The Nipah virus was first discovered in 1999, following a severe outbreak of viral encephalitis among pig farm workers in Malaysia. The virus was thought to have spread from Pteropus bats to pigs, then from infected pigs to humans by close contact. Mortality of the disease was high at about 40%. The main necropsy finding was disseminated microinfarction associated with vasculitis and direct neuronal involvement. Relapsed encephalitis was seen in approximately 10% of those who survived the initial illness. Since its first recorded emergence in peninsular Malaysia, 10 outbreaks of Nipah virus encephalitis have been reported in Bangladesh and West Bengal in India. The outbreaks occurred from January to May, with Pteropus giganteus as the reservoir of the virus. In Bangladesh, evidence indicated that the virus transmitted directly from bats to human, with human to human transmission as an important mode of spread. The mortality of the illness was higher in Bangladesh which stood at around 70%. This was likely to be due to genetic variation of the virus.
An eight-year-old Chinese girl presented with a slowly progressive generalized muscle weakness and wasting, complicated by respiratory failure. She had many hospital admissions requiring ventilator support. Eventually tracheostomy tube was inserted. Initial investigations failed to elicit a diagnosis but a muscle biopsy and histological study confirmed the diagnosis of juvenile acid maltase deficiency.
We report a case of an 86 year old Chinese man who presented with a painless right testicular swelling that had persisted for one year. There was no history of maldescend or cryptorchid testes. Clinical and ultrasound examination revealed testicular tumour with two round masses within the right scrotal sac, with minimal fluid seen within the sac. Tumour markers were normal. He subsequently underwent a right inguinal orchidectomy under local anaesthesia as he had an underlying cardiac insufficiency. Histopathological examination revealed malignant Sertoli cell tumour. True Sertoli cell mesenchyme tumours constitute less than 1% of all testicular cancers.Current literature on histopathological and clinical features and treatment options are reviewed.
We report the first known ethnic Malay patient with laminin alpha-2 (merosin) deficiency (MDC1A),
a subtype of congenital muscular dystrophy (CMD)as a result of novel LAMA2 gene mutations. The
21-month-old female presented with hypotonia at birth and gross motor delay of her distal lower
limbs. Physical examination showed generalised hypotonia, hyporeflexia and myopathic facies but
good cognitive functions. Serum creatine kinase was elevated and white matter changes were detected
in the brain MRI. Muscle biopsy showed dystrophic changes with complete laminin α2 deficiency
by immunohistochemistry. Mutation analysis of LAMA2 showed compound heterozygote at exon 21,
c.2888delG(p.Gly963Alafs*111) and exon 34, c.4886dupC(p.Pro1629Profs*40) leading to premature
stop codon for each of the frameshift mutations. Patient review at seven years of age showed satisfactory
cognitive functions despite having contractures and weakness. Genetic testing of LAMA2 related
muscular dystrophy facilitated the earlier diagnosis of MDC1A and genetic counselling for this family.