Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder.

Non-syndromic, multi-organ mitochondrial disorders (MIDs) are frequently missed if treating physicians are not aware of them. We report a 85 years old Caucasian male, referred for tonic-clonic seizures, presenting with a plethora of abnormalities, including neurodermitis, atopic dermatitis, diabetes, hypertension, renal insufficiency, non-specific colitis, urine bladder lithiasis, bilateral cataracts, atrial fibrillation, diverticulosis, polyneuropathy, vitamin-D-deficiency, renal cysts, left anterior hemi-block, right bundle branch block, pulmonary artery hypertension, and heart failure. Neurological investigations revealed ptosis, quadriparesis, fasciculations, dysarthria, dysdiadochokinesia, tremor, hyperkinesia, ataxia, leukoencephalopathy, and basal ganglia calcification. Based upon this combination of abnormalities a non-syndromic mitochondrial multi-organ disorder syndrome (MIMODS, encephalo-myo-cardiomyopathy) was diagnosed.

Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder / Síndrome mitocondrial no sindrómico con fallas de múltiples sistemas. Presentación de un caso

Non-syndromic, multi-organ mitochondrial disorders (MIDs) are frequently missed if treating physicians are not aware of them. We report a 85 years old Caucasian male, referred for tonic-clonic seizures, presenting with a plethora of abnormalities, including neurodermitis, atopic dermatitis, diabetes, hypertension, renal insufficiency, non-specific colitis, urine bladder lithiasis, bilateral cataracts, atrial fibrillation, diverticulosis, polyneuropathy, vitamin-D-deficiency, renal cysts, left anterior hemi-block, right bundle branch block, pulmonary artery hypertension, and heart failure. Neurological investigations revealed ptosis, quadriparesis, fasciculations, dysarthria, dysdiadochokinesia, tremor, hyperkinesia, ataxia, leukoencephalopathy, and basal ganglia calcification. Based upon this combination of abnormalities a non-syndromic mitochondrial multi-organ disorder syndrome (MIMODS, encephalo-myo-cardiomyopathy) was diagnosed.

Las alteraciones mitocondriales no sindrómicas y mutisistémicas pueden ser pasadas por alto si no se está consciente de su existencia. Presentamos un hombre de 85 años, referido por convulsiones tónico clónicas, que presentaba una plétora de anomalías tales como neurodermatitis, dermatitis atópica, diabetes, hipertensión, insuficiencia renal, colitis no específica, litiasis vesical, cataratas bilaterales, fibrilación auricular, diverticulosis, polineuropatía, deficiencia de vitamina D, quistes renales, hemibloqueo izquierdo anterior y bloqueo de rama derecha, hipertensión pulmonar e insuficiencia cardíaca. El estudio neurológico reveló la presencia de ptosis, cuadriparesia, fasciculaciones, disartria, disdiadocoquinesia, temblor, hiperquinesia, ataxia, leucoencefalopatía y calcificación de ganglios basales. Basados en estos hallazgos, se diagnosticó un síndrome mitocondrial no sindrómico con fallas de múltiples sistemas.

Fatal intracerebral bleeding under rivaroxaban.

Rivaroxaban is a factor-Xa-inhibitor which has been shown to be non-inferior to the vitamin-K-antagonist (VKA) warfarin in atrial fibrillation patients. In the manufacturer-sponsored trial, the rate of intracranial hemorrhage in rivaroxaban-treated patients was lower than in VKA-treated. It is unknown if this advantage of rivaroxaban is also present outside clinical trials. We report a patient with fatal cerebral bleeding 4months after initiation of rivaroxaban. Bleeding might be favored by hypertension, hypoalbuminemia, renal impairment, hepatopathy and drug-drug interactions of rivaroxaban with amiodarone and bisoprolol. Patients have to be monitored closely after initiation of rivaroxaban, especially if they are treated with possibly interacting drugs. Additionally, hepatic function, albumin level, and renal function have to be closely monitored. Therapy with VKA seems more convenient, safer and more favorable for the patient than rivaroxaban with its associated uncertainties concerning metabolization and drug-drug interactions and no possibility to reverse its activity in emergency situations.

Dilative Arteriopathy and Leucencephalopathy as Manifestations of a Neurometabolic Disease.

BACKGROUND: Dilative arteriopathy plus leucencephalopathy as a manifestation of a mitochondrial disorder (MID) is rare. CASE REPORT: In a 70yo Caucasian female, height 160cm, weight 62kg, with mild right-sided hemiparesis due to subacute ischemic stroke in the posterior leg of the left internal capsule, a megadolichobasilar artery and marked leucencephalopathy and gliosis of the pons were detected. In addition, microbleeds in a peripheral distribution at the cortical/subcortical border were noted. After the exclusion of various differentials, which could have explained her abnormalities, a MID was suspected. CONCLUSIONS: Dilative arteriopathy of the intra-cerebral arteries, in association with recurrent stroke and supra- and infratentorial leucencephalopathy, but the absence of neurofibromatosis or increased low-density lipoprotein values, is most likely attributable to a non-syndromic MID.

