Background: The pycnodysostose is a genetic lysosomal disease wich is characterized by a ostéosclérose of the skeleton, a small and an osseous brittleness. The pycnodysostose is very rare, its exact prevalence is unknown but it is lower than 1/100,000. The disease is discovered at a variable age, has going from 9 months to 50 years. Transmitted according to a recessive autosomic mode of to a deficit in cathepsine K enzyme which plays a central role in the osseous resorption by osteoclasts.
Objective and hypotheses: To evoke the diagnostic of pycnodysostose when we have a short stature associated with a facial dysmorphia and fractures.
Method: The reported cases result from the same family: three children, two sisters and a brother who present same dysmorphia: bulky skull, of the frontal bumps, persistence of fontanelle former which was closed tardily, anomalies dental, atrophic ends (hands and feet) and a delay of growth which was the reason for consultation. The interrogation finds a consanguinity of second degree and what is striking it is that two children among the three made between 2 and 3 fractures of the lower extremities.
Results: The delay of growth with facial dysmorphia, hands and feet which are short and massive, the bulky skull with an excessive projection of the frontal and occipital bumps, notion of the late welding of fontanelle former, a little projecting eyes with the sclerotic light one slightly bluish, the teeth decayed with repeating fractures, one made make radiographies of the members and skull or one was struck by the generalized thickening of the skeleton, acro-ostéolyse, widening of the joinings making evoke the diagnosis of pycnodysostose. The assumption of responsibility is symptomatic and multidisciplinary. It includes an orthopedic monitoring, an assumption of responsibility of the fractures whose consolidation is sometimes slowed down, and a monitoring of vertebral statics in order to detect frequent the spondylolisthésis. The forecast east will be favorable.
Conclusion: The three children who present a pycnodysostose not only will have a short stature but require a follow-up in order to detect the orthopedic complications and jawbones.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology