Fatal hepatic failure and pontine and extrapontine myelinolysis in XMEA.
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ABSTRACT:
SUBMITTER: Ackerley CA
PROVIDER: S-EPMC5047040 | biostudies-literature | 2016 Sep
REPOSITORIES: biostudies-literature
Publications
Fatal hepatic failure and pontine and extrapontine myelinolysis in XMEA.
Ackerley Cameron A CA Cooper Mary Anne MA Munoz David G DG Minassian Berge A BA
Neurology 20160826 13
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Project description: Not available
| S-EPMC7111564 | biostudies-literature
Project description:IntroductionCentral pontine myelinolysis (CPM) is an acquired demyelinating lesion of the basis pontis that typically occurs after rapid correction of hyponatremia. There are only a few reported cases of patients without symptoms that have demonstrated CPM on imaging.Case presentationWe report the case of a 26-year-old Hispanic male with history of alcohol abuse who was transferred to our medical center for acute onset diffuse abdominal pain. During his work up, a computed tomography scan demonstrated a large pancreatic mass. He underwent an endoscopic guided biopsy which demonstrated a rare and aggressive natural killer T cell lymphoma. His laboratory values were consistent with hyponatremia, which the medical team gently corrected. An MRI was performed for staging purposes which revealed findings consistent with CPM. A full neurological exam demonstrated no deficits.Materials and methodsWE CONDUCTED A PUBMED SEARCH USING THE FOLLOWING KEYWORDS: asymptomatic, central, pontine, and myelinolysis in order to find other case reports of asymptomatic CPM.ResultsOf the 29 results, only 6 previous case reports with English language abstracts of asymptomatic CPM were present since 1995.ConclusionDespite slow correction of hyponatremia, CPM can be an important consequence, especially in patients with chronic alcoholism. Although this patient did not demonstrate any neurological deficits, the fact that there were changes seen on MRI should caution physicians in aggressively treating hyponatremia. Furthermore, if there is a decision to treat, then fluid restriction and reversal of precipitating factors (i.e. diuretics) should be used initially, unless there is concern for hypovolemia.
| S-EPMC3506049 | biostudies-literature
Project description:ObjectiveTo characterize clinical and radiologic features of patients with central pontine myelinolysis (CPM) and identify variables that predict outcome.Patients and methodsWe retrospectively studied patients diagnosed as having CPM identified by a search of Mayo Clinic medical records from January 1, 1999, through December 31, 2010. Diagnosis was made by clinical and radiologic features. Favorable outcome was defined by a modified Rankin Scale score of 2 or lower. Volume of signal abnormality on brain magnetic resonance imaging (MRI) was quantified by a neuroradiologist blinded to outcomes. Wilcoxon rank sum tests were used to assess association between volume of signal abnormality and outcomes at discharge and last follow-up.ResultsOf 24 patients, 14 (58%) had only CPM, and 10 (42%) had extrapontine involvement. Hyponatremia was documented in 18 patients (75%), with median sodium nadir of 114 mmol/L. Eighteen patients (75%) had alcoholism, and malnutrition was documented in 12 (50%). Presenting symptoms included encephalopathy (n=18 [75%]), ataxia (n=11 [46%]), dysarthria (n=7 [29%]), eye movement abnormalities (n=6 [25%]), and seizures (n=5 [21%]). Favorable outcome was seen in 15 patients (63%) at last follow-up. Findings on initial brain MRI were normal in 5 patients, but all MRI scans were abnormal with serial imaging. The volume of radiologic signal abnormality was not associated with outcome at discharge or last follow-up (P=.67 and P=.37, respectively).ConclusionClinical outcome in patients with CPM is not predicted by the volume of radiologic T2 signal abnormality on MRI or the severity of hyponatremia. Serial brain imaging is of value because a substantial proportion of patients have normal findings on initial MRI.
| S-EPMC3202996 | biostudies-literature
Project description:ObjectiveCentral pontine myelinolysis (CPM) is a rare demyelinating disease that affects the pons and which can cause extreme disabilities such as locked-in syndrome (LIS) in the initial phase. The aim of the study was to describe the evolution over a 12-month period of two patients with CPM causing an initial LIS.MethodWe retrospectively report the unexpected clinical outcome of these two patients in relation with the anatomical damages documented by brain MRI, associated with diffusion tensor imaging and reconstruction of corticospinal tracts in tractography. The following clinical parameters systematically assessed at 3, 6, 9, and 12 months: muscle testing on 12 key muscles (Medical Research Council), prehension metrics (box and block test and purdue pegboard), and independence for acts of daily living (functional independence measure).ResultsBoth patients showed a progressive recovery beginning between 2 and 3 months after the onset of symptoms, leading to almost complete autonomy at 12 months (FIM > 110), with motor strength greater than 4/5 in all joint segments (MRC > 50/60). On brain MRI with tractography, CST appeared partially preserved at pons level.InterpretationThe possibility of a near-complete functional recovery at 12 months is important to consider given the ethical issues at stake and the discussions about limiting care that may take place initially. It seems to be the consequence of reversible myelin damage combined with partially preserved neurons. Development of collateral pathways or resolution of conduction block may explain this recovery. MRI comprising DTI and tractography could play a key role in the prognosis of motor recovery.
