Kabuki syndrome is a rare multiple congenital anomalies/mental retardation syndrome comprising a distinct facial appearance and fetal fingertip pads. We observed two patients with Kabuki syndrome and describe unusual life-threatening complications, including stenosis of the central airways (not previously reported), extrahepatic biliary atresia, and congenital diaphragmatic hernia.

To delineate more precisely the role of gestational age, weight at birth and thyroid status at birth on the postnatal changes in thyroid hormone levels, serum T4, T3, TSH and in some cases FT3I were measured at birth and at 3-4 h, 24-30 h, 6-9 days and 13-20 days. Subjects studied were healthy appropriate-for-date (AFD) and small-for-date (SFD) term neonates and healthy AFD and SFD preterm children. At birth T4 and T3 are related to both gestational age and weight with T4 and T3 showing lower values in preterm and SFD term neonates than in AFD term children. After birth T4 and T3 concentrations show a better correlation with gestational age than with weight at birth. For TSH no correlation was found at birth, a positive correlation at 24-30 h, no correlation at 6-9 days and a negative correlation at 13-20 days both with gestational age and weight at birth. In term and close-to-term infants (36 weeks) individual T4 levels at 6-7 days show a close relationship with those at birth; in the younger children (34 and 35 weeks) lower T4 values are found, despite equal cord blood values. The individual cord blood FT3I/TSH values correlate well with those at 6-7 days of age. It is concluded that after birth all children have changing T4 and T3 values, but the pattern and level are influenced by the maturity of the child and its thyroid status at birth measured by T4 and by the FT3I/TSH ratio.(ABSTRACT TRUNCATED AT 250 WORDS)

Somatosensory evoked potentials (SEPs) were studied in jaundiced and normal neonates on the day the highest bilirubin values were reached, 2-3 days later, and at five weeks. During the first week three groups were formed according to peak bilirubin values: A: greater than or equal to 250 mumol/l (n = 20), B: 125-250 mumol/l (n = 6), C: less than 125 mumol/l or no jaundice (n = 19). At five weeks 10 infants of group A were reinvestigated, together with 17 controls. Cervical (N13) and scalp SEPs (N19) were recorded with a variable number of stimuli. The SEPs of group B and C did not differ from each other. In group A the N13 peak latencies were within the range of group C at the first investigation, but prolonged at the second and third. The cortical components were prolonged at the first investigation, improved but still prolonged at the second, while the N19 peak latency was still prolonged at the third investigation. The central conduction time (CCT) correlated positively with the bilirubin level. Since a rapid decrease in the N19 amplitude was found for all groups from 25 to 100 stimuli, recordings should be done with a low number of stimuli (less than 100). Our findings indicate that both the periferal and the central components of the SEPs in the neonatal period are delayed by jaundice and that full recovery is not obtained at five weeks. The non-invasive SEP technique can be used as a daily monitor of the effect of bilirubin on the CNS.

ABSTRACT. To assess the influence of treatment on the development of the somesthetic pathway in infants with congenital hypothyroidism receiving early treatment, median nerve somatosensory evoked potentials were measured during the 1st y of life.Twenty-nine infants were studied with six to seven somatosensory evoked potential tests per infant. The cervical latency (N13) divided by arm length and the first (N19) and second (N32) cephalic latencies as well as N13-N32 latency were measured. At diagnosis, all components showed a small but significant delay, which was not related to thyroxine (T4) levels before treatment. During treatment, T4 ranged from 50 to 290 nmol/L. At 12 mo, the cervical latency divided by arm length had normalized, whereas N19 and N13-N32 were more abnormal than at diagnosis. For N19, these abnormalities were related to a slow initial rise of T4 (1100 nmol/L after 1 wk of treatment) and the initial N19 values. Abnormal N13-N32 values were associated with high T4 values during treatment (>200 nmol/L) and the type of congenital hypothyroidism (partial or total deficiency in T4 production). Induction of therapy with I-triiodothyronine rather than I-thyroxine and the occurrence of low T4 values ( e l 0 0 nmol/L) after the 4th wk of therapy had no such effect. Our data suggest that, for normal CNS development, euthyroidism should be reached as soon as possible by adequate induction therapy. Thereafter, T4 supplementation should be strictly dosed, keeping the serum T4 values within narrow limits around the mean normal for age, because overtreatment, like initial undertreatment, may lead to CNS abnormalities at the end of the first year. (Pediatr Res 34: 73-78,1993) Abbreviations CHT, congenital hypothyroidism I-T4, levo-thyroxine 1-T3, levo-triiodothyronine I-T4/f, fast initial serum T4 rise on I-T4 induction I-T4/s, slow initial serum T4 rise on I-T4 induction PD, partial deficiency in T4 production TD, total deficiency in T4 production PMA, postmenstrual age SEP, somatosensory evoked potentials N13/AL, latency to first negative peak in cervical lead divided by arm length N19, latency to first negativity in cephalic lead N32, latency to second negativity in cephalic lead N60, latency to third negativity in cephalic lead P22, latency to first positivity after N19 T4>200, group with serum T4 >200 nmol/L on all occasions T 4~2 0 0 , group with serum T4 ~2 0 0 nmol/L on all occasions bl, slope for period T4 ~2 0 0 nmol/L b2, slope for period T4 >200 nmol/L The major objective of the national screening programs for CHT is the prevention of neurologic damage. On the whole, the results of the screening seem gratifying, but there are still unsatisfying aspects. Several studies (1-3) report CHT infants displaying minor neurologic dysfunctions and subnormal IQ at later age despite early diagnosis and treatment. Other studies report normal findings (4-6).Generally, the neurologic deficits are ascribed to perinatal thyroid hormone deficiency, because they were found to be related to very low initial T4 val...

The effect of age on the maturation of median nerve somatosensory evoked potentials (SEPs) was studied in 103 normal neonates (24 preterm, 79 term) at the postconceptional age (PCA) of 36-48 weeks. The influence of birth weight was evaluated in 44 term neonates, aged 0-7 days, according to their gestational age (GA) stratified into three groups: A: 38-39 weeks (n = 15); B: 39.5-40.5 weeks (n = 15); C: 41-43 weeks (n = 14). The mean birth weight was not different in the three groups. For all infants the N13 latency recorded at cervical (CS2-Fz) level as well as the N19 onset and peak latency at cortical (C3'/C4'-Fz) level were measured. For these parameters and for the N13 latency divided by arm length (N13/AL) and the N19 ascending time (N19AT) the P50, P97 and P3 were calculated as a function of PCA. They were all decreasing in the 36-48 weeks period, fast before 40 weeks and slowly thereafter. The SEP values of groups, A, B and C were not different, but in each group the wave pattern of the cortical SEPs was more mature in the larger than in the smaller infants. For the groups A, B and C together birth weight (in SDS) correlated inversely with the N13/AL and the N19AT (both in SDS) (r = 0.73 and 0.52 respectively, p less than 0.001). Our data indicate that the progression of maturation of the various SEP components in the period of 36-48 PCA is non-linear.(ABSTRACT TRUNCATED AT 250 WORDS)