Biomedical subjects
Publications and source records attributed to N Don.
A case of sialuria is described in a girl who presented in the neonatal period with hepatosplenomegaly, and who has moderate developmental delay at the age of 2 years. There was massive urinary excretion of free sialic acid (N-acetylneuraminic acid). The clinical, biochemical and ultramicroscopical features were distinct from those described in Salla disease and in infantile sialic acid storage disorder.
A 15 month old boy with an interstitial deletion 15q derived from a paternal insertion (5;15)(q31.3;q21.1q22.1) is described and compared with one other reported case. A beak like nose with hypoplastic nasal alae, a thin upper lip, failure to thrive in infancy with later onset of obesity, and severe mental retardation are features common to both.
A small epidemic of viral infection occurred in a neonatal unit. It involved 11 infants, all of whom recovered. Echovirus 11 was the cause of illness in six infants, coxsackie B3 in four, and one infant had a biphasic illness, due first to echo 11, then to coxsackie B3. The epidemic coincided with a major outbreak of echovirus 11 and a smaller outbreak of coxsackie B3 in the community. Several staff became ill. Five infants were considered to have been infected by perinatal materno-infant spread, others by cross-infection. The epidemic ended when the nursery was closed.
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