BMJ Case Reports最新文献

Metastatic breast cancer presenting with both cardiac tamponade and bilateral vocal cord paralysis is rare. We report a case of an elderly patient with breast cancer who had previously undergone right modified radical mastectomy and then presented with cardiac tamponade and recurrent laryngeal nerve paralysis as complications of the malignancy. She underwent right anterior thoracotomy, pleuropericardial window, left tube thoracostomy and tracheostomy under general anaesthesia. Anaesthetic goal was to secure a potentially difficult airway caused by reduced glottic dimensions secondary to bilateral vocal cord paralysis, while simultaneously maintaining preload, systemic vascular resistance and oxygenation, given the presence of cardiac tamponade. This case highlights a rare presentation of advanced breast cancer and emphasises the devastating implications of these conditions for patients, thus warranting further discussion on their anaesthetic management.

In India, congenital tuberculosis (TB) accounts for 1%-3% of the TB burden. We present the case of a term neonate admitted with respiratory distress, hepatosplenomegaly and abnormal coagulation profiles. The neonate's condition rapidly deteriorated, progressing to respiratory failure within 72 hours of admission. Tuberculosis-specific tests (TB PCR and culture) in the neonate confirmed the diagnosis of disseminated congenital TB. However, the results arrived after the neonate succumbed to multiorgan failure following a brief hospital stay. Maternal chest imaging after these results revealed miliary TB and she was started on anti-TB treatment. Despite the concerning signs, congenital TB was not initially suspected due to the absence of relevant maternal history and the overlapping features with other infections. As a result, the initial differentials considered were bacterial sepsis, perinatal viral infections and immunodeficiency. This case underscores the need for earlier suspicion of congenital TB, particularly in TB-endemic areas, to avoid adverse outcomes.

Hypokalemic periodic paralysis (HPP) is a channelopathy with a genetic predisposition which may occur in the presence or absence of hyperthyroidism. We present a unique case of severe HPP associated with both Grave's thyrotoxicosis and pemphigus vulgaris. The patient developed proximal limb weakness after treatment with rituximab. He then subsequently presented with witnessed ventricular fibrillation arrest. Cardiopulmonary resuscitation was initiated in the field and return of spontaneous circulation was achieved. His initial potassium was 1.9 mmol/L with a marked metabolic acidosis.

We report a case of a dichorionic diamniotic twin pregnancy where twin B was diagnosed with a large multi-loculated exophytic cystic neck mass arising from the right side with involvement of the right proximal upper limb and significant mass effect on the trachea diagnosed during antenatal MRI. After multidisciplinary discussion, an ex utero intrapartum treatment (EXIT) procedure was planned given concerns about airway obstruction in twin B. Successful EXIT was performed with the delivery of twin A first, followed by an intraoperative external cephalic version of twin B and subsequent delivery of the fetal head and intubation on maternal circulation.

A pregnant woman in her late 20s with a history of epilepsy since childhood presented with recurrent loss of consciousness and witnessed twitching and involuntary muscle contractions. She had hyperemesis during pregnancy reporting four previous miscarriages attributed to seizures. During evaluation in cardiac telemetry and while suffering from severe nausea, the patient experienced prolonged ventricular asystole resulting in convulsive syncope and was diagnosed with cardioinhibitory malignant vasovagal syncope (CMVS). Initiation of levetiracetam was recommended for 6 months, and after undergoing dual-chamber pacemaker placement, her neurological symptoms resolved despite persistent hyperemesis during the first trimester, leading to a successful vaginal delivery. 4 years later, the patient remains asymptomatic. This case emphasises the importance of conducting a thorough differential diagnosis in patients with atypical seizure presentations, the multidisciplinary approach required to assure optimal outcomes in cardio-obstetric cases and the role of selective pacemaker placement in patients with documented prolonged ventricular asystole associated with CMVS.

Ptosis and proximal weakness may develop in multiple diseases including oculopharyngeal muscular dystrophy (OPMD) and myasthenia gravis (MG). These two entities can be challenging to differentiate since they may have important clinical and neurophysiological overlap. Systemic lupus erythematosus (SLE), a common autoimmune disease, has been described in association with MG.We present a woman in her 60s with fluctuating bilateral ptosis and proximal muscle weakness. Single fibre electromyography showed increased jitter. Her brother has genetically proven OPMD. The investigation revealed a positive genetic test for OPMD and positive antibodies for acetylcholine receptor. Additionally, she has SLE, treated with hydroxychloroquine for more than 30 years.This case highlights the importance of a thoughtful anamnesis with personal and familial history and raises awareness for the rare coexistence of three pathologies with some common clinical characteristics but different treatments and management.

