Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0243026 (sepsis)
 52,417 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In this report, we describe a brother and sister who presented at birth with short-limb skeletal dysplasia, polyhydramnios, prematurity, and generalized edema. Dysmorphic features included broad nose, thick ears, thin lips, micrognathia, inverted nipples, ulnar deviation at the wrists, spatulate fingers, fifth finger camptodactyly, nail hypoplasia, and talipes equinovarus. Other features included short stature, microcephaly, psychomotor retardation, B-cell lymphopenic hypogammaglobulinemia, sensorineural deafness, retinal detachment and blindness, intestinal malrotation with poor gastrointestinal motility, persistent hyponatremia, intermittent hypoglycemia, and thrombocytopenia. Cardiac anomalies included PDA, VSD, hypertrophic cardiomyopathy, and arrhythmias. The brother had a small penis with hypospadias, hypoplastic scrotum, and non-palpable testes. Skeletal findings included absent ossification of cervical vertebral bodies, pubic bones, knee epiphyses, and tali. Both sibs died before age 2 years, one of overwhelming sepsis and the other of cardiorespiratory failure associated with her cardiomyopathy. Metabolic studies showed a type 1 pattern of abnormal serum transferrin glycosylation. Fibroblasts synthesized truncated LLOs, primarily Man(7)GlcNAc(2), suggestive of CDG-Ig. Both sibs were compound heterozygotes for a novel 301 G > A (G101R) mutation and a previously described 437 G > A (R146Q) mutation in ALG12. Congenital disorders of glycosylation should be considered for children with undiagnosed multi-system disease including neurodevelopmental delay, skeletal dysplasia, immune deficiency, male genital hypoplasia, and cardiomyopathy.
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PMID:Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. 1750 7

The rate of symptomatic improvement of visual symptoms associated with hematogenous metastases to the sella and pituitary was evaluated retrospectively in seven patients (five men, two women; mean age, 52.3 years) with primarily visual symptoms (diplopia alone in three, diplopia with blurred vision in one, blurred vision alone in one, loss of peripheral vision in one, and unilateral complete blindness in one). Symptom duration ranged from 0.5 to 2 months. The primary diseases were non-small cell lung cancer in two patients, renal cell carcinoma in two patients, prostate cancer in two patients, and medullary thyroid carcinoma in one patient. All patients had widespread metastatic disease. Three patients had a suprasellar tumoral component. One patient had a clival extension, and one patient had extension into the cavernous sinus. All underwent trans-sphenoidal surgery to correct visual symptoms. Gross total resection was achieved in three patients. Subtotal resections and a partial resection were performed in three patients and one patient, respectively. Surgical blood loss averaged 282 mL. One patient died from sepsis. Five patients developed complications (cerebrospinal fluid leakage in three, diabetes insipidus in two, anterior pituitary dysfunction in two, and colitis in one). At a mean follow-up of 15 months, three patients were alive. Visual symptoms improved in five patients and were unchanged in two. Trans-sphenoidal surgery helped improve visual symptoms in most patients. The morbidity rate was high and likely related to the locally destructive and extensive nature of the lesions in overall morbid patients with widespread metastatic disease. Unless nonoperative measures can provide equal results, however, this approach provides reasonable palliation.
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PMID:Efficacy of Trans-septal Trans-sphenoidal Surgery in Correcting Visual Symptoms Caused by Hematogenous Metastases to the Sella and Pituitary Gland. 1876 52

We report on a case of sepsis-associated irreversible blindness in a patient after transrectal rebiopsy of the prostate. The patient was on immunosuppressive and long-term antibiotic treatment. Such a severe complication after transrectal biopsy of the prostate is unusual. Peri-interventional antibiotic prophylaxis reduces the general risk for infections after needle biopsy of the prostate. To avoid severe complications, suitable antibiotic prophylaxis in high-risk patients is recommended.
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PMID:[Blindness after prostate biopsy]. 1903 22

A 15-year-old boy with AML develops a fulminant candida krusei sepsis complicated by acute blindness due to enophthalmitis and subsequent bleeding during prolonged pancytopenia after induction therapy. Despite a low dose prophylaxis with oral nystatine and i. v. amphotericin B (ampho B) three times a week (0.8 mg/kg). Under an early intensified therapy with ampho B (1.5 mg/kg/d) combined with 5-flucytosin (160 mg/kg/d)the sepsis could be controlled and visual acuity slowly improved. A vitrectomy is due to the bleeding unavoidable. Despite a therapy delay of 4 weeks and omission of two cycles of the intensification treatment the patient is in continuous complete remission for longer than 10 years after diagnosis. If it is within the treatment protocols manageable to detect patients with increased sensitivity against cytostatic drugs and correspondingly highly sensitive leukemic cells, such complications could be avoided due to primary treatment adaptation.
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PMID:Long time survival after reduced chemotherapy ina 15-year-old patient with AML and Candida krusei sepsis and eye involvement. 1989 Jul 93

