evaluation of a bleeding and enlarging soft tissue mass along the right anterior abdominal wall. She had a lifelong history of a cutaneous and subcutaneous vascular malformation, affecting the right lateral chest and right abdomen and extending proximally to involve the mid-thoracic spine. Her medical history was significant for a prior aborted attempted surgical resection of the vascular malformation in 1980 due to intraoperative bleeding. Her history also included L4–L5 laminectomy without fusion for lower extremity weakness without radicular symptoms in 1989 and coil embolisation of a T9 epidural fistula in 2011 to prevent any abnormal vascular flow. Examination of the bilateral lower extremity showed marked steppage gait with bilateral external rotation deformities and bilateral foot drop. Motor examination of the lower extremities revealed muscle power grading of 1/5 extensor hallucis longus bilaterally, 2/5 tibialis anterior...

https://ift.tt/2whue8C

Anti-AMPA receptor encephalitis associated with Medullary thyroid cancer

AMPA receptor (AMPAR) antibodies are a group of recently discovered antibodies which target the neuronal synaptic proteins causing B-cell (immune) mediated neuronal damage, resulting in various neurologic syndromes depending on the area of central nervous system involvement. These syndromes are mostly reversible if treated early. Tumour association has been reported in up to 60% of cases in the most recent case series with lung, breast, ovarian cancers and thymomas being the most commonly associated malignancies with these antibodies. We present here the first case of AMPAR encephalitis associated with medullary thyroid cancer. Our patient presented with cognitive dysfunction and behavioural changes over a period of 3 weeks, with a full recovery after starting immunotherapy, once the diagnosis of AMPAR limbic encephalitis was established. This case highlights the importance of early diagnosis and management of AMPAR encephalitis as these patients respond well to immunotherapy and can have an almost complete recovery.

https://ift.tt/2P8gnsc

Office-based surgery and patient outcomes

Purpose of review The purpose of this review is to provide an update on the current knowledge about patient safety and outcomes in the office-based setting. Ambulatory procedures performed outside the hospital are steadily increasing, resulting in an increasing number and complexity of office-based procedures and patient comorbidities over the past two decades. In this review we focus on most recent outcomes studies encompassing different surgical specialties and patient populations. Recent findings Rates of complications in the office-based surgical (OBS) setting from the latest publications are similar to, or better than previously reported studies. Many of the studies published were in the field of plastic surgery, with a few publications on office vascular and dental procedures. The most common complications were haematomas, infections and venous thromboembolisms (VTE)s and pulmonary emboli. Death was a rare finding, though when it occurred, it was often associated with VTE/pulmonary emboli and abdominoplasties. Summary Overall, these studies contribute positively to the safety of office-based anaesthesia. As an increasing number of procedures migrate from the hospital setting to ambulatory and office-based environments, it will be critically important to continue ensuring patients are well tolerated. Correspondence to Richard D. Urman, MD, MBA, Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA. Tel: +1 617 732 8222; e-mail: Rurman@bwh.harvard.edu Copyright © 2018 YEAR Wolters Kluwer Health, Inc. All rights reserved.

https://ift.tt/2MxJg4v