Traumatic fatal cerebral hemorrhage in an old patient with a history of multiple sclerosis under dabigatran: a case report and review of the literature.

One disadvantage of direct anticoagulant drug is the lack of an antidote, which may become relevant in patients with traumatic brain injury. A 77-years old man with atrial fibrillation and syncope received dabigatran despite recurrent falls. Due to a ground-level-fall, he suffered from subarachnoidal and intraparenchymal hemorrhages, subdural hematoma and brain edema with a midline shift. Despite osteoclastic trepanation and hematoma-evacuation he remained comatose and died seven days later without regaining consciousness. Most probably, decreased dabigatran clearance due to increased age might have contributed to the fatal course. We suggest withholding anticoagulant therapy in patients with unexplained falls. If anticoagulant therapy is deemed necessary, vitamin-K-antagonists with their potential for laboratory monitoring and reversal of anticoagulant activity should be preferred.

Fatal Cerebral Air Embolism Due to a Patent Foramen Ovale during Endoscopic Retrograde Cholangiopancreatography.

Fatal air embolism to the cerebrum during an endoscopic retrograde cholangiopancreatography (ERCP) has not been reported in a patient with a biliodigestive anastomosis and multiresistant extended-spectrum ß-lactamase Escherichia coli (ESBL) bacteremia. A 59-year-old woman with a history of laparoscopic cholecystectomy and iatrogenic injury of the right choledochal duct, choledochojejunostomy (biliodigestive anastomosis), recurrent cholangitis, revision of the biliodigestive anastomosis, recurrent liver abscesses, and recurrent stenting of stenotic bile ducts, was admitted because of fever and tenderness of the right upper quadrant. On ERCP, a previously deployed covered Wallstent was replaced. Blood cultures grew ESBL. After stent removal 8 days later, the patient did not wake up and developed arterial hypotension and respiratory insufficiency, requiring mechanical ventilation. Computed tomography scans showed extensive air embolism to the liver, heart, and cerebrum. She died 1 day later. Although the exact pathogenesis of the fatal cerebral air embolism remains speculative, the nonphysiological anatomy and chronic infection with ESBL may have been contributory factors.

Ischemic stroke and intestinal bleeding under dabigatran in metabolic myopathy.

OBJECTIVES: The subsequent occurrence of an ischemic thromboembolic event and a bleeding shortly after discontinuation of dabigatran has not been published. CASE REPORT: In an 89-year-old female with atrial fibrillation dabigatran had been started 11 days before admission, following a transitory ischemic attack. Phenprocoumon had been stopped 1 month earlier because of a hematoma after a fall. Although dabigatran was discontinued already on hospital day 1, she experienced an intestinal bleeding on hospital day three and an ischemic stroke on hospital day 6. As blood coagulation parameters were still abnormal on hospital day 2, intestinal bleeding was attributed to the prolonged antithrombotic effect or the interaction of dabigatran with the comedication. Stroke was attributed to the absence of a sufficient antithrombotic effect or a rebound effect 5 days after discontinuation of dabigatran. Clinical neurological examination additionally suggested a neuromuscular disorder. CONCLUSIONS: Ischemic stroke and intestinal bleeding may consecutively occur shortly after stopping dabigatran. Coagulation parameters may remain abnormal even 2 days after discontinuation of dabigatran. Dabigatran should be applied with caution in elderly patients with renal insufficiency who also take drugs, which enhance the absorption of dabigatran.

Lift the quilt in case of atrial fibrillation and disc prolapse.

BACKGROUND: Peripheral embolism to the lower extremities may mimic disc prolapse with severe consequences. CASE REPORT: A 71-year-old male with a history of chronic alcoholism developed low back pain radiating to both lower extremities in a nonradicular distribution and bilateral dysesthesias of the distal lower legs after lifting a heavy weight. Given that magnetic resonance imaging (MRI) of the lumbar spine showed disc herniation in L3/4 and L4/5, he was scheduled for laminectomy but was unable to undergo surgery due to thrombocytopenia. After transfer to another hospital, persistence of symptoms and signs, absent pulses on the distal lower legs, and rhabdomyolysis with temporary renal insufficiency, peripheral embolism with compartment syndrome was suspected. Magnetic resonance angiography revealed occlusion of the right superficial femoral artery and long high-grade stenosis of the left superficial and profound femoral arteries and distal arteries. He successfully underwent embolectomy and fasciotomy. CONCLUSIONS: If lumbar pain is not radicular, peripheral pulses are minimally palpable, and distal limbs are cold and show livid decolorization, peripheral embolism is much more likely than disc herniation, particularly if the patient's history is positive for atrial fibrillation. MRI of the lumbar spine must be interpreted in conjunction with clinical presentation.

