PMID- 20378176
OWN - NLM
STAT- MEDLINE
DCOM- 20110121
LR  - 20220309
IS  - 0150-9861 (Print)
IS  - 0150-9861 (Linking)
VI  - 37
IP  - 4
DP  - 2010 Oct
TI  - Posterior fossa imaging in 158 children with ataxia.
PG  - 220-30
LID - 10.1016/j.neurad.2009.12.009 [doi]
AB  - OBJECTIFS: To propose a MRI cerebellar algorithm that may be applied to guide 
      genetic/malformative or biochemical investigations for patients with cerebellar 
      ataxia. PATIENTS AND METHODS: Cerebral MRI of 158 patients with cerebellar ataxia 
      and no supratentorial abnormality were examined according to a new categorization 
      system based on posterior fossa imaging. The clinical and radiological findings 
      were confronted to biochemical and/or genetic results using the MR cerebellar 
      algorithm. Seven groups of cerebellar MRI pattern were described: vermian 
      dysgenesis (n=27), cerebellar hypoplasia (n=15), hemispheric cerebellar 
      dysgenesis (n=6), unilateral hemispheric atrophy (n=5), global cerebellar atrophy 
      (n=84), signal abnormalities (n=11) and normal MRI (n=10). Cerebellar hypoplasia, 
      vermian dysgenesis and hemispheric cerebellar dysgenesis groups were classified 
      as malformative disorders. Global atrophy and signal abnormality groups were 
      classified as metabolic disorders. RESULTS: In the vermian dysgenesis group, a 
      specific genetic diagnosis was obtained in eight children (8/27) and all of the 
      mutated genes (AHI1 (JBS3), CEP290 (JBS5), TMEM67 (JBS6), and RPGRIP1L (JBS7)) 
      are involved in primary cilia function. In the group of pontocerebellar 
      hypoplasia specific genetic diagnosis was obtained in one patient (PCH2) (1/15). 
      Thus, nine of 42 children classified as malformative disorder had a molecular 
      diagnosis. Global atrophy and signal abnormality groups were classified as 
      metabolic disorders, specific biochemical was obtained in 46/95 children. In 
      global atrophy group, respiratory chain deficiency was diagnosed in 18 children 
      (18/84). In 21 children a congenital disorders of glycosylation type 1a (CDG Ia) 
      was diagnosed (21/84) and infantile neuroaxonale dystrophy (INAD) was diagnosed 
      in one child. In signal abnormalities group, specific biochemical diagnosis was 
      obtained in six out of 11 children, five children with respiratory chain 
      deficiency and one child with sulphite oxidase deficiency. In hemispheric 
      cerebellar dysgenesis and normal MRI groups, no biological diagnosis was found 
      for any of the patients. In the group of unilateral hemispheric atrophy, we 
      hypothesized a clastic prenatal injury. CONCLUSION: The proposed MR cerebellar 
      algorithm was useful to guide genetic/malformative or biochemical investigations, 
      allowing an etiological diagnosis in 55 children.
CI  - Copyright (c) 2010 Elsevier Masson SAS. All rights reserved.
FAU - Boddaert, N
AU  - Boddaert N
AD  - Service de radiologie pediatrique, hopital Necker-Enfants-Malades, AP-HP, 
      Paris-V, Paris, France. nathalie.boddaert@nck.aphp.fr
FAU - Desguerre, I
AU  - Desguerre I
FAU - Bahi-Buisson, N
AU  - Bahi-Buisson N
FAU - Romano, S
AU  - Romano S
FAU - Valayannopoulos, V
AU  - Valayannopoulos V
FAU - Saillour, Y
AU  - Saillour Y
FAU - Seidenwurm, D
AU  - Seidenwurm D
FAU - Grevent, D
AU  - Grevent D
FAU - Berteloot, L
AU  - Berteloot L
FAU - Lebre, A-S
AU  - Lebre AS
FAU - Zilbovicius, M
AU  - Zilbovicius M
FAU - Puget, S
AU  - Puget S
FAU - Salomon, R
AU  - Salomon R
FAU - Attie-Bitach, T
AU  - Attie-Bitach T
FAU - Munnich, A
AU  - Munnich A
FAU - Brunelle, F
AU  - Brunelle F
FAU - de Lonlay, P
AU  - de Lonlay P
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20100407
PL  - France
TA  - J Neuroradiol
JT  - Journal of neuroradiology = Journal de neuroradiologie
JID - 7705086
SB  - IM
MH  - Adolescent
MH  - Algorithms
MH  - Cerebellar Ataxia/*pathology
MH  - Cerebellum/abnormalities/*pathology
MH  - Child
MH  - Child, Preschool
MH  - Cranial Fossa, Posterior/abnormalities/*pathology
MH  - Female
MH  - Humans
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Patient Selection
EDAT- 2010/04/10 06:00
MHDA- 2011/01/22 06:00
CRDT- 2010/04/10 06:00
PHST- 2009/11/19 00:00 [received]
PHST- 2009/12/24 00:00 [revised]
PHST- 2009/12/29 00:00 [accepted]
PHST- 2010/04/10 06:00 [entrez]
PHST- 2010/04/10 06:00 [pubmed]
PHST- 2011/01/22 06:00 [medline]
AID - S0150-9861(10)00055-6 [pii]
AID - 10.1016/j.neurad.2009.12.009 [doi]
PST - ppublish
SO  - J Neuroradiol. 2010 Oct;37(4):220-30. doi: 10.1016/j.neurad.2009.12.009. Epub 
      2010 Apr 7.