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[Familial form of pyknodysostosis with hematologic manifestations in a child]
S Le Bouedec1, I Pellier, X Rialland
1Unité de réanimation polyvalente de l'enfant, CHU, Angers, France.
Background:
Pyknodysostosis is characterized by post-natal onset of short-limbed short stature and generalized hyperostosis. It must be differentiated from osteopetrosis with precocious manifestations in which hyperostosis may crowd the marrow cavity with extramedullary hematopoiesis.
Case Reports:
A boy, born from consanguineous parents presented with classical features of pyknodysostosis: short-limbed stature, large skull, frontal bossing, wide anterior fontanelle and tendency to fracture. His sister had the same features at the age of 3 months; she had hepatosplenomegaly at the age of 5 months with anemia, erythroblastosis (13%), myelemia and, at 10 months, thrombocytopenia.
Conclusion:
Hyperosostis can be complicated by development of such severe hematological manifestations as classically seen in osteopetrosis. Differential diagnosis between both entities is based upon radioclinical investigation.