Fatal septicemia in a patient with cerebral lymphoma and an Amplatzer septal occluder: a case report.

INTRODUCTION: The Amplatzer septal occluder is frequently used for percutaneous closure of an atrial septal defect. Complications include thrombosis and embolism, dislocation, cardiac perforation, and, rarely, infection. We report the case of a patient who had survived an occluder-related thromboembolism two years previously. CASE PRESENTATION: A 72-year-old Caucasian woman had received a septal occluder because of an atrial septal defect seven years ago. Two years ago, she underwent chemotherapy of a non-Hodgkin lymphoma, developed atrial fibrillation, and experienced a left-sided occluder thrombosis with stroke and peripheral embolism. Now, she presented with cerebral lymphoma, received glucocorticoids, and subsequently developed skin lesions. Swabs from the lesions and blood cultures were positive for methicillin-resistant Staphylococcus aureus and Pseudomonas aeruginosa. Endocarditis, however, was considered only two months later and echocardiography suggested aortic valve endocarditis. Despite antibiotic therapy, she died three days later because of septicemia, and no post-mortem investigation was carried out. It remains uncertain whether the septal occluder was endothelialized or infected and whether explantation might have changed the outcome. CONCLUSIONS: If infections occur in patients with a septal occluder, endocarditis should be considered and echocardiography should be performed early. To prevent a fatal outcome, explantation of the septal occluder should be considered, especially in patients with problems that suggest delayed endothelialization. Post-mortem investigations, including bacteriologic studies, should be carried out in patients with a septal occluder in order to assess the focal and global long-term effects of these devices.

Noncompaction in a HIV-positive with cortical blindness as initial manifestation of progressive multifocal leucencephalopathy.

OBJECTIVES: Though progressive multifocal leucencephalopathy (PML) may manifest with visual impairment, including bilateral visual loss as the presenting manifestation, in single patients, it has not been described in association with left ventricular hypertrabeculation/noncompaction (LVHT). CASE REPORT: A 37 years old HIV-positive Caucasian male developed visual impairment, which continuously progressed to near blindness within two weeks. He could differentiate bright and dark but was unable to count fingers, and there was bradydiadochokinesia. Ophthalmologic investigations exclusively revealed severe visual field defects bilaterally. Visually-evoked-potentials were absent bilaterally. MRI of the cerebrum revealed bilateral occipital, non-enhancing T2-hyperintensities, which extended towards the temporal lobe. On diffusion weighted imaging hyperintense areas were intermingled with hypointense areas. H-MR-spectroscopy disclosed an increased lactate peak, but reduced creatine, cholin, and N-acetyl-aspartate peaks. CSF-protein was slightly elevated, oligoclonal bands were positive, and PCR positive for the JC-virus. T-helper cells were markedly reduced. Cardiologic investigations revealed right bundle-branch-block, left ventricular wall thickening and LVHT in the left ventricular apex and the lateral wall. During follow-up visual acuity transiently improved but lastly deteriorated again despite a highly-active anti-retroviral therapy. CONCLUSIONS: This case shows that cortical blindness may be the initial clinical manifestation of PML and that isolated LVHT is not causally related to a HIV-infection but rather to a subclinical neuromuscular disorder.

Cardiac and cerebral air embolism from endoscopic retrograde cholangio-pancreatography.

Regional or systemic air embolism to the heart or cerebrum during endoscopic retrograde cholangio-pancreatography (ERCP) is an increasingly recognized phenomenon. This review aims to give an overview about the current knowledge concerning pathomechanism, diagnosis, treatment, and outcome of air embolism during ERCP. A Medline search was carried out for the key words 'ERCP' in combination with 'liver dysfunction', 'air embolism', 'complication', and 'side-effect'. Altogether 18 reports about 19 patients were found matching with the key words and the topic of interest. Systemic air embolism after ERCP occurred in 14 cases and was associated with cerebral air embolism in eight of them. In six cases with cerebral air embolism the outcome was fatal. Only two patients with cerebral air embolism survived, one of them without a deficit and one with hemiparesis. In only two cases, transgression of air from the venous to the arterial branch occurred through a patent foramen ovale. In none of the patients was transgression attributable to arterio-venous shunts within the lung or other tissues, the Thebesian veins, or insertion of the caval veins directly into the left atrium. In five patients, systemic air embolism occurred in the absence of a foramen ovale. In all these cases it was assumed that air entered the vasculature through the portal or hepatic veins. In conclusion, if patients do not awake after ERCP air embolism should be considered, an acute cerebral and thoracic computed tomography scan should be ordered, and appropriate measures, including aspiration of air from the right ventricle through an acutely floated pulmonary artery catheter or hyperbaric oxygenation initiated.