Pyogenic liver abscess (PLA) is still associated with significant morbidity and mortality. With advances in imaging, most cases are now diagnosed early and effectively treated. However, complications, although considered rare, may still occur. We report three cases of PLA that were associated with rare and significant complications. Two patients had an abscess rupture that resulted in pyopericardium in one patient and sub-diaphragmatic abscess in the other. Another patient with Klebsiella pneumoniae PLA had bilateral endophthalmitis that resulted in blindness. Death secondary to overwhelming sepsis occurred in the patient with Escherichia coli-related pyopericardium. Delay in diagnosis contributed to the complications in two of the patients.
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PMID:Rare complications of pyogenic liver abscess. 2110 6

Transient cortical blindness (TCB) is a well known but rare complication of administration of contrast agent. In this case report, we present a 53-year-old woman who is a follow-up case of sarcoidosis and developed TCB with focal neurological symptoms following contrast-enhanced computed tomography scan. Magnetic resonance imaging revealed bilateral T2/Flair hyperintensities in parieto-occipital, high frontal, and cerebellar hemispheres with involvement of corpus callosum. Clinically and radiologically patient improved significantly in 4 days. The exact mechanism is still speculative and its possible relationship with posterior reversible encephalopathy syndrome is briefly discussed. The patient's symptoms were presumed to be exacerbated by presence of hypertension, underlying autoimmune disorder, sepsis, and high osmolality of contrast agent. Though there is no definite evidence to suggest that a certain treatment regimen improves the natural history of this disease but control of risk factors can possibly prevent this rare but devastating complication.
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PMID:Cortical blindness after contrast-enhanced CT scan in a patient of sarcoidosis - Is it related to posterior reversible encephalopathy syndrome? 2234 22

Posterior reversible encephalopathy syndrome (PRES) is a clinical and radiological entity. It associates, to varying extents, neurological symptoms such as headaches, confusion, seizures and visual alterations from haemianopsia to cortical blindness. The diagnosis relies on brain MRI, showing signs of subcortical and cortical oedema in the posterior regions of the brain, with hypersignals in T2/fluid attenuated inversion recovery (FLAIR) or diffusion sequences. With early diagnosis and control of the causal factors, the symptoms and radiological signs can be - as the name implies - totally regressive. PRES can be caused by various heterogeneous factors, such as hypertension, side effect of drug therapies, eclampsia, sepsis or autoimmune diseases. The authors report here the case of an 86-year-old woman, presenting totally regressive cortical blindness and seizures, with compatible imaging.
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PMID:Cortical blindness and posterior reversible encephalopathy syndrome in an older patient. 2266 15

This study illustrates the case of a middle-aged woman who presented with sepsis and purpura fulminans, found to be due to Streptococcus pneumoniae infection. She later developed blindness from a dramatic ocular inflammatory response provoked by pneumococcal antigens.
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PMID:Reversible blindness: severe pneumococcal induced uveitis following septicaemia. 2269 94

Autosomal recessive osteopetrosis (ARO, MIM 259700) is a genetically heterogeneous rare skeletal disorder characterized by failure of osteoclast resorption leading to pathologically increased bone density, bone marrow failure, and fractures. In the neuronopathic form neurological complications are especially severe and progressive. An early identification of the underlying genetic defect is imperative for assessment of prognosis and treatment by hematopoietic stem cell transplantation. Here we describe for the first time homozygous microdeletions of different sizes affecting the OSTM1 gene in two unrelated consanguineous families with children suffering from neuronopathic infantile malignant osteopetrosis. Patients showed an exceptionally severe phenotype with variable CNS malformations, seizures, blindness, and deafness. Multi-organ failure due to sepsis led to early death between six weeks and five months of age in spite of intensive care treatment. Analysis of the breakpoints revealed different mechanisms underlying both rearrangements. Microdeletions seem to represent a considerable portion of OSTM1 mutations and should therefore be included in a sufficient diagnostic screening.
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PMID:Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1. 2368 43

Neisseria meningitidis is a major cause of childhood morbidity and mortality worldwide. We describe an exceptional case of an immunocompetent 15-month-old child presenting with a unilateral anterior uveitis, hypopyon, and sepsis. Anterior chamber aspirate demonstrated gram-negative cocci before Neisseria meningitidis was identified in blood and cerebrospinal fluid. Meningococcal endophthalmitis presents variably with sepsis, meningitis, or isolated ocular symptoms. Diagnosis is a clinical challenge, requiring diagnostic sampling and treatment from both pediatricians and ophthalmologists. Delayed or incorrect treatment risks blindness, disability, or death. Simultaneous invasion of meningococcus across intact blood-brain and blood-ocular barriers in this child suggests antigenic correlates between meningeal and ocular endothelial interfaces. Meningococcus is an exclusively human pathogen; research is hampered by the lack of animal models. This clinical observation suggests the potential of a novel in vitro experimental approach of using ocular tissue from eye banks to further elucidate the meningococcal-endothelial interaction that underpins meningococcal disease.
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PMID:Neisseria meningitidis endogenous endophthalmitis with meningitis in an immunocompetent child. 2429 45


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