Infantile Hemangioma of the Posterior Fossa in a Newborn: Early Management and Long-Term Follow-up.

A 21-day-old male infant was admitted with signs of intracranial hypertension. Brain magnetic resonance imaging (MRI) revealed a voluminous mass in the posterior fossa with an intense peripheral enhancement on T1 images with gadolinium. The child was treated secondarily by surgical decompression of the posterior fossa and the lesion was biopsied. The pathological findings indicated infantile hemangioma. Treatment with oral prednisolone was initiated at 3 months, given the lack of tumor involution. Six months after corticotherapy was stopped, repeated MRIs indicated a significant reduction in tumor size and then complete disappearance. Psychometric evaluation was performed at the age of 15 years, showing heterogeneous cognitive disabilities, with verbal abilities superior to nonverbal abilities and delayed motor development. Neurological examination was normal with no focal deficit. To our knowledge, this is the first published case reporting the long-term evolution of a patient with neonatal intracerebral hemangioma. We conclude that psychometric evaluations should be part of the long-term follow-up of children who have had an intracranial capillary hemangioma.

[How to perform a gynecological examination in the girl]? / Comment réaliser un examen gynécologique chez la petite fille ?

How to perform a gynecological examination in the girl ? Precautionary gynecological examination is very important in the pre-pubescent girl, since it allows the diagnosis of most pathologies. Parents should be present in order to establish a climate of trust. The most suitable position is that of "the frog". The use of MEOPA (nitrogen monoxide-oxygen mixture) is valuable. The main reasons for consultation are vulvitis, leucorrhea and genital haemorrhage. Complementary examinations are rarely indicated, particularly bacteriological samples which are painful and usually unnecessary.

Comment réaliser un examen gynécologique chez la petite fille ? Chez la petite fille prépubère, un examen gynécologique soigneux et bien conduit est primordial puisqu'il permet de diagnostiquer la plupart des pathologies. Il est souhaitable que les parents soient présents, afin d'établir un climat de confiance. La position la plus adaptée est celle de la grenouille. L'utilisation du mélange équimoléculaire oxygène-protoxyde d'azote (MEOPA) est une aide précieuse. Les principaux motifs de consultation sont la vulvite, les leucorrhées, les hémorragies génitales. Les examens complémentaires sont rarement indiqués, notamment les prélèvements bactériologiques, qui sont douloureux et le plus souvent inutiles.

Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype.

Marfan syndrome (MFS) is a rare connective tissue disorder caused by mutation in the gene encoding the extracellular matrix protein fibrillin-1 (FBN1), leading to transforming growth factor-beta (TGF-ß) signaling dysregulation. Although decreased axial and peripheral bone mineral density (BMD) has been reported in adults with MFS, data about the evolution of bone mass during childhood and adolescence are limited. The aim of the present study was to evaluate bone and muscle characteristics in children, adolescents, and young adults with MFS. The study population included 48 children and young adults (22 girls) with MFS with a median age of 11.9 years (range 5.3 to 25.2 years). The axial skeleton was analyzed at the lumbar spine using dual-energy X-ray absorptiometry (DXA), whereas the appendicular skeleton (hand) was evaluated using the BoneXpert system (with the calculation of the Bone Health Index). Muscle mass was measured by DXA. Compared with healthy age-matched controls, bone mass at the axial and appendicular levels and muscle mass were decreased in children with MFS and worsened from childhood to adulthood. Vitamin D deficiency (<50 nmol/L) was found in about a quarter of patients. Serum vitamin D levels were negatively correlated with age and positively correlated with lumbar spine areal and volumetric BMD. Lean body mass (LBM) Z-scores were positively associated with total body bone mineral content (TB-BMC) Z-scores, and LBM was an independent predictor of TB-BMC values, suggesting that muscle hypoplasia could explain at least in part the bone loss in MFS. Patients with a FBN1 premature termination codon mutation had a more severe musculoskeletal phenotype than patients with an inframe mutation, suggesting the involvement of TGF-ß signaling dysregulation in the pathophysiologic mechanisms. In light of these results, we recommend that measurement of bone mineral status should be part of the longitudinal clinical investigation of MFS children.