Osteopetrosis-a survey of 17 cases

This is a retrospective survey of 17 children with osteopetrosis admitted in paediatrics ward from 1990 to 1995. Their clinical data, radiographs, laboratory data and histories were analyzed. All of them were male with age range from 1 month to 5 years. 80% of patients had a history of parental consanguinity. All of them had moderate to severe anaemia and failure to thrive as their presenting symptoms. Other predominant associated features were stuffy nose with depressed nasal bridge [95%], hepatosplenomegaly [90%] and increase in size of head [80%]. Neurological complications such as visual loss [80%] and deafness [40%] were also observed. Not a single fracture was observed. The diagnosis of osteopetrosis was made by chance, radiologically. Treatment in all patients was symptomatic. No curative treatment was available. Mortality was high due to repeated infections and bleeding. The possibility of a new subtype of malignant recessive osteopetrosis is discussed

Serum proteins electrophoresis in infants and children

Total serum proteins and its fractions were estimated in 468 infants and children from birth to 4 years in relation to age, sex and dietary pattern. The mean values of total serum proteins and its fractions showed some changes with age, especially in gamma globulins, which was high at birth and showed a decrease at the age of 3 months, after which it increased and attained an adult level at the age of 18 months. No difference was noted between the two sexes. Completely breast fed infants had a significantly higher protein and albumin levels at 3 months than completely weaned infants but no such difference was observed in other protein fractions in the same age groups