We report a case of a late adolescent female who presented to us with complaints of acute, painful loss of vision in her left eye. Her visual acuity (VA) had reduced to perception of hand movements within a week. Slit lamp examination and ultrasonography revealed that the patient had endophthalmitis. She was treated with intravitreal antibiotics, pars plana vitrectomy, lensectomy and a 5000 centistoke silicone oil injection. The vitreous biopsy showed significant growth of Rothia dentocariosa on blood and chocolate agars. An infected lower mandibular tooth was identified as the infective focus and treated. Systemic evaluation did not reveal any other infections. 1 month after the final procedure, she achieved a VA of 20/60 and IOP of 11 mm Hg. The retina was attached, and the infection had completely resolved. This case of atypical endogenous endophthalmitis was managed with timely surgery and using silicone oil injection and showed a good outcome.

Cryptic pregnancy was first described in the early 17th century and occurs when the pregnant person is unaware of their pregnant state and discovers this late in pregnancy or when labour starts. Historically, the term 'concealed pregnancy' has been used synonymously. In a concealed pregnancy, the patient is aware of their pregnancy but chooses to hide it. Cryptic pregnancies can be divided into psychotic or non-psychotic types (affective, pervasive or persistent); however, it can also occur without any clinical manifestation of a psychiatric disorder. Lack of antenatal care may result in adverse maternal and fetal outcomes such as pre-eclampsia, small for gestational age babies or untreated diabetes. The risk factors for pregnancy denial include young age, low level of education, a precarious work situation and being single. The psychological and developmental impact of pregnancy denial on children and mothers is still unknown. The authors present the case of a nulliparous woman with polycystic ovary syndrome (PCOS) in her early 40s presenting to the Emergency Department with abdominal pain and hypertension with proteinuria. Her body mass index (BMI) was 51.6 kg/m² Physical examination revealed a gravid uterus, and the woman was in labour. Further investigation with a transabdominal ultrasound scan confirmed a term fetus. She was unaware that she was pregnant. She was diagnosed with pre-eclampsia and commenced treatment with labetalol. The woman presented to primary care with non-specific symptoms of weight gain, lethargy, carpal tunnel syndrome and acid reflux over a 6-month period. Despite being sexually active and not using contraception, a pregnancy test was not offered. She was delivered of a live neonate by an emergency lower segment caesarean section at 9 cm dilatation. The neonate plotted on the 45.2nd centile. This case emphasises the need for doctors to request a pregnancy test in women of reproductive age who present with recurrent pregnancy-related symptoms irrespective of their BMI, history of PCOS or inability to conceive over a long period. This case also highlights the need for primary care and emergency physicians to be aware of the phenomenon of cryptic pregnancy. It also provides a cautionary reminder of having a high index of clinical suspicion to establish the diagnosis due to the paucity of cases in the literature.

Prolonged glucocorticoid overexposure leads to Cushing's syndrome (CS). It is characterised by diverse metabolic, cardiovascular and bone mineral manifestations. A middle-aged woman presented for a preoperative evaluation of a pathological fracture of the left neck of the femur. She had a history of a hip fracture on the opposite side 3 years back. She exhibited several features specific to CS and was subsequently diagnosed with Cushing's disease. She underwent transsphenoidal adenoma resection and achieved remission. Glucocorticoids primarily affect the trabecular bone compared with cortical bones, and vertebral fractures are common in CS. The femoral neck consists of both trabecular and cortical bone and can be involved in CS. Our patient was not diagnosed as CS at the first pathological fracture and was subsequently diagnosed only after the second fracture. This case report underscores the importance of a diligent search for a possible endocrinological aetiology in any case of pathological fractures.

Literature on haemophilia in the Philippines is sparse, especially in the neonatal group. This report showcases a newborn from a resource-limited country who was worked up for haemophilia after presenting with a strong family history and a large haematoma on his blood extraction site. Laboratory tests showed a normal platelet count, deranged coagulation parameters and severely decreased Factor VIII activity levels. Due to the unavailability of Factor VIII concentrate, the patient was transfused with fresh frozen plasma with no recurrence of bleeding and was discharged well. He was referred to haemophilia foundations for procurement of Factor VIII concentrates for emergency use. Subsequently, the patient presented with spontaneous left cheek swelling at 3 months old. Repeat coagulation parameters showed a twice elevated partial thromboplastin time and he was given Factor VIII concentrate at the emergency room. This report also discusses the challenges in the diagnosis and management of haemophilia in the Philippines.