BAG3-related myofibrillar myopathy in a Chinese family.

In contrast to the usual slow disease progression in myofibrillar myopathies, patients with Bag3opathy often have a rapidly progressive and more severe phenotype with a worse prognosis. We describe a Chinese patient, born to non-consanguineous parents, who first presented at age 6 with clumsy walking and difficult climbing staircase. With a history of restrictive lung disease previously diagnosed as asthma, she progressed rapidly with proximal myopathy, rigid spine and bilateral tightening of the Achilles tendons requiring surgical elongation. Hypertrophic cardiomyopathy with restrictive physiology was shown by echocardiogram. Moreover, prolonged QT interval was also noted in the patient. Family history was unremarkable yet her father was incidentally found to have prolonged QT interval. Mutation analysis with genomic DNA of the proband showed heterozygous de novo known mutation c.626C>T (p.Pro209Leu) and a germline variation c.772C>T (p.Arg258Trp) in BAG3. Her father was found to be a carrier of c.772C>T. Muscle biopsy findings were suggestive of myofibrillar myopathy on light microscopy and ultrastructural studies. To our knowledge, this is the first Chinese case of Bag3opathy so far reported.

Review of children with severe trauma or thermal injury requiring intensive care in a Hong Kong hospital: retrospective study.

OBJECTIVE: To study the injury pattern of children admitted for management of severe trauma or thermal injury. DESIGN: Retrospective review. SETTING: Paediatric intensive care unit of a regional hospital, Hong Kong. PATIENTS: Twenty-eight children were admitted under this category from July 1996 to December 1999. MAIN OUTCOME MEASURES: Mechanisms, severity, and circumstances of injury. RESULTS: Road traffic accident was the most common cause of admission, followed by thermal injury, accidental fall, and non-accidental injury. However, children with non-accidental injury were admitted in a significantly more severe condition, as measured by the paediatric risk of mortality score, than those admitted for the other three reasons. Non-accidental injury was also associated with significantly higher morbidity and mortality than the other causes of admission. CONCLUSIONS: During the 42-month study period, trauma and thermal injury accounted for 7% of all admissions to the paediatric intensive care unit. Road traffic accident was the most common reason, while non-accidental injury accounted for the most serious injury. Detailed analysis of these cases identified certain preventable risk factors.

First fatal case of enterovirus 71 infection in Hong Kong.

Enteroviruses are a common cause of childhood infections, from hand, foot and mouth disease, to lethal brainstem encephalitis. Enterovirus 71 was first isolated in 1969. Brainstem encephalomyelitis and pulmonary oedema are postulated to be causally related and have been found to be a common feature of fatal enterovirus 71 cases. A fatal case of enterovirus 71 infection in a 2-year-old, previously healthy boy is reported. He presented to the Department of Paediatrics with clinical features of sepsis within 3 days of onset of fever. A few minutes after injection of midazolam, fentanyl and vecuronium for intubation, cardiac arrest developed and was not amenable to various treatment modalities. Pulmonary haemorrhage and oedema were noted during intubation, and postmortem examination confirmed the presence of brainstem encephalomyelitis.