Thromboses veineuses cérébrales chez l'enfant

peer reviewe

Borrelial Lymphocytoma in children: don't miss this skin marker of Lyme Disease

editorial reviewedBorrelial lymphocytoma is a rare but pathognomic cutaneous manifestation of Lyme disease. It mainly occurs in the early disseminated stage (secondary stage). Here we report two cases of borrelial lymphocytoma in children. Furthemore, the steps to the diagnosis as well as the treatment are discussed

Thromboses veineuses cérébrales chez l'enfant

peer reviewe

Image of the month : Arched tibia in the newborn

peer reviewe

Thromboses veineuses cérébrales chez l'enfant

peer reviewe

Corrélation phénotype-génotype chez les enfants atteints de neurofibromatose de type 1

AbstractNeurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with an incidence of ∼1 in 4,000 live births. Neurofibromin, the gene product, is ubiquitously expressed at high levels in the nervous system and functions as a tumor suppressor. Haploinsufficiency of neurofibromin through mutation leads to an increased risk of developing benign and malignant tumors in affected individuals. Although NF1 has complete penetrance, it displays considerable inter- and intrafamilial variability in phenotypic expression which poses disease prediction and management problems. Some NF1 genotype–phenotype correlations have been described. To evaluate the genetic component of variable expressivity in NF1, we examined the phenotypic correlations between affected relatives in 52 NF1 patients from 45 families.</jats:p

A simple case of torticollis leads to the diagnosis of an infantile desmoplastic astrocytoma.

info:eu-repo/semantics/publishe