BMJ Case Reports最新文献

A man in his early 50s presented with mechanical chronic pain and limitation of the active range of motion of the right shoulder. Imaging of the shoulder showed osteophytosis without joint space narrowing or cranial migration of the humeral head. He reported no history of trauma, dislocation arthropathy, clinical or standard biological evidence for septic or inflammatory arthritis, metabolic, haemophilic or endocrine-associated arthropathies. The second medical consultation revealed enlargement and infiltration of hands and feet. Consequently, we suspected acromegaly, which was confirmed by endocrinological diagnosis. Further, an MRI of the pituitary gland showed a sellar tumour. The patient's shoulder pain was related to undiagnosed acromegalic arthropathy leading to osteoarthritis and was treated by trans-sphenoidal exeresis of the somatotroph adenoma and a somatostatin analogue. In conclusion, acromegaly should be considered in patients with centred glenohumeral osteoarthritis, as an early diagnosis is essential to limit complications and preserve the quality of life.

A woman in her early 50s presented with diminution of vision, photophobia, pain and watering in right eye for 8 months. She had previously undergone radial keratotomy (RK) in the right eye, followed by bilateral angle-supported phakic intraocular lens (pIOL) implantation. On examination, 16 RK incisions were present in the right eye, with corneal decompensation, rigid angle-supported pIOL in situ, senile cataract and uncorrected distance visual acuity (UDVA) of counting fingers. Three major challenges were accurate biometry, incision management during phacoemulsification with rigid pIOL in situ and keratoplasty in the presence of RK incisions. Swept source optical coherence tomography-based optical biometer and Barrett Universal II formula were used for intraocular lens (IOL) power calculation. First-stage phacoemulsification was performed with pIOL in situ, followed by IOL implantation and pIOL explant via the same incision. Second-stage Descemet stripping automated endothelial keratoplasty (DSAEK) was performed after 1 week; DSAEK prevented splicing of RK incisions. Postoperative UDVA was 20/200, improving to 20/60 with semiscleral contact lens.

Peritoneal tuberculosis (TB) is a rare extrapulmonary infection caused by Mycobacterium tuberculosis It is mainly found in countries with a high burden of TB, so travelling from an endemic area should raise suspicion. Although it is a well-recognised disease, it remains a challenge due to its difficult clinical and microbiological diagnosis. This can lead to a delay, both in diagnosis and treatment with serious prognostic implications. We describe the case of a woman in her mid-50s who presented with fever, abdominal pain, vomiting, breathlessness, anorexia and weight loss. On physical examination, she had decreased breath sounds at the right lung and clinical ascites. Blood tests revealed elevated inflammatory markers and anaemia. Imaging showed ascites, enhanced peritoneal thickening, densification of the mesenteric fat and right pleural effusion. After paracentesis, diagnostic thoracotomy and laparoscopy were undertaken. Based on a presumptive diagnosis, treatment was started. M. tuberculosis was lastly isolated in ascitic fluid culture after 6 weeks. The patient completed a 6-month course of anti-TB drugs with a favourable outcome.

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.