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

We reported the first case of typical infantile-type neuronal ceroid-lipofuscinosis (INCL) in Japan. The patient was a 1-year-old girl presenting with rapidly progressive psychomotor deterioration and blindness. Muscular hypotonia, microcephaly and myoclonic jerks became marked with the progression of her disease. Diminution in amplitude of EEG, VEP and ERG was prominent in the initial stage, but ABR was normal. MRI showed progressive brain atrophy. Electron microscopic examination of the biopsied skin revealed granular matrix, the specific inclusion bodies, in the epithelial cell of sweet glands. Many sea-blue histiocytes were demonstrated in her bone marrow samples. INCL is a common progressive encephalopathy in the Scandinavian countries, but a typical case had not yet been fully reported in Japan. This prompted us to report our case. Future reports are need for the study of INCL in Japan.
 ...
PMID:[The first case of infantile type neuronal ceroid-lipofuscinosis in Japan]. 141 75

The technique of ABR testing was applied to 25 infants with neonatal hyperbilirubinemia at levels exceeding that for exchange transfusion, in an attempt to study potential influence of bilirubin toxicity on the auditory brainstem pathway. The test was performed at a mean conceptional age of 40.4 +/- 0.6 weeks just after discharge. Twenty normal term neonates of comparable birth weights and conceptional ages, who had no hyperbilirubinemia, were also examined for comparison. Fifty six percent (n = 14) of the hyperbilirubinemic neonates had some abnormality in the ABR pattern, the major one being a transient increase in the threshold of wave V (7, fail-30; 5, fail-45). Wave V, however, was consistently present at 30 dBnHL click stimulus in all the normal neonates (pass-30; normal threshold). Further, mean ABR latencies (wave III, V) and 1-V interpeak latency (brainstem conduction time) were significantly prolonged in jaundiced neonates as compared with controls (P less than 0.01). ABR changes were strongly correlated with the serum bilirubin levels (P less than 0.001). On follow up retesting at 3 months, however, all infants were found to have normal ABR latencies and threshold. Neonatal jaundice was associated with significant transient aberrations of ABR, suggestive of a transient toxic brainstem encephalopathy.
 ...
PMID:Auditory brainstem responses (ABR) in neonates with hyperbilirubinemia. 209 72

Eleven pediatric patients with only wave I or waves I and II of their ABR were clinically analyzed. The clinical diagnoses of these patients were as follows: 1) anoxic encephalopathy in two cases; 2) neonatal asphyxia in one; 3) infantile Gaucher's disease in one; 4) mitochondrial encephalomyopathy in one; 5) suspected Pelizaeus-Merzbacher disease in three; 6) degenerative disease of unknown etiology in two (presumptive diagnosis were progressive supranuclear palsy and dentate-rubro-pallido-Luysian atrophy); and 7) infantile spasms with congenital malformation of the brain and bones in one. The incidence of the patients with this type of ABR abnormality was 0.67% among 1,650 of our pediatric patients whose ABRs were examined because of audiological or neurological problems. All eleven patients showed severe mental retardation. Nine of the eleven had convulsions and likewise, eight of eleven showed deterioration in mental and/or motor activities. Furthermore seven of eleven had disturbed consciousness and four of these seven were in deep coma. Other brainstem and bulbar signs and symptoms were frequently found in these patients. In our series, patients without the later components of ABR manifested marked neurological abnormalities inside and outside the brainstem.
 ...
PMID:Studies on pediatric patients with absent auditory brainstem response (ABR) later components. 224 Apr 58

One hundred and forty-seven out of 1,600 infants and children showed no detectable ABR. ABRs were evoked by clicks. As to hearing acuity, 121 out of 147 patients had sensorineural hearing loss and 19 had no hearing impairment of high frequency (3-4 kHz) and high sound intensity (85-90 dBnHL). Eight patients could not be diagnosed whether they had hearing impairment or not. Among 19 patients who did not have sensorineural hearing loss in those ranges described above, 5 patients had cerebral palsy with severe mental retardation, 4 had mitochondrial encephalomyopathy, 3 had degenerative disease of unknown etiology, 2 patients had Down syndrome, 1 was a low birth weight infant with respiratory distress syndrome, 1 was a neonate born to a diabetic mother, 1 experienced severe neonatal asphyxia, 1 patient had acute lymphoblastic leukemia and 1 infant was later confirmed as a healthy girl. Of these, four patients showed transiently negative response in ABR. Nine patients remained undiagnosed as to hearing because they were in deep coma, had profound brain damage, or died in early neonatal period. They had major neurological diseases: severe neonatal asphyxia, holoprocencephaly, microcephaly, degenerative diseases of the central nervous system of unknown origin, metachromatic leukodystrophy, trisomy of chromosome 18, anoxic encephalopathy, small for gestational age newborn with intracranial bleeding and posthemorrhagic hydrocephalus. When ABR cannot be recorded using high sound intensity clicks, it usually suggests presence of hearing impairment of high frequency range. However, there are patients who have no hearing impairment in those sounds.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Clinical diagnoses of pediatric patients without detectable auditory brainstem response (ABR)]. 280 11