Biomedical subjects

Mohammed Aldosari

Publications and source records attributed to Mohammed Aldosari.

3 recordsLinked to original sources

PubMed2004

Krabbe disease: neurophysiologic studies and MRI correlations.

BACKGROUND: Krabbe disease (KD) is a rare hereditary leukodystrophy affecting children mostly in the first 6 months of life; later onset has been reported as well. OBJECTIVE: To review abnormalities in neurophysiologic studies in children with KD and determine if there is a correlation between these studies and disease severity as measured by MRI scans. METHODS: KD patients with at least one neurophysiologic study and one MRI scan at the authors' institution were reviewed. Relationships between KD type, neurophysiologic studies, and severity of disease as measured by MRI were explored. RESULTS: Data were available for 26 children: 20 with early infantile KD (EIKD) and 6 with late-onset KD (LOKD). Flash visual evoked potentials were abnormal in 53% of EIKD children, whereas none of the LOKD children had an abnormal study. Brainstem auditory evoked potentials were abnormal in 88% of EIKD and 40% of LOKD children. EEGs were abnormal in 65% of EIKD and 33% of LOKD children. Nerve conduction studies were abnormal in all children with EIKD and in 20% of LOKD children. Abnormal neurophysiologic studies correlated with more extensive disease as measured by MRI scans. CONCLUSIONS: Children with early infantile Krabbe disease and late-onset Krabbe disease have different patterns of abnormalities in neurophysiologic studies. These studies offer an objective means of assessing KD and correlate well with disease severity measured by MRI scans.

Adolescent↗

PubMed2004

Brain-stem auditory and visual evoked potentials in children with Krabbe disease.

OBJECTIVE: There are few reports in the literature detailing brain-stem auditory and visual evoked potentials (BAEP and VEP) in children with Krabbe disease (KD). The purpose of this study was to provide a descriptive analysis of the BAEP and VEP findings in these children. METHODS: Charts of children with KD were reviewed. BAEP and VEP studies performed on these children were reviewed; findings in the early infantile and late onset KD (EIKD, LOKD, respectively) groups were also examined. Likelihood ratios (LR) for the neurophysiologic tests being abnormal in the various groups were also determined. RESULTS: BAEP abnormalities were seen in 15/17 (88%) children with EIKD and 2/5 (40%) children with LOKD, LR statistically significant. In the EIKD group, all 13 symptomatic children had an abnormal BAEP, whereas 2/4 (50%) of the pre-symptomatic children had similar findings, LR statistically significant. VEP abnormalities were noted in 8/15 (53%) children with EIKD and none of the children with LOKD, LR statistically significant. In the EIKD group, the 8/12 (67%) symptomatic children had an abnormal VEP, whereas none of the pre-symptomatic children did, LR statistically significant. Subgroup analyses of the LOKD subgroups did not yield significant findings. CONCLUSIONS: BAEP abnormalities are among the first objective indications of central nervous system disease in children with EIKD. VEP abnormalities occur later in the course of the illness. Both tests are less helpful in children with LOKD. SIGNIFICANCE: BAEP and VEP testing is helpful in objective evaluation of children with KD.

Age of Onset↗

PubMed2003

Delayed visual maturation associated with auditory neuropathy/dyssynchrony.

Delayed visual maturation is a term used to describe infants who initially seem blind but subsequently have a marked improvement. The mechanism of visual loss and the subsequent improvement remains unknown. Auditory neuropathy/dyssynchrony is a condition of hearing impairment associated with absent or severely abnormal brainstem auditory evoked potentials but normal cochlear functions as measured by otoacoustic emissions. In this report, a 9-month-old infant who had no visual fixation for the first 3 months of life and congenital hearing impairment is described. Her brainstem auditory evoked potential study at 2.5 months of age showed no response to click stimuli presented at 90 dB nHL, whereas her otoacoustic emissions were normal. Subsequently, her vision and hearing improved. A brainstem auditory evoked potential study at 9 months of age showed reproducible waveforms. This case suggests the need for a detailed hearing evaluation of children with delayed visual maturation. Furthermore, this case highlights the need for follow-up brainstem auditory evoked potential testing prior to pursuing any audiologic intervention.

Evoked Potentials, Auditory, Brain Stem↗