Résumé
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. MDC1A
Résumé
Hendra and Nipah viruses (genus: Henipavirus) are novel paramyxoviruses that emerged to cause severe human and animal disease. Studies in both humans and animals suggest that both viral infections are associated with similar pathologies. This is probably related to the common viral receptors that henipaviruses employ to infect the cell. The blood vessels and central nervous system tissues were particularly susceptible. A dual pathogenetic mechanism of vasculitis-associated thrombosis/ microinfarction and direct parenchymal cell infection contributed to acute tissue injury. A unique relapsing encephalitis may also complicate henipavirus infection.
Résumé
Measles virus causes three distinct neurological syndromes: acute disseminated encephalomyelitis, subacute sclerosing panencephalitis and the rare subacute measles encephalitis, or inclusion body measles encephalitis. There is a current debate of whether subacute measles encephalitis is an opportunistic infection or a subacute infection caused by a mutated measles strain. There is also no report of long term MRI of survivor. We reported a young Chinese girl with a history of relapsed acute lymphoblastic leukaemia and subacute measles encephalitis confirmed by brain biopsy who survived. Serial magnetic resonance imaging of the brain showed cortical and basal ganglial involvement in the initial phase, and generalized cerebral atrophy in the subsequent scan four and a half years later. The patient recovered from subacute measles encephalitis with substantial neurological deficits with the cessation of maintenance chemotherapy without specific antiviral treatment. This suggested that reconstitution of host immunity was adequate in effecting the clearance of the virus, and supporting the hypothesis that subacute measles encephalitis is primarily an opportunistic infection.