Macrocerebellum: Significance and Pathogenic Considerations

Poretti, Andrea; Mall, Volker; Smitka, Martin; Grunt, Sebastian; Risen, Sarah; Toelle, Sandra P.; Benson, Jane E.; Yoshida, Shoko; Jung, Nikolai H.; Tinschert, Sigrid; Neuhann, Teresa; Rauch, Anita; Steinlin, Maja; Meoded, Avner; Huisman, Thierry A. G. M.; Boltshauser, Eugen

doi:10.1007/s12311-012-0379-1

Cited by 25 publications

(30 citation statements)

References 27 publications

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“…Regarding the abnormal thickening of the cerebellar GM described by Poretti et al (2), in our cohort of patients the cerebellar GM was judged to be normal and the significance of this finding remains unclear. We believe that volumetric analysis with segmentation of the different components of the CB (grey matter, WM and liquor) could be useful to clarify the contribution of the cortical thickening to the macrocerebellum.…”

Section: Discussioncontrasting

confidence: 54%

“…Also in one of the subjects described by Poretti et al (2), the cerebral WM was reported as normal. So the presence of abnormal cerebral WM seems to be often, but not always, associated with macrocerebellum, while the presence of a certain degree of mental and motor delay is always present.…”

Section: Discussionmentioning

confidence: 81%

“…The evidence of cerebellar enlargement is a rare finding on imaging and is often associated with the presence of a definite syndromic condition (such as LhermitteDuclos syndrome, Sotos syndrome, Costello syndrome, Table 1 In the patients with qualitative diagnosis of cerebellar enlargement the ratios CB/STB and CB/WB are significantly higher in comparison with the same ratios in normal controls available in literature Alexander disease, Williams syndrome and fucosidosis) (2). On the other hand, cerebellar hypoplasia/atrophy is a more frequent finding in paediatric patients with genetic, metabolic, toxic or infective diseases that involve the central nervous system (2,16).…”

Section: Discussionmentioning

confidence: 94%

“…Poretti et al (2) described five patients with qualitative diagnosis of macrocerebellum (age range, 7-28 months) of which three (where 3D T1 sequence was available) had a volumetric analysis confirming the volumetric enlargement in comparison with age and gender matched controls. All the subjects in this study had abnormal muscular tone and mental delay, four had dysmorphic features and three also had abnormal ocular movements and seizures.…”

Section: Discussionmentioning

confidence: 99%

“…Macrocerebellum is an entity introduced by Bodensteiner et al in 1997 (1), described as an isolated and abnormal increase of the cerebellum (CB) size without morphological or signal abnormalities (2). An abnormal enlargement of the CB can be also seen in some well-known metabolic and genetic diseases or clinical syndromes such as Lhermitte-Duclos (3,4), Sotos syndrome (5), Costello syndrome (6), Williams syndrome (7), Alexander disease (8), mucopolysaccharidoses (9) Original Article Isolated macrocerebellum: description of six cases and literature review and fucosidosis (10).…”

Section: Introductionmentioning

confidence: 99%

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Isolated macrocerebellum: description of six cases and literature review

D’Arco

Ugga

Caranci

et al. 2016

Quant. Imaging Med. Surg.

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Background: Macrocerebellum is a rare entity described as an isolated and abnormal increase of the cerebellum (CB) size without morphological or signal abnormalities. There have been only eleven patients with macrocerebellum reported in the literature so far. Results and Discussion: Quantitative analysis confirmed an increased cerebellar volume relatively to the STB volume ("t": 6.9518; P<0.001) and to the WB ("t": 7.1415; P<0.001) volume in comparison to the normal controls available in literature. Clinical characteristics and other neuroradiological findings of the patients are described. We also describe the differential features between isolated macrocerebellum and other pathological conditions that are characterized by cerebellar enlargement such as Lhermitte-Duclos, Sotos syndrome, Costello syndrome, Williams syndrome, Alexander disease and fucosidosis. Furthermore a detailed literature review is provided. Macrocerebellum is always associated with an abnormal mental and motor development. Conclusion:Macrocerebellum is a neuroradiological entity that can be identified qualitatively and confirmed quantitatively through volumetric analysis. This is the largest cohort of patients with macrocerebellum described so far. The data available in literature on this entity show that macrocerebellum is not a specific disease but an epiphenomenon found in heterogeneous brain disorders.

