Background: The syndrome of Taybi-Linder (TALS) or paramount dwarfism microcephalic of type 1 (MOPD1) is an uncommon illness characterized by an intra-uterine delay of growth, multiple malformations (short members, facial dysmorphie) and especially of the cerebral abnormalities. The infants carrying this disease can live until the age from 2 to 3 years and, often at the time of an infection, their state worsens quickly in a few hours (conscience disorder, convulsions) until the death. No identified metabolic anomaly explains this death.
Method: We report the case of a young boy of 2 ans and 3 months old SGA which consults for a delay of growth and malformatif syndrome. The clinical examination objectifies a dwarfism 68 cm (−6.1 SDS) with a microcephaly, a short neck, small ears, dry skin, bilateral polydactyly post axial, bilateral cryptorchidism and a genu varum. Neurologically exist a delay of psychomotor acquisitions. Microcephaly and the psychomotor delay, a Brain MRI concludes with a partial agenesis of the corpus callosum, lissencephaly with diffuse parenchymatous atrophy. The radiography of the members shows us a skeletal dysplasia.
Results: All this evoke the diagnosis of the paramount dwarfism of type 1 of TAYBI LINDER for which unfortunately no treatment exists for the moment with a forecast alas fatal. Our patient presented himself for a delay of growth and this in spite of the preexistent syndrome malformatif what enabled us to pose the diagnosis of dwarfism primorial microcephalic of type 1 which remains very rare besides it exists about it in the world approximately 30 CA whose treatment is only symptomatic.
Conclusion: The forecast is severe, with a death during the first year of the life noted at most reported cases. Our patient unfortunately died at the age of 2 ans and 6 months.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology