RESUMO
Caffey’s disease is a rare disorder affecting the bones in infancy. It is characterized by irritability, fever, cortical hyperosteosis and adjacent soft tissue swelling. Here is report of an uncommon case where the ribs were significantly affected including the clavicle.
RESUMO
Idiopathic bilateral striopallidodentate calcification or Fahr’s disease is a degenerative disease normally found in the 5-6th decade of life. Here we report one of the youngest cases of sporadic Fahr’s disease presenting at five years of age with minimal clinical features but extensive intracranial calcification, a rarity.
RESUMO
Imerslund- Grasbeck syndrome is a rare autosomal recessive disorder due to selective malabsorption of Vitamin B12 at the level of cobalamin-intrinsic factor receptor mutation in the terminal ileum resulting in megaloblastic anaemia with proteinuria. Early detection of this rare disorder would enable screening and genetic counselling for asymptomatic family members.