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Section: Discussioncontrasting

confidence: 54%

Section: Discussionmentioning

confidence: 81%

Section: Discussionmentioning

confidence: 94%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Isolated macrocerebellum: description of six cases and literature review

D’Arco

Ugga

Caranci

et al. 2016

Quant. Imaging Med. Surg.

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Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1–q24.2 contiguous gene deletion

Seeley

Durham

Micale

et al. 2014

American J of Med Genetics Pt A

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Macrocerebellum is an extremely rare condition characterized by enlargement of the cerebellum with conservation of the overall shape and cytoarchitecture. Here, we report a child with a distinctive constellation of clinical features including macrocerebellum, epilepsy, apparent intellectual disability, dysautonomia, gut malrotation, and poor gut motility. Oligonucleotide chromosome microarray analysis identified a 16q24.1-q24.2 deletion that included four OMIM genes (FBXO31, MAP1LC3B, JPH3, and SLC7A5). Review of prior studies describing individuals with similar or overlapping16q24.1-q24.2 deletions identified no other reports of macrocerebellum. These observations highlight a potential genetic cause of this rare disorder and raise the possibility that one or more gene(s) in the 16q24.1-q24.2 interval regulate cerebellar development.

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Brain morphology in children with nevoid basal cell carcinoma syndrome

Shiohama

Fujii

Miyashita

et al. 2017

American J of Med Genetics Pt A

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Brain morphology is tightly regulated by diverse signaling pathways. Hedgehog signaling is a candidate pathway considered responsible for regulating brain morphology. Nevoid basal cell carcinoma syndrome (NBCCS), caused by a PTCH1 mutation in the hedgehog signaling pathway, occasionally exhibits macrocephaly and medulloblastoma. Although cerebellar enlargement occurs in ptch1 heterozygous-deficient mice, its impact on human brain development remains unknown. We investigated the brain morphological characteristics of children with NBCCS. We evaluated brain T1-weighted images from nine children with NBCCS and 15 age-matched normal control (NC) children (mean [standard deviation], 12.2 [2.8] vs. 11.6 [2.3] years old). The diameters of the cerebrum, corpus callosum, and brain stem and the cerebellar volume were compared using two-tailed t-tests with Welch's correction. The transverse diameters (150.4 [9.9] vs. 136.0 [5.5] mm, P = 0.002) and longitudinal diameters (165.4 [8.0] vs. 151.3 [8.7] mm, P = 0.0007) of the cerebrum, cross-sectional area of the cerebellar vermis (18.7 [2.6] vs. 11.8 [1.7] cm , P = 0.0001), and total volume of the cerebellar hemispheres (185.1 [13.0] vs. 131.9 [10.4] cm , P = 0.0001) were significantly larger in the children with NBCCS than in NC children. Thinning of the corpus callosum and ventricular enlargement were also confirmed in children with NBCCS. We demonstrate that, on examination of the brain morphology, an increase in the size of the cerebrum, cerebellum, and cerebral ventricles is revealed in children with NBCCS compared to NC children. This suggests that constitutively active hedgehog signaling affects human brain morphology and the PI3K/AKT and RAS/MAPK pathways.

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Macrocerebellum: Significance and Pathogenic Considerations

Cited by 25 publications

References 27 publications

Isolated macrocerebellum: description of six cases and literature review

Isolated macrocerebellum: description of six cases and literature review

Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1–q24.2 contiguous gene deletion

Brain morphology in children with nevoid basal cell carcinoma syndrome

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