Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report the observation of an infant who begins at the age of 7 months to present episodes of epileptic apnea with cyanosis, lost of consciousness, hypotony and sometimes ocular revulsion and distal myoclonia. From their onset there are several a day, more frequent during sleep than when awake. From the EEG point of view they are characterized by a 5-7 c/sec large and diffuse rhythm. The infant also presents epileptic myoclonias, tonic and partial seizures. She has a very slight evolutive encephalopathy, disclosed at the age of 4 months by a psychomotor retardation. No etiology has been proved. The CT scan shows during the evolution a cortico-subcortical atrophy. Every type of seizure was very resistant to different treatments. The apneas disappeared after ACTH therapy. The authors demonstrate the epileptic nature of these apneas which are very rarely observed after the neonatal period.
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PMID:[Episodes of apnea in an infant: unusual forms of epileptic seizures]. 241 Sep 59

In the nursery of an Austrian hospital, five newborns accidentally received 10% natrium chloride solution by infusion or oral feeding. Because of wrong labelling by the hospital pharmacy the solution was taken for 10% glucose. In all five newborns, bradycardia, edemas, cyanosis and cramps occurred. In all cases, autopsy revealed a fatal haemorrhagic encephalopathy and more or less extended haemorrhages of the lungs, the kidneys and the liver. There was no suppurative pneumonia and no arteritis. The intracerebral bleedings, thromboses and necroses may be provoked by tissue shrinking caused by hypernatraemic dehydration. The cerebral lesions again cause hyperosmolarity leading to death in most cases. Peritoneal dialysis which may be life-saving in some cases, unfortunately has not been performed in the present cases.
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PMID:[Accidental saline poisoning in newborn infants. Morphologic findings and pathogenetic discussion]. 365 35

Pertussis, one of the most communicable respiratory diseases, has a wide spectrum of severity, which generally decreases with age. Adults with waning immunity, who have subclinical pertussis, frequently infect nonimmunized or underimmunized children within the same household. High levels of pertussis activity persist, even in highly immunized populations. Infants less than 2 months of age have the highest attack rate and greatest morbidity and mortality. Serious complications include apnea, pneumonia, encephalopathy, and recurrence of coughing spasms with cyanosis. These complications further contribute to a protracted disease course in young infants. Although a decrease in the incidence of pertussis has occurred since the advent of active immunization in the United States, recent data show a striking resurgence in cases. Widespread transmission of disease, even in immunized individuals, and subclinical adult infection, which serves as a reservoir for disease in young infants, underscore the need for a more effective vaccine immunization strategy.
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PMID:Pertussis in the young infant. 776 15

Effect of conventional fiberoptic bronchoscopy (FOB) procedure (Group A, n = 10) and bronchoalveolar lavage (BAL) (Group B, n = 11) on arterial blood gases was studied in 21 patients. A significant fall in arterial oxygen tension (PaO2) with widening of alveolar arterial oxygen gradient D(A-a)O2 was observed during FOB (p < 0.001) and 30 minutes following the procedure (p < 0.001). Bronchoalveolar lavage was also associated with significant fall (p < 0.001) in PaO2 with increased D(A-a)O2 and this fall in PaO2 persisted for 30 minutes after the procedure (p < 0.01). None of the patients received oxygen during the procedures. None of the patients in either group developed bronchospasm. No change in arterial carbon dioxide (PaCO2) was observed in either group. Hypoxaemic encephalopathy developed in one patient in group A, hypotension and cyanosis developed in one patient each in group B. No mortality was encountered in the study. All the three patients with complications were excluded from final analysis. It was concluded from this study that both conventional bronchoscopy and BAL procedures were associated with significant hypoxaemia and supplemental oxygen should be given to all patients during the procedure and should be continued for at least 30 min. afterwards.
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PMID:Effect of routine fiberoptic bronchoscopy and bronchoalveolar lavage on arterial blood gases. 822 29

Noninvasive mechanical ventilation (NMV) now represents the first step in the management of acute on chronic respiratory failure (A/CRF). During the last 5 yrs, many studies have confirmed the feasibility of NMV in an acute setting, either by facial or nasal interface, used in addition to volumetric or barometric respirators, to manage A/CRF. The best indications for NMV are slowly progressive A/CRF, frequently represented by chronic obstructive pulmonary disease (COPD), or restrictive pulmonary disease. The criteria to initiate NMV in such patients are worsening of respiratory status and arterial blood gas (ABG) values, with increased hypoxia, hypercapnia and respiratory acidosis, despite optimal management with medication, physiotherapy and oxygen therapy. Respiratory encephalopathy is not an absolute contraindication; however, bronchial hypersecretion indicates that care is needed under NMV. Invasive mechanical ventilation with endotracheal (ET) intubation is discussed in the case of failure of NMV, when clinical status and ABG values worsen in spite of it. The signal for ET intubation is then obvious, represented by severe dyspnoea leading to respiratory pauses or arrest, severe cyanosis, and signs of haemodynamic instability. Despite immediate evidence of ominous cardiorespiratory inefficiency, ET intubation may be delayed and often avoided with the help of NMV. Criteria should be studied to identify guidelines for cessation of NMV, in order not to continue with the technique too long considering the safety of the patient. Indications for NMV in other kinds of ARF have received less study and are more controversial.
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PMID:Noninvasive mechanical ventilation and acute respiratory failure: indications and limitations. 915 23

