Subject(s)
Meningitis, Bacterial/diagnosis , Skin Pigmentation , Streptococcal Infections/diagnosis , Humans , Infant, Newborn , Intensive Care Units, Neonatal , Male , Meningitis, Bacterial/drug therapy , Meningitis, Bacterial/microbiology , Penicillins/therapeutic use , Streptococcal Infections/drug therapy , Streptococcal Infections/microbiology , Streptococcus bovis/isolation & purificationABSTRACT
Isovaleric acidaemia is a rare inherited organic acidaemia associated with a characteristic odour in affected patients. Fewer than 40 causative mutations have been reported to date. We report a case in a Hong Kong Chinese neonate who presented with respiratory distress and acute encephalopathy requiring aggressive resuscitation and treatment. Residual gross motor developmental delay was still observed at the age of 16 months. The child was subsequently found to harbour a known missense mutation (c.A1199G [p.Y371C]) and a novel 4-bp duplication (c.1148_1151dupGCTA [p.Y355X]) in the IVD gene. We suggest that the former is a founder mutation in the Chinese population and propose an explanation for the duplication event. Strategies that may achieve early diagnosis and prompt treatment include raising awareness of this condition, implementation of a tandem mass spectrometry neonatal screening programme, and local acquisition of appropriate medications for these metabolic diseases.
Subject(s)
Amino Acid Metabolism, Inborn Errors/genetics , DNA Polymerase I/genetics , Isovaleryl-CoA Dehydrogenase/genetics , Mutation, Missense/genetics , Amino Acid Metabolism, Inborn Errors/enzymology , Founder Effect , Hemiterpenes , Humans , Infant, Newborn , Male , Pentanoic Acids , Tandem Mass SpectrometryABSTRACT
BACKGROUND: The purpose of the present study was to determine the effects of massage therapy on motor development, weight gain, and hospital discharge in preterm very low-birthweight (VLBW) newborns. METHODS: Twenty-four preterm VLBW newborns (<34 weeks and <1500 g) were enrolled in this randomized controlled pilot study. The intervention group (n = 12) received massage therapy starting at 34 weeks post-conceptional age (15 min daily, 5 days/week for 4 weeks). The infants in the sham treatment group (n = 12) received similar duration of light still touch. Test of Infant Motor Performance (TIMP) score gain, weight gain, and post-conceptional age at discharge were compared between the two groups after intervention using Mann-Whitney U-test. RESULTS: No significant between-group difference in TIMP score gain and weight gain was identified when all subjects were analyzed. In subgroup analysis, among those with below-average pre-treatment TIMP score (<35), the intervention group (n = 6) achieved significantly higher TIMP score gain (P = 0.043) and earlier hospital discharge (P = 0.045) than the sham treatment group (n = 5). These same infants, however, also had significantly shorter duration of total parenteral nutrition than their counterparts in the sham treatment group (P = 0.044). CONCLUSIONS: Massage therapy might be a viable intervention to promote motor outcomes in a subgroup of VLBW newborns with poor motor performance. A larger randomized controlled trial is required to further explore the effects of massage therapy in this high-risk group.
Subject(s)
Child Development/physiology , Infant, Very Low Birth Weight , Massage/methods , Motor Skills/physiology , Female , Follow-Up Studies , Humans , Infant Care/methods , Infant, Newborn , Intensive Care Units, Neonatal , Male , Musculoskeletal Manipulations/methods , Pilot Projects , Reference Values , Statistics, Nonparametric , Task Performance and Analysis , Time Factors , Treatment Outcome , Weight GainABSTRACT
We report on three Chinese neonates with carnitine-acylcarnitine translocase deficiency. They presented within the first 48 hours of life. Two neonates were found in cardiac arrest; one of them survived after resuscitation. The third neonate suddenly developed cardiorespiratory insufficiency and succumbed eventually. The clustering of three cases in 5 years suggests that carnitine-acylcarnitine translocase deficiency is not rare in our Chinese population. We advocate that investigation for metabolic diseases including carnitine-acylcarnitine translocase deficiency should be performed in cases of sudden infant death and unexplained abrupt clinical deterioration in the early neonatal period. Non-ketotic hypoglycaemia is an early clue. The mainstay of initial treatment is glucose infusion at a rate greater than 7 mg/kg/minute, which inhibits beta-oxidation of fatty acids (the defective enzymatic steps in carnitine-acylcarnitine translocase deficiency) and thus prevents the accumulation of toxic long-chain acylcarnitines.
