Chaneyglass6683

X-linked creatine transporter deficiency is caused by the deficiency of the creatine transporter encoded by the SLC6A8 gene on Xq28. We here report a 3-year-old boy with global developmental delay, autism and epilepsy. He had a normal MRI of the brain. Brain magnetic resonance spectroscopy (MRS) subsequently showed an abnormally small creatine peak. His high urine creatine/creatinine ratio further suggested the diagnosis, later confirmed by hemizygous mutation detected in the SLC6A8 gene. His mother was also heterozygous for the same mutation. Supplementation with creatine monohydrate, arginine, and glycine (precursors of creatine) and supportive therapies, resulted in modest clinical improvement after 12 months. This case highlights the importance of doing MRS for boys with global delay/intellectual disability, autism and epilepsy even with a normal MRI of the brain, to pick up a potentially treatable cause.Acquired cerebellar ataxia is a rare, in many cases immune-modulated and paraneoplastic illness. Acute and slowly progredient processes are possible. An early treatment is important for a good clinical outcome. Here we present the case of female patient in her 60s with an antirecoverin associated cerebellitis without retinopathia and neoplasia. After an immunosuppressive therapy with steroids and rituximab the symptoms improved, and the progression could be stopped.Renal biopsy is usually a prerequisite in the diagnosis of adult patients with nephrotic syndrome. Acute Budd Chiari syndrome is a known complication of certain aetiologies of nephrotic syndrome like membranous glomerulopathy and minimal change disease. This complication requires emergent anticoagulation, which would preclude the performance of a renal biopsy. We report the case of a 47-year-old woman who presented with acute Budd Chiari syndrome as the initial presentation of nephrotic syndrome. The difficult situation in which we had to give anticoagulation and also perform a renal biopsy led us to devise a novel way to treat the patient, namely, the initial use of transfemoral thrombolysis and thrombosuction followed by a renal biopsy, which confirmed the diagnosis of primary membranous nephropathy. Anticoagulation was safely instituted 48 hours later with documented clinical and radiological improvement.A 2-month-old full-term female infant with medical history of situs inversus totalis presented to the emergency department with congestion and abnormal breathing. She was discovered to have failure to thrive (FTT) and subsequently admitted. Investigations revealed a large vallecular mass at the base of her tongue which was noted to cause severe, intermittent airway obstruction. The mass underwent marsupialisation by otolaryngology (ENT) and pathology confirmed a diagnosis of vallecular cyst. The patient made a full recovery and is now growing and thriving. This case emphasises the need to consider anatomic airway abnormalities in the differential diagnosis of young infants with the constellation of respiratory symptoms and FTT. Such airway abnormalities can cause life-threatening airway obstruction if not discovered.Metronidazole is a nitroimidazole antibiotic used in treating anaerobic bacteria and protozoal infections. It was first licensed for the treatment of Trichomonas vaginalis but is now used in the management of various gastrointestinal and genitourinary infections. Many neurological side effects are well documented, although there is scarce literature illustrating optic neuropathy secondary to metronidazole. We describe a case report of a 36-year-old man who presented with symptomatically reduced central visual loss on a background of a 2-year history of metronidazole use for a perianal fistula. Electrophysiology demonstrated bilateral optic neuropathy, with pattern visual evoked potential traces demonstrating marked latency and small amplitude responses of the P100 waves, which improved to within normal limits on cessation of metronidazole. This case study demonstrates clinical and electrophysiological reversibility of optic neuropathy secondary to high dose and prolonged metronidazole use.A 55-year-old male presented to our emergency department with haematuria and abdominal pain. Investigations including a computed tomography (CT) scan revealed an intraluminal filling defect within the left collecting system, consistent in appearance with blood clot. With an initial working diagnosis of upper tract urothelial cell carcinoma, he was discharged with plans for an urgent cystoscopy and ureteroscopy. Glycyrrhizin in vitro He subsequently represented with ongoing frank haematuria, anasarca, dropping haemoglobin and new right collecting system blood clot. Subsequent investigations showed that the patient had acquired haemophilia A resulting in the episodes of haematuria, highlighted after an elevated activated partial thromboplastic time prompted a thrombophilia screen. The patient was subsequently treated with factor eight inhibitor bypass activity, corticosteroids and cyclophosphamide.A patient suffering from a cerebrovascular ischaemic stroke may present similar symptoms to a patient with a chronic subdural haematoma (CSDH). Head CT imaging of an old extensive hemispheric infarction may appear hypodense in a similar fashion as CSDH. We described a 46-year-old man with a 2-week history of mild headache and worsening right lower extremity hemiparesis. Eight years prior, he suffered a left middle cerebral artery territory infarct. The head CT scan showed a huge, slightly hypodense area on the left brain, causing a significant mass effect. A new stroke was of concern versus a chronic subdural haematoma inside the old encephalomalacia stroke cavity. Only three previously reported cases of CSDH occupying an encephalomalacic cavity had been reported. This rare presentation should be considered in the differential diagnosis in patients with a history of cerebrovascular stroke. MRI is useful in making a correct diagnosis.Gastrointestinal pathology can cause cardiac symptoms and disorders. We present a case of a patient who had worsening of her palpitations with food intake. She was found to have a high burden of premature ventricular contractions in the setting of hiatal hernia and gastro-oesophageal reflux disease. After extensive investigations and ruling out cardiac causes, her arrhythmia resolved with the surgical correction of hiatal hernia.