To confirm the presence of apneusis in patients with hypoxic-ischemic encephalopathy and to clarify which factors influence their respiratory patterns, polygraphic studies were performed on two patients. Apneusis was clinically suspected in both patients who had severe brainstem damage. In one subject, inputs of vagal afferents from the gastrointestinal tract and the urinary bladder often resulted in extreme tachypnea instead of apneusis. Lung inflation facilitated expiration during inspiratory arrest. Expiration preceded a periodic inhibition of rigospastic discharge in the right biceps muscle. In the other subject, prolonged inspiratory pauses with cyanosis occurred with or without preceding epileptic seizure. Both phenytoin dose reduction and treatment with tandospirone, a serotonin-1A agonist, were effective in improving the respiratory distress in this subject.
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PMID:Apneustic breathing in children with brainstem damage due to hypoxic-ischemic encephalopathy. 1047 45

We present a clinico-pathological case report in which both cortical dysplasia and epilepsy coexisted: a 30 year old male who was dead on arrival at hospital. One and a half hours earlier he had developed complex partial status with peri-oral cyanosis. At post mortem examination his brain showed bilateral occipital frontal polymicrogyria with unlayered neuronal migration disorder; in other parts there were fourth layer migration disorders. The white matter exhibited multicystic encephalopathy. In the heart there was chronic interstitial and perivascular fibrosis, although he died of a cardiac arrest. Bilateral frontal-occipital polymicrogyria is highly epileptogenic. This was a sporadic case and we cannot define a clear aetiology. There was a pathological cardiac condition without previous vascular risk factors which might be related to repetition of seizures and possibly to his sudden death during status epilepticus.
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PMID:Bilateral fronto-occipital polymicrogyria and epilepsy. 1146 27

We present a clinico-pathological case report in which both cortical dysplasia and epilepsy coexisted: a 30 year old male who was dead on arrival at hospital. One and a half hours earlier he had developed complex partial status with peri-oral cyanosis. At post mortem examination his brain showed bilateral occipital frontal polymicrogyria with unlayered neuronal migration disorder; in other parts there were fourth layer migration disorders. The white matter exhibited multicystic encephalopathy. In the heart there was chronic interstitial and perivascular fibrosis, although he died of a cardiac arrest. Bilateral frontal-occipital polymicrogyria is highly epileptogenic. This was a sporadic case and we cannot define a clear aetiology. There was a pathological cardiac condition without previous vascular risk factors which might be related to repetition of seizures and possibly to his sudden death during status epilepticus.
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PMID:Bilateral fronto-occipital polymicrogyria and epilepsy. 1218 64

In countries with high rates of vaccination against pertussis, the incidence of this disease has decreased dramatically compared with the prevaccine era. However, pertussis still occurs in these countries, and severe morbidity and mortality are greatest among infants, particularly those who are unimmunized or incompletely immunized. Pertussis in older children and adults is perceived by many as being a mild disease, but it is a significant health burden in persons of all ages. Infants with pertussis experience the highest rates of hospitalization, complications and death. Severe complications include pneumonia, encephalopathy and meningoencephalitis. In addition, infants may experience weight loss, bronchitis, otitis media, apnea, cyanosis, inguinal hernia and rectal prolapse. It is essential to explore methods to prevent disease transmission to infants in the months before they complete their primary immunization series. The Global Pertussis Initiative was established to assess the true health burden of pertussis in infants and to suggest strategies to combat transmission and infection with Bordetella pertussis, which remains a significant public health concern.
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PMID:Health burden of pertussis in infants and children. 1587 22

A patient with a severe neonatal variant of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is reported. The first child of healthy consanguineous Turkish parents presented on the second day of life with dehydration, cyanosis, no sucking, generalized muscular hypotonia, encephalopathy, respiratory depression requiring mechanic ventilation, macrocephaly, severe acidosis and hypoglycaemia. Elevated C5-OH-carnitine in dried blood spot by tandem MS and elevated urinary excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine suggested MCC deficiency, confirmed by enzyme analysis in cultured fibroblasts. Cerebral ultrasonography and cranial CT findings revealed progressive changes such as disseminated encephalomalacia, cystic changes, ventricular dilatation and cerebral atrophy. Treatment with high-dose biotin and protein-restricted diet was ineffective and the patient died at the age of 33 days with progressive neurological deterioration. Mutation analysis revealed a homozygous mutation in the splice acceptor site of intron 15 in the MCC beta-subunit. Early-onset severe necrotizing encephalopathy should be included in the differential diagnosis of isolated MCC deficiency.
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PMID:Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. 1587 10


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