Calcification surrénale néonat tu penses à ?
WOLMAN : autosomal recessif, calcif bilat, hepatomegaly, splenomegaly and generalized lymphadenopathy
craniocynostose + fréquente
dolichocéphalie / scaphocéphalie : suture SAG
plagiocephalie position vs lambdoide
position : deplacement oreille antérieur, suture ouverte, bossing ipsilatéral frontal, aplatissement pariétooccipital
lambdoide : rare, deplace oreille post, bossing frontal controlatéral
yeux herloquin + syndactylie ?
APERTS : BRACHYCÉPHALIE (coronal) + cloverleaf + syndactyly + hypoplasie mastoïde
association : Plagiocépohalie lambdoide bilat
rhombencéphalosynapse
DDX MACROCÉPHALIE
· BESSI : benign elargmenet subarachnoide space in infancy (cause + commune en enfance)
· Canavan
· Alexander
· Hydrocéphalie congénitale
· Mucopolysaccharidose
· DIA/DIG
detresse respiratoire 1ere annee vie + GGO lingula et lobe moyen
Neuroendocrine cell hyperplasia of infancy
The most common features are ground glass opacification (GGO), most commonly affecting the right middle lobe and lingula, followed by a mosaic pattern of air trapping often involving multiple lobes. Other findings are less specific and include consolidation, hyperinflation, linear and reticular opacities, and bronchial wall thickening.
Hirayama disease
Aka Non progressive juvenile spinal muscular atrophy
ped, élargissement espace épidural postérieur cervicale avec compression moelle
necrosis of the anterior horns of the lower cervical cord
clinique : insidious onset of unilateral or asymmetric oblique amyotrophy that affects the C7, C8 and T1 myotome
chronic microcirculatory changes in the territory of the anterior spinal artery induced by repeated or sustained flexion account for the necrosis of the anterior horns of the lower cervical cord, which is the hallmark on pathology
ddx hemiatrophy en ped
JC-Royyy
hemifacial microsomia but this is congenital and essentially non-progressive condition (case)
post-traumatic atrophy and partial lipodystrophy (Barraquer-Simon Syndrome) are also included in the differential diagnosis. However, partial lipodystrophy is usually bilateral and involves primarily the adipose tissue
linear scleroderma (“en coup de sabre”)
Rasmussen encephalitis (RE)
Parry-Romberg syndrome (PRS), also known as progressive facial hemiatrophy (PFH), slow progressive degeneration (atrophy) of the soft tissues of half of the face (hemifacial atrophy). This involves the skin, underlying soft tissues, cartilaginous structures and bones.
large lésion expansile mandibule bilat, SOAP BUBBLE
chérubisme
scoliose : cause + commune ? cause plus commune scoliose douloureuse ?
idioapathique
osteome osteoide
btw: angle cobb > 10
manifestation MSK plus commune de NF1
scoliose
sense de l’ossification apophyse iliaque
outside to in (latéral en premier)
- permet estimer maturité squelettique
anomalie genetique la + commun associée holoprosencéphaliqe
PATAU (TRISOMIE 13)
synostose lambdoie le nom bilat
turricephalie (associé à
craniosynostose moins frequente
lambdoide (+ sag + coronal)
atteinte osseuse NF1
scoliose
dysplasie aile sphenoidal
défaut astérion
neurofibrome plexiforme
méningocele thoracique latéral
pseudo-arthrose tibial
ddx os wormian
P: pyknodysostosis autosomal récessif; otosclérose + petite taille
O: osteogenesis imperfecta ostéoporose, fx multiples + commun
R: rachitisme Fraying métaphyse + bowing os long, rosary sign
K: kinky hair syndrome (MENKES) lié à X, déficit cuivre, épron fémoral/tibial, élargissement métaphyse des fémurs/côtes
C: cleidocranial dysostosis hypoplasie/agénésie clavicules
H: hypothyroidie/hypophosphatase Fraying métaphyse + bowing os long
O: otopalatodigital syndrome
P: primary acro-osteolyse (Hajdu-Cheney)/pachydermoperiostosis/progeria
S: syndrome of Downs
quand cemer la cloche que marcage craniel sont pas physiologique
SI ATTEINTE ANTÉRIEUR
devrait etre plus isole en postérieur
CAUSE Os wormian pathologique plus commun
ostéogenese imperfecta
sinus pericranii
defaut crane + communication veine dural (surtout sag sup_ et veine extra cranienne
contexte clinique classique kyste leptomeningée
quelques mois POST TRAUMA, souvent fx crane avec déchirure leptomeningée
-> represente herniation foyer encephalomalacie a travers défaut cranien
signe abusive head trauma / trauma non accidentel NEURO en ped
hematome sous dural > epidural
hematome rétroclivale
thrombose cortical
hemorragie rtinienne
avc
oedème tissus mous
ddx absence septum pellucidum