| S-EPMC10963307 | biostudies-literature
Project description:IntroductionCentral pontine myelinolysis is a type of osmotic demyelination syndrome, which involves damage to parts of brain most commonly pons. The most common causes include rapid correction of hyponatremia but other precipitating factors including alcoholism, diabetes, and chronic liver disease should also be considered.Case presentationWe present a case of 44-year-old male with a history of chronic alcohol consumption, who presented in emergency room with complaints of slurring of speech and weakness of both upper and lower limbs. His MRI brain reveals 'trident-shaped' appearance with findings of High T2W/FLAIR signal noted in the pons with relative sparing of the periphery and hypo intense on T1W images. He was managed conservatively.Clinical discussionProper diagnosis with MRI is needed for early detection so that proper intervention can be made on time.ConclusionCPM can occur in the patient even if they are normonatremic or hyponatremic but can precipitate in Chronic Alcoholic patients.
| S-EPMC9108878 | biostudies-literature
Project description: Not available
| S-EPMC6353359 | biostudies-literature
Project description:BackgroundUnproven stem cell treatments may involve serious health, personal, and financial considerations. Due to worldwide spread, illegal stem cell therapies have become a major public health problem. We have already witnessed numerous reports in the mass media of severe and occasionally even fatal outcomes after such therapies. However, there are only few scientifically documented cases in which the causality between stem cell therapy and side effects cannot be refuted.Case presentationHere we present a case report of a 48-year-old patient with serious side effects, including disseminated skin ulcers, hepatitis, and cardiomyopathy, with eventual fatal outcome following unproven stem cell treatment.ConclusionsThe case of the patient presented here draws attention to the worst possible outcome of stem cell tourism. To effectively combat this issue, professionals and patients should be empowered with the right knowledge on possible side effects.
| S-EPMC7796809 | biostudies-literature
Project description:Schistosoma japonicum, once endemic all the East Asia, remains as a serious public health problem in certain regions. Ectopic egg embryonation in the liver causes granulomatosis and eventually fatal cirrhosis, so that prevention of this process is one of the keys to reduce its mortality. The embryonation requires cholesteryl ester from HDL of the host blood for egg yolk formation, and this reaction is impaired from the abnormal large HDL in genetic cholesteryl ester transfer protein (CETP) deficiency. When CETP was expressed in mice that otherwise lack this protein, granulomatosis of the liver was shown increased compared to the wild type upon infection of Schistosoma japonicum. The CETP deficiencies accumulated exclusively in East Asia, from Indochina to Siberia, so that Shistosomiasis can be a screening factor for this accumulation. CD36 related protein (CD36RP) was identified as a protein for this reaction, cloned from the cDNA library of Schistosoma japonicum with 1880-bp encoding 506 amino acids. The antibody against the extracellular loop of CD36RP inhibited cholesteryl ester uptake from HDL and suppressed egg embryonation in culture. Therefore, inhibition of CETP is a potential approach to prevent liver granulomatosis and thereby fatal liver cirrhosis in the infection of Schistosoma japonicum.
| S-EPMC4449486 | biostudies-literature
Project description:Fatal hepatic sarcocystosis was diagnosed as the cause of death in four pinnipeds: two captive Hawaiian monk seals (Monachus schauinslandi), a captive, and a free-ranging California sea lion (Zalophus californianus). Based on necropsy, histopathology, electron microscopy and DNA sequencing, intralesional protozoal schizonts were determined to have caused the necrotizing hepatitis observed. Transmission Electron Microscopy (TEM) revealed schizonts similar to Sarcocystis canis in hepatocytes. PCR-DNA sequencing and phylogenetic analysis at the conserved 18S rRNA and variable ITS1 gene markers within the nuclear rRNA gene array from schizont-laden tissue established that the parasites were indistinguishable from Sarcocystis canis at the 18S rRNA locus. However, six distinct single nucleotide polymorphisms (SNPs) were resolved at ITS1 suggesting that the parasites infecting pinnipeds were distinct from S. canis, which commonly infects bears and dogs. We hypothesize that the parasite represents a novel Sarcocystis variant that we refer to as S. canis-like that infects pinnipeds. The definitive host of S. canis is enigmatic and its life cycle incomplete. These findings document a critical need to identify the life cycle(s), definitive host(s), and all susceptible marine and terrestrial intermediate hosts of S. canis and the S. canis-like variant infecting pinnipeds.
| S-EPMC10696305 | biostudies-literature
Project description:Coenzyme Q10 deficiency is a clinically and genetically heterogeneous disorder, with manifestations that may range from fatal neonatal multisystem failure, to adult-onset encephalopathy. We report a patient who presented at birth with severe lactic acidosis, proteinuria, dicarboxylic aciduria, and hepatic insufficiency. She also had dilation of left ventricle on echocardiography. Her neurological condition rapidly worsened and despite aggressive care she died at 23 h of life. Muscle histology displayed lipid accumulation. Electron microscopy showed markedly swollen mitochondria with fragmented cristae. Respiratory-chain enzymatic assays showed a reduction of combined activities of complex I+III and II+III with normal activities of isolated complexes. The defect was confirmed in fibroblasts, where it could be rescued by supplementing the culture medium with 10 μM coenzyme Q10. Coenzyme Q10 levels were reduced (28% of controls) in these cells. We performed exome sequencing and focused the analysis on genes involved in coenzyme Q10 biosynthesis. The patient harbored a homozygous c.545T>G, p.(Met182Arg) alteration in COQ2, which was validated by functional complementation in yeast. In this case the biochemical and morphological features were essential to direct the genetic diagnosis. The parents had another pregnancy after the biochemical diagnosis was established, but before the identification of the genetic defect. Because of the potentially high recurrence risk, and given the importance of early CoQ10 supplementation, we decided to treat with CoQ10 the newborn child pending the results of the biochemical assays. Clinicians should consider a similar management in siblings of patients with CoQ10 deficiency without a genetic diagnosis.
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