[Vascular calcification in pseudoxanthoma elasticum in children]. / Calcifications vasculaires dans le pseudoxanthome élastique chez l'enfant.

INTRODUCTION: Vascular calcifications are associated with several diseases that affect vascular connective tissue and skin and cause considerable morbidity and mortality. The prototype of these conditions is pseudoxanthoma elasticum. We report, in this study, 4 pediatric cases of vascular calcifications diagnosed as elastic pseudoxanthoma. OBSERVATIONS: These 4 children were 2-11 years old and presented variable clinical features. Vascular involvement and arterial hypertension was observed in all patients, skin involvement in 2 cases, gastrointestinal involvement in 2 cases, neurological impairment in one case, and cardiac involvement in one case. Demonstration of ABCC6 gene mutations provided diagnostic confirmation in all cases. CONCLUSION: Pseudoxanthoma elasticum is a rare genetic disease, which can lead to many complications. Appropriate knowledge and early diagnosis are essential.

[Pseudoxanthoma elasticum: A rare cause of gastrointestinal bleeding in children]. / Pseudo-xanthome élastique : une cause rare d'hémorragies digestives chez l'enfant.

INTRODUCTION: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive connective tissue disorder, characterized by calcification and progressive fragmentation of elastic fibers. Gastrointestinal lesions are rare in children and may be responsible for serious complications. This article reports two pediatric cases of PXE revealed by gastrointestinal bleeding. CASE REPORTS: An 11-year-old boy and a 12-year-old girl were hospitalized for gastrointestinal bleeding. Digestive endoscopy showed hemorrhagic gastroenteritis bulbitis in the first case and it was normal in the second. Abdominal ultrasound showed diffuse linear calcifications in both cases. The diagnosis of PXE was retained based on the presence of vascular disease in both patients, a skin lesion in the girl, and an ocular lesion in the boy. The genetic study confirmed the diagnosis of PXE identifying two ABCC6 mutations in the composite state in the boy: the c.2263G> A (p.G755R) mutation on exon 18 and the c.3421C> T (pR1141X) mutation on exon 24 and the 4021G> A (R1164Q) mutation in the homozygous state of ABCC6 exon 24 in the girl. CONCLUSION: Digestive manifestations are unusual ; however, pseudoxanthoma elasticum should be considered in all cases of gastrointestinal bleeding for no apparent reason. Early diagnosis allows prevention and measures to control the risk factors and limit the progression of complications.

[Klippel-Trenaunay syndrome associated with hemimegalencephaly]. / Syndrome de Klippel-Trenaunay associé à une hémimégalencéphalie.

Klippel-Trenaunay syndrome (KTS) is a rare, complex congenital vascular malformation. This neurocutaneous syndrome can be associated with brain malformations. We report a case involving Klippel-Trenaunay syndrome and hemimegalencephaly in a 3-year-old child revealed by epileptic encephalopathy. We discuss the clinical features and the contribution of imaging in this association.

[A malformation to know: os odontoideum. Report on two pediatric cases]. / Une malformation à connaître : l'os odontoideum. À propos de deux cas pédiatriques.

The os odontoideum, or mobile odontoid apophysis, is a malformation of the cervico-occipital hinge caused by missing unity in the ossification center of the dens on the body of the axis. This malformation induces atloaxial instability and exposes the subject to the risk of bulbar-medullary compression. The true incidence of this condition is difficult to determine because many cases are asymptomatic. The pathogenesis is discussed. Congenital and traumatic theories have been advanced. Clinically, the defect can be discovered incidentally or revealed by neck pain, a stiff neck, dizziness, or deficient syndrome. CT and MRI imaging can detect the defects, and allow one to study the impact on the contents of the spinal canal and detect lesions. We report two new os odontoideum observations in children aged 5 and 14 years who were referred for equilibrium disorders and tetraparesis, respectively.

[Renal candidal bezoar: case report and review of the literature]. / Un cas de bézoard candidosique rénal.

Candida infection is a relatively common hematogenous nosocomial infection in immunocompromised patients. However, renal disease remains unusual. The mode of presentation in the case reported herein was lumbar pain with fever and hydronephrosis of the left kidney due to a fungal bezoar in the renal pelvis. Clinical and biological suspicion of this disease must quickly lead to ultrasound examination to confirm the diagnosis.

[Typical form of Mayer-Rokitansky-Küster-Hauser syndrome and ectopic kidney. A rare association]. / Forme typique du syndrome de Mayer-Rokitansky-Küster-Hauser et rein ectopique : association rare.

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a spectrum of Müllerian anomalies characterized by congenital vaginal aplasia and absent uterus or a rudimentary one in female subjects with normal endocrine status. The ovaries and fallopian tubes are present. The prime feature is a primary amenorrhea in women presenting normally developed secondary sexual characteristics and normal external genitalia. The etiology remains unknown. This syndrome is subdivided in two types. It may be isolated (type I) or associated with other malformations (type II). Type I is less frequent than type II. We report a case of MRKH syndrome in a 21-year-old woman who presented a primary amenorrhea studied with transabdominal and pelvic ultrasonography and pelvic magnetic resonance, which demonstrated a complete agenesis of uterus, a functional cyst in the right ovary, and a left pelvic ectopic kidney. We studied the MRKH syndrome with review of the literature.

[Imaging features of neurofibromatosis involving the urinary bladder]. / Imagerie de la neurofibromatose vésicale.

Neurofibromatosis type 1 is a phacomatosis with neurocutaneous involvement. Urinary bladder involvement is rare and the imaging features are seldom reported. Involvement of the urinary bladder may be isolated or associated with more diffuse disease. The imaging features of neurofibromas are fairly characteristic and may often suggest the correct diagnosis, especially in patients with known NF1. We report the imaging features of bladder involvement in 3 patients with known NF1.