Monique Elmaleh-Bergès

Non-atheromatous arterial stenoses in atypical haemolytic uraemic syndrome associated with complement dysregulation

BACKGROUND A child, who presented atypical haemolytic uraemic syndrome (aHUS) at the age of 1 month, developed cerebral ischaemic events at the age of 10 years. RESULTS Stenoses of both carotid arteries, left subclavian and vertebral arteries, several intracranial, right humeral, several coronary, and all pulmonary arteries were demonstrated. At the age of 13 years, left subclavian and right cervical carotid arteries were occluded. Right carotid recanalization induced intracranial dissection and death. The child had a Lys350Asp factor B mutation. CONCLUSION Arterial steno-occlusive lesions appear as potential complications of dysregulated complement activation in aHUS. Endovascular treatment should be considered cautiously in this setting.

Severe Snoring in a Child With Pycnodysostosis Treated With a Bilateral Rib Graft

Pycnodysostosis is a rare osteopetrotic disorder. This report describes a case of a 3½-year-old boy with pycnodysostosis who presented with severe snoring. The snoring was the result of a pharyngeal narrowing due to a hypoplastic mandible. Surgery consisted of a bilateral rib graft, which allowed an enlargement of the pharynx by acting both on an anterior projection of the chin and a decrease of the glossoptosis. A significant reduction of the snoring and an excellent mouth aperture were obtained. This technique is ideal for such patients presenting a high risk of infection, nonunion, and secondary fracture.

Subperiosteal orbital abscess: volumetric criteria for surgical drainage

OBJECTIVE To investigate predictive factors of surgical management of subperiosteal orbital abscess in children. METHODS A retrospective monocentric study was conducted between 2000 and 2011 with children hospitalized for acute pediatric orbital cellulitis (APOC). Clinical, biological and radiological data as well as medical and surgical management were collected and analyzed. All patients received intravenous antibiotics and underwent a CT-scan. Orbit and subperiosteal intraorbital abscess dimensions were measured on axial and coronal planes and the abscess volume was calculated using a spheroid model. RESULTS Eighty-three children with APOC (mean age: 4.5 years) were included, 53 were boys (63.9%). Thirty-two children (38.6%) presented with a subperiosteal orbital abscess. Mean abscess volume was 570mm(3) and mean exophthalmos was 4.7mm. Twenty patients were treated surgically, 11 of which by an endoscopic approach. A positive correlation was observed between the volume of the abscess or exophthalmos and surgical drainage: 57.9% of patients underwent surgery when exophthalmos was >4mm, 29.4% between 2 and 4mm, and none when <2mm. All patients with an abscess volume >500mm(3) or >5% of orbital volume were operated on whereas only 30% or 39% of patients, respectively, in case of smaller volumes (P<0.05). CONCLUSION Surgery for subperiosteal orbital abscess is usually performed in case of visual complications or unfavorable medical outcome. The importance of the exophthalmos and the volume of the abscess measured on the CT-scan are predictive factors of surgery in children with subperiosteal orbital abscess without visual complications.

Le sourd est un enfant : qu’est-ce que ça change

Resume Comme pour tout organe chez l’enfant, l’oreille a des particularites anatomiques, un eventail de pathologies, differentes de celles de l’adulte. L’imagerie (TDM, IRM) traduit cette variabilite. Le but de ce travail est de montrer les particularites de l’imagerie de l’oreille en croissance. Le developpement de la pneumatisation mastoidienne a lieu en majeure partie apres la naissance, et, est directement influence par les atteintes otitiques iteratives dans l’enfance. Les etiologies les plus frequentes des surdites de l’enfant seront rappelees, en soulignant les differences liees a la presentation clinique, aux aspects radiologiques et a la prise en charge. Chez l’enfant, les surdites de transmission a tympan normal doivent faire rechercher une aplasie mineure (et non une otospongiose). Les surdites de perception, meme unilaterales, reconnaissent plus frequemment une cause malformative ou infectieuse que tumorale.

Is fetal cerebral MRI worthwhile in antenatally diagnosed isolated cleft lip with or without palate

This study aims to evaluate the use of fetal brain magnetic resonance imaging (MRI) following an antenatal sonographic diagnosis of isolated cleft lip with or without cleft palate (CL/P).

Pericallosal lipoma and middle cerebral artery aneurysm: a coincidence?

Intracranial lipomas are rare congenital malformations that can often be seen in association with other brain malformations; agenesis or dysgenesis of the corpus callosum is the most frequently associated brain anomaly. They are usually pericallosal asymptomatic midline lesions. Intracranial lipomas associated with a non-contiguous cerebral aneurysm are extremely rare. We report an infant with partial agenesis of the corpus callosum and pericallosal lipoma associated with cerebral haemorrhage due to a distal middle cerebral artery aneurysm. Such an association is probably not fortuitous and could suggest a pathogenic relationship.

Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type

Acid sphingomyelinase (ASM) deficient Niemann-Pick disease is a lysosomal storage disorder resulting from mutations in the SMPD1 gene. The clinical spectrum distinguishes a severe infantile neurological form (type A), a non-neurological visceral form (type B) and a rare intermediate neurovisceral form. We report the first case of presymptomatic cord blood transplantation in a child with the intermediate type of ASM deficiency due to a homozygous Tyr369Cys mutation, whose affected elder brother had developed neurodevelopmental delay from 19 months of age, and had died from severe visceral complications at the age of 3. In the transplanted propositus, neurological deterioration became evident by 4 years of age; the child was alive at age 8, although severely disabled. Whereas the transplant prevented visceral progression and early death, it could only delay neurocognitive deterioration.

Particularites pediatriques des infections cervico-faciales

Objectifs Connaitre les indications, les techniques et les protocoles d’imagerie devant une infection cervicale en pediatrie. Savoir evoquer une anomalie congenitale devant une infection cervicale chez l’enfant. Connaitre les indications de l’imagerie des sinus dans la pathologie infectieuse de l’enfant. Savoir explorer les complications aigues des otites chez l’enfant. Messages a retenir L’irradiation delivree par le scanner realise avec injection d’emblee doit etre minimale chez l’enfant. Les malformations cervicales peuvent se reveler uniquement lors d’un episode infectieux. En cas d’ethmoidite aigue, l’imagerie est realisee si doute clinique ou suspicion de complication. Les mastoidites aigues necessitent une imagerie systematique afin de rechercher les complications endocrâniennes. Resume En urgence, l’echographie cervicale permet d’orienter la prise en charge et de detecter une malformation congenitale sous-jacente : mediane (kyste du tractus threoglosse et kystes dermoides) ou laterale (plus frequemment les kystes du second arc). Le scanner helicoidal avec injection biphasique de contraste est indique en cas d’infection profonde. Le scanner injecte, suivi ou non d’une IRM, detecte les complications d’une ethmoidite aigue (intra-orbitaire : abces, cellulite ou intra-crânienne : vasculaire, empyeme) ou d’une mastoidite aigue (complications dans 10% des cas : abces, thrombose vasculaire, meningite, osteomyelite).

5227 Conclusion : etude de cas cliniques

Objectifs pedagogiques Illustrer par un cas clinique demonstratif chacun des cadres pathologiques presentes lors des cours precedents. Presenter les images correspondant aux cas proposes avant la seance. Exposer chaque cas conjointement par un radiologue et un otologiste et discuter chaque cas de maniere interactive avec les participants.