Wernicke’s encephalopathy is a triad of ophthalmoplegia, ataxia and confusion seen in alcoholics with dietary vitamin B1 (thiamine) deficiency. A rare genetic defect of thiamine transporter-2 may lead to similar clinical features, biotin-thiamine responsive basal ganglia disease (BTBGD). A 15-year-old female developed rapid onset ptosis and ophthalmoplegia evolving into a subacute encephalopathy. Neuroimaging demonstrated symmetrical basal ganglia and midbrain lesions reminiscent of Leigh’s subacute necrotising encephalomyelopathy. Oral biotin and thiamine were commenced, and symptoms improved dramatically the next day. The therapeutic response suggested SLC19A3, encoding thiamine transporter-2, as a strong candidate gene and Sanger sequencing revealed a novel homozygous c.517A>G;p.Asn173Asp mutation, which segregated with disease within the family. BTBGD is a potentially treatable neurological disorder and should be considered in the differential diagnosis of Leigh syndrome and Wernicke’s encephalopathy. Since delayed treatment results in permanent neurological dysfunction or death, prompt diagnosis and early initiation of biotin and thiamine therapy are essential.
A man in his 60’s was admitted following a serious suicide attempt secondary to severe obsession with bowel movements and severe depression. He had multiple previous admissions with similar presentations and responded partially to psychotropic medications. It was transpired that obsessive compulsive disorder preceded depression and being overwhelmed with this obsession related to bowel movement, he decided to end his life. Electro-convulsive therapy was commenced with good results. His obsessive-compulsive disorder came under control to a greater extent and there was an improvement in his mood.
Tumour-to-tumour metastasis is a rare phenomenon, but has been described in the literature in just over 100 cases. It can be particularly puzzling for the reporting pathologists, when encountered unexpectedly in a tumour showing abrupt transition from the usual morphology to another unusual pattern. The literature reports a variety of combinations with carcinoma-to-carcinoma being the most common; and renal cell carcinomas appear to the most common recipient tumours with common donor tumours being breast, lung and renal cell carcinomas. The authors report a case of poorly-differentiated lung carcinoma metastasising into a carotid body paraganglioma. Our case is unique and in our knowledge the first described case of carotid body paraganglioma with metastasis from a lung primary. To the best of our knowledge this is the first report of this interesting biological phenomenon in this combination.
A previously fit and well 40-year-old man presented to the emergency department with palpitations after suffering an 11 000 volt electrical shock from overhead power cables through a mobile crane which he was operating. His ECG demonstrated the presence of new atrial fibrillation at a rate of 80 beats per min. He was haemodynamically stable, and had otherwise only sustained a small exit burn to his left great toe. Routine blood tests including creatine kinase and troponin T were normal. A bolus of intravenous flecainide failed to restore sinus rhythm, but an amiodarone infusion was successful. An electrical shock is a rare cause of atrial fibrillation. There is no consensus over optimal medical management. Numerous treatment plans have been previously employed with varying degrees of success.
Tension pneumothorax complicating a pneumoperitoneum is a rare but known entity. However, all previously published articles report an air leak through defects in the diaphragm connecting the pneumoperitoneum and the pneumothorax. Here, the case of a 36-year-old man in whom the pneumoperitoneum acted like a tension pneumothorax because of a congenital eventration of the left diaphragm without penetration is presented. Emergency needle decompression of the abdomen was performed. A gastric ulcer that had passed through the diaphragm to the right lung was diagnosed intraoperatively. Unfortunately, the patient developed a ventricular fibrillation that remained resistant to all resuscitative efforts, and the patient died shortly afterwards.
Painless obstructive jaundice is often associated with a malignant disease of the common bile duct or head of the pancreas. The authors present a unique case of a 62-year-old woman affected by an intrahepatic cystadenoma that extended into the common biliary duct. To our knowledge no previous case reports have been published on similar cases. After undergoing an en-block hepatic and bile duct resection, this patient is doing well without signs of recurrent disease.
The authors present the case of a 72-year-old patient who presented with severe dyspnoea, scant haemoptysis, pronounced desaturation and bilateral haematomas on the upper limbs. Chest radiography showed bilateral infiltrates mainly in the lower lobes. The patient’s prothrombin time, and platelet count were normal. However, the activated partial thromboplastin time showed a prolongation that was not reversed on a correction study. Factor VIII (FVIII) levels were very low and evidence of FVIII inhibitor was found. The patient had started taking ivabradine 2 months earlier, and the diagnosis of idiosyncratic acquired haemophilia was established. The patient was treated with volume expansion therapy, high levels of oxygen, multiple transfusions, methylprednisolone, desmopressine and rituximab. On the 3rd day, the patient showed progressive amelioration of his dyspnoea, oxygen needs and chest infiltrates. On the 7th day, the patient was discharged.
An elderly lady was admitted for pain management and rehabilitation following a fall. During her stay she developed a new heart murmur and sepsis. Subacute bacterial endocarditits was excluded, empirical ciprofloxacin was initiated and later converted to aztreonam with gentamicin for clinical deterioration. Subsequent investigations revealed meningococcal Y septicaemia secondary to pneumonia, with a possible oropharynx focus. Upon discharge she had returned to baseline state. The case reflects an unusual and increasing cause of pneumonia. A steady increase of infective serogroup Y isolates over the past 12-years in England, with tendency towards elderly makes it a significant differential among the general medical population. This trend corresponds with the US, but is yet unknown whether to be a periodic cycle or true change in dominance and, or, virulence among serogroups. If the latter were true, it would support the inclusion of serogroups beyond menigitides C in the vaccination program.