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A 15-year-old Chinese boy developed rhabdomyolysis with myoglobinuria and marked elevation of serum creatine phosphokinase following a prolonged and severe attack of asthma. He recovered after vigorous hydration and supportive treatment. Clinicians should be aware of this potentially fatal, albeit rare, complication of status asthmaticus.

A rare case of familial lipoprotein lipase (LPL) deficiency in a Chinese newborn who presented with severe hyperbilirubinaemia is described. The falsely high serum bilirubin concentration was subsequently found to be a laboratory analytical error caused by interference of optical measurement of the lipaemic serum. Hypertriglyceridaemia and chylomicronaemia could be safely and effectively controlled by a fat-restricted diet using either modified elementary milk formula fortified with protein, calories and minerals, or the commercially available special milk formula such as Monogen or Portagen. DNA sequence analysis of the patient showed a Leu252Arg mutation in exon 6 of both alleles of the LPL gene. Although the parents were unrelated, both were heterozygous carriers of the same genetic defect. Codon 252 in exon 6 appears to be a common and critical site of mutation in the LPL gene of Chinese, but this important association has not been recognized previously.

A newborn infant who presented with central cyanosis was found to have hereditary methaemoglobinaemia. The pulse oximeter readings and physical findings were incompatible. Clinical assessment remains an important part in the management of such cases.

Two rare cases of isolated central nervous system (CNS) candidiasis in preterm infants have been diagnosed in a tertiary neonatal centre over the past 6 years. Despite the life-threatening nature of the disease, biochemical infection markers were not useful for the early identification of localized fungal infection. Because the infection was likely to have been blood borne, we postulated that the initial fungal load was probably low and that the organisms were rapidly eliminated from the circulation after a few had been deposited in the CNS. Hence, the absence of fungaemia or systemic involvement precluded the activation of cytokines and cellular markers. Clinicians should be aware of the limitation of biochemical infection markers so that diagnosis and treatment of fungal infection will not be delayed.

Five cases of moderately severe hypernatraemic dehydration were identified within a 5-month period between two regional hospitals in Hong Kong. Unlike previous reported cases, these exclusively breast-fed infants presented with the unusual triad of fever, absence of overt signs of dehydration and within the first week of life. Three of the cases also had high serum bilirubin concentrations at presentation. The fever subsided quickly and the serum bilirubin concentration fell rapidly within a few hours of rehydration. All infants made an uneventful recovery without permanent neurological sequelae. Fever, presumably secondary to dehydration, is an useful early warning sign. These cases emphasize the importance of early and regular measurement of bodyweight in exclusively breast-fed infants so that prompt identification of affected cases may prevent potentially detrimental complications.

We report a case of galactose-1-phosphate uridyl transferase (GALT) deficiency in a full-term Chinese neonate, who presented with atypical biochemical features of hyperammonaemia in addition to the classical presenting features of jaundice and lethargy after feeding. Red cell GALT activity was virtually absent in the patient while 50% of normal activity was found in parents and a sibling. Mutation screening excluded both Q188R and N314D as the causative mutation in GALT gene, which suggested a possible genetic segregation among ethnic groups. Data from a Taiwan screening program suggested that the incidence of the disease was approximately 1 in 400 000 in the Chinese population which was a sixth of that in Caucasian populations.

A severe case of aplasia cutis congenita in a preterm infant is described. Although major problems with thermoregulation and fluid balance were anticipated, these parameters were relatively easy to control once the patient was stabilized. Meticulous skin care and rapid formation of a membranous-like fibrous tissue layer covering the denuded areas probably played an important role in minimizing excessive fluid and heat loss. The prognosis in aplasia cutis congenita is determined by the underlying associated anomalies, the severity of skin lesions and, in our case, the maturity of the infant who died from complications of prematurity.

Objective: To investigate the acute effects of red blood cell transfusion on haemodynamics in preterm babies., Setting: A neonatal unit in a University Hospital., Patients: Preterm babies whose postnatal age was less than four weeks and who required red blood cell transfusion., Measurement: Cardiac output and left ventricular systolic function was determined using Doppler echocardiography before, one hour and 24 h after red blood cell transfusion. Blood pressure and haematocrit were also recorded at the same time. Mixed-effects regression model was used to analyse the effect of blood transfusion on left ventricular function and cardiac output., Results: 57 preterm babies were recruited. Univariate analysis showed that cardiac index decreased significantly 24 h after transfusion (P<0.05). Systemic red cell transport increased by an average of 11.1% 24 h after transfusion (P<0.05). Multivariate analysis showed that the cardiac index was negatively associated with haematocrit and the index was higher in male babies., Conclusion: There was a significant drop in cardiac index and an increase in systemic red cell transport 24 h after transfusion in premature babies.

Non-traumatic massive subdural haematoma is a rare condition in newborn infants and is usually associated with hereditary coagulation disorders or congenital vascular malformation. Its occurrence in preterm very low birthweight infants secondary to systemic bacterial infection has not been reported. We describe two extremely preterm neonates who developed massive subdural haematoma as a result of gram-negative septicaemia and disseminated intravascular coagulation. Both infants suffered severe parenchymal cerebral injury and hydrocephalus. Clinicians should be aware of this unusual and catastrophic complication if a very low birthweight infant with severe sepsis and disseminated intravascular coagulation suddenly deteriorates despite successful treatment with antibiotics. Radiological imaging by cranial ultrasound or computed tomography scanning should be routinely considered in all such infants for the detection of intracranial bleeding.

A preterm infant developed bilateral tension pneumothoraces and extensive vascular air embolism 6 h after being commenced on nasal continuous positive airway pressure (CPAP). Neonatal clinicians should be aware that catastrophic vascular air embolism could occur in infants receiving nasal CPAP, a modality of respiratory support conventionally considered non-invasive and 'safe'.

Isolated congenital tricuspid valve dysplasia is a rare and potentially lethal congenital heart disease that can be easily confused with persistent pulmonary hypertension of the newborn. We describe a neonate with isolated congenital tricuspid valve dysplasia who did not respond to mechanical ventilation but improved by tolazoline. Clinicians should be aware that the initial fulminant course of this condition may be reversed by reducing the pulmonary vascular resistance, thereby allowing time for spontaneous recovery.

Clinicians practising in different regions of the world are often impressed at marked differences in disease patterns witnessed. The bases of most obvious differences are usually socio-economic and genetic, but culture and environment can be equally important. Documenting and assessing such differences is more than just a passing interest. Globalization has resulted in significant movement of people from one area to another. During the past decade, many young Chinese families have emigrated to Australia, Europe and North America for social and political reasons. Clinicians in these regions will need to be aware of the "Chinese disease patterns'. This overview highlights some of the more striking differences seen in neonatal medicine between the East (Hong Kong) and the West (Australia/Europe/North America). In addition to the immediate clinical relevance, it is hoped that this review can provide a background from which fruitful research ideas may emerge and to stimulate interest for trainee neonatologists who wish to seek sabbatical experience in Hong Kong.

A baby with congenital heart block and hydrops fetalis diagnosed prenatally was delivered at 36 weeks of gestation. Heart failure was controlled with temporary cardiac pacing which was complicated by perforation of the myocardium. She made an uneventful recovery after implantation of a permanent pacemaker. Sjögren's syndrome A antibodies were detected in her serum. Coincidentally, she also had pulmonary valvular stenosis as a structural abnormality.