Evaluation of the autonomic nervous system function in children with primary monosymptomatic nocturnal enuresis--power spectrum analysis of heart rate variability using 24-hour Holter electrocardiograms.

OBJECTIVE: The purpose of this study was to evaluate the circadian rhythm of the autonomic nervous system functions of children with primary monosymptomatic nocturnal enuresis. MATERIAL AND METHODS: The subjects were allocated to three groups--enuresis group (n = 72), normal control group (n = 26), post-treated and cured enuresis group (n = 13). In the three groups. we evaluated the autonomic nervous system function by the power spectrum analysis of heart rate variability (HRV) using 24-hour Holter electrocardiograms. Frequency components of the power spectra of HRV (% power) were divided into three factors; the very low frequency (VLF), the low frequency (LF) and the high frequency (HF) by computer analysis using Fast Fourier Transformation (FFT). RESULTS: In the three groups, the HF component reflecting parasympathetic activity was significantly higher, compared with the LF during sleep. The HF in the enuresis group was significantly higher, compared with the HF in the control group during sleep. The HF in the control group was significantly lower, compared with the LF during waking. However, the HF in the enuresis group was significantly higher, compared with the LF during waking. It showed more increased parasympathetic tone in the enuresis group, compared with that of the control group during sleep and waking. In the post-treated enuresis group, the HF during sleep and waking were significantly decreased, compared with those before treatment. CONCLUSION: These findings suggest the parasympathetic hyperfunction through 24 hours and abnormal circadian rhythm of autonomic nervous system functions in the enuresis group. The post-treated enuresis group showed normal autonomic nervous system functions.

A case of trisomy 3q21 leads to qter syndrome.

An infant with karyotype 46,XY,der(8),t(3;8)(q21;p23) is presented. The presence of trisomy 3q21 leads to qter syndrome is suspected on the basis of comparison of the clinical and laboratory findings of this patient with those of cases that have been reported as partial 3q trisomy. The common phenotypic features of this syndrome include growth failure and mental or developmental retardation, hypotonia, persistent lanugo, distorted head, congenital glaucoma, short and upturned nose, prominent maxilla, micrognathia, short, webbed neck, short limbs, retroflexed third and fourth toes, cutaneous syndactyly of the second, third and fourth toes, and elevated galactose-1-phosphate uridyl transferase activity in the red blood cells.