Perinatal arterial ischemic stroke related to carotid artery occlusion.

Background: The aetiology of perinatal arterial ischemic stroke remains speculative. It is however widely accepted that the aetiology is multifactorial, involving various maternal, placental, foetal and neonatal risk factors. A resulting thromboembolic process is hypothesized and the placenta identified as the most plausible source.

Kingella kingae osteoarticular infections in young children: clinical features and contribution of a new specific real-time PCR assay to the diagnosis.

Background: Kingella kingae is an emerging pathogen that may be recognized as the most common bacteria responsible for osteoarticular infections (OAI) in young children. However, its diagnosis remains a challenge and thus little evoked in infants, because K. kingae is a difficult germ to isolate on solid medium, and clinical signs are often mild.

Mild influenza-associated encephalopathy/encephalitis with a reversible splenial lesion in a Caucasian child with additional cerebellar features.

Mild influenza-associated encephalitis/encephalopathy with a reversible splenial lesion is a rare entity recently reported almost exclusively in Asiatic individuals. Hallmarks of this clinical-radiological syndrome include severe encephalopathy at onset, prompt and complete recovery, minimal to absent pleocytosis and rapidly reversible involvement of the splenium of the corpus callosum. We report herein a young Caucasian child who in addition had cerebellar involvement and presented a transient mutism during the recovery phase.

Alexander disease: early presence of cerebral MRI criteria.

Alexander disease is a rare neurodegenerative disorder. Its most frequent subtype, the infantile form, is characterized by an early onset and a rapid neurological deterioration during the first months of life. Since the publication of cerebral radiological criteria in 2001, the disease has often been recognized by magnetic resonance imaging (MRI) findings.

Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1.

Faciogenital dysplasia or Aarskog-Scott syndrome (AAS) is an X-linked disorder characterized by craniofacial, skeletal, and urogenital malformations and short stature. Mutations in the only known causative gene FGD1 are found in about one-fifth of the cases with the clinical diagnosis of AAS. FGD1 is a guanine nucleotide exchange factor (GEF) that specifically activates the Rho GTPase Cdc42 via its RhoGEF domain.

[A new 2D and 3D imaging approach to musculoskeletal physiology and pathology with low-dose radiation and the standing position: the EOS system].

Close collaboration between multidisciplinary specialists (physicists, biomecanical engineers, medical radiologists and pediatric orthopedic surgeons) has led to the development of a new low-dose radiation device named EOS. EOS has three main advantages: The use of a gaseous X-ray detector, invented by Georges Charpak (Nobel Prizewinner 1992), the dose necessary to obtain a 2D image of the skeletal system has been reduced by 8 to 10 times, while that required to obtain a 3D reconstruction from CT slices has fallen by a factor of 800 to 1000. The accuracy of the 3D reconstruction obtained with EOS is as good as that obtained with CT.

Aortic dilatation in Turner syndrome: the role of MRI in early recognition.

Background: Aortic dilatation and dissection are rare but important complications of Turner syndrome that increase the risk of sudden death in young patients.

Objective: To assess the value of aortic MRI in patients with Turner syndrome; in particular to demonstrate early aortic dilatation.

Materials And Methods: A total of 21 patients with Turner syndrome underwent MRI of the thoracic aorta with measurement of vessel diameter at four levels.

MRI of the fetal posterior fossa.

MRI is a useful tool to complement US for imaging of the fetal posterior fossa (PF). In France, the discovery of a PF malformation in the fetus frequently leads to termination of pregnancy (80% in a personal series). However, despite improved accuracy in the diagnosis of PF abnormalities, prognosis remains uncertain.

Lacrimal location of sinus histiocytosis (Rosai-Dorfman-Destombes disease).

A 7-year-old West African male patient presented with recurrence of multiple cervical lymphadenopathy. Cervical node biopsy disclosed a sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman-Destombes disease). During follow-up, the patient developed a left orbital mass corresponding to an enlarged lacrimal gland shown by CT.