Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.

Introduction: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare genetic disease associated with loss-of-function variations in the gene encoding the vitamin D-activating enzyme 1α-hydroxylase (CYP27B1). Phenotype-genotype correlation is unclear. Long-term outcome data are lacking.

Early Seizure Recurrence in Children Admitted for Nonfebrile Seizures in the Emergency Department: A Prospective Study.

Objective: This study was aimed to determine the rate, timing, and risk factors of acute recurrence of seizures in the children admitted for nonfebrile seizure in the emergency department (ED).

Methods: This multicenter prospective study was conducted in the ED of three hospitals. All consecutive visits of children aged 28 days to 15 years who attended the ED for a nonfebrile seizure for 1 year were included in the study and prospectively followed.

[Pyomyositis in children: Two cases of Staphylococcus aureus infection].

Pyomyositis is a term used to denote primary pyogenic infection of a skeletal muscle. It is a rare disease that was first described in immunodeficient patients living in tropical climates. Lately, however, cases involving healthy children have been described in temperate climates.

Benefits of rituximab as a second-line treatment for autoimmune haemolytic anaemia in children: a prospective French cohort study.

Childhood autoimmune haemolytic anaemia (AIHA) requires second-line immunosuppressive therapy in 30-50% of cases. It appears that rituximab is indicated in such circumstances. This prospective national study reports the practice, efficacy and tolerance of rituximab in children with isolated AIHA and AIHA in the setting of Evans syndrome (ES).

[Acute leukemia revealed by bone magnetic resonance imaging: Two pediatric case reports].

Bone and joint pain are common causes of pediatric consultation for a variety of etiologies. The causes are mostly traumatic or infectious or have an inflammatory origin. Acute leukemia (AL) can sometimes begin with osteoarticular signs and radiological investigations such as magnetic resonance imaging (MRI) can help guide the diagnosis.