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. 2010 Oct;31(9):1619-22.
doi: 10.3174/ajnr.A2173. Epub 2010 Jul 1.

Neuroradiologic features of CASK mutations

J Takanashi  1 , H Arai, S Nabatame, S Hirai, S Hayashi, J Inazawa, N Okamoto, A J Barkovich
Affiliations

Neuroradiologic features of CASK mutations

J Takanashi et al. AJNR Am J Neuroradiol. 2010 Oct.

Abstract

Mutations of the CASK gene are associated with X-linked mental retardation with microcephaly and disproportionate brain stem and cerebellar hypoplasia in females. The areas of the cerebrum, corpus callosum, pons, midbrain, and cerebellar vermis and hemisphere and a ratio of cerebrum/corpus callosum areas were measured in 5 female patients with CASK mutations, 67 female controls, and 5 patients with pontine hypoplasia. MR imaging in patients with CASK mutations revealed a normal size of the corpus callosum and a low ratio of the cerebrum/corpus callosum with a reduced area of the cerebrum, pons, midbrain, and cerebellar vermis and hemispheres. The 5 patients with pontine hypoplasia showed thinning of the corpus callosum and a high ratio of the cerebrum/corpus callosum, irrespective of the size of the cerebrum. The normal size of the corpus callosum, which gives an impression of callosal thickening at first glance, may be an imaging clue to detect patients with CASK mutations.

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Figures

Fig 1.
Fig 1.
MR imaging of a 3-year-old girl with febrile seizures showing (outlined in white) areas for the cerebrum on a transverse image (A); corpus callosum, pons, midbrain tegmentum, and cerebellar vermis on the sagittal image (B); and the right cerebellar hemisphere on the coronal image (C).
Fig 2.
Fig 2.
Comparison of sagittal images. A, T1-weighted sagittal image of a 28-month-old control girl. B, T1-weighted sagittal image of a 24-month-old girl with CASK mutations. Note the hypoplastic pons, midbrain tegmentum, and cerebellar vermis with normal appearance of the corpus callosum. C, Sagittal T1-weighted image of a 16-month-old patient with PEHO syndrome shows hypoplasia of all visible structures.
Fig 3.
Fig 3.
Longitudinal changes of the area of the cerebrum (A), corpus callosum (B), midbrain tegmentum (D), pons (E), cerebellar vermis (F), cerebellar hemisphere (G), and ratio of the cerebrum/corpus callosum (C). Blue diamonds represent control patients, pink squares represent patients with CASK mutations, yellow triangles represent the patient with PEHO syndrome, and the red x represents the patients with other midbrain-hindbrain malformations. Logarithmic regression curve for the controls in the cerebrum, y = 1724.9ln(x) + 8257.4, R2 = 0.9107; corpus callosum, y = 80.147ln(x) + 135.4, R2 = 0.7994; midbrain tegmentum, y = 13.453ln(x) + 84.366, R2 = 0.7699; pons, y = 47.994ln(x) + 213.9, R2 = 0.9078; vermis, y = 105.26ln(x) + 488.7, R2 = 0.7603; cerebellar hemisphere, y = 219.78ln(x) + 642.89, R2 = 0.8828; and ratio of cerebrum/corpus callosum, y = −4.595ln(x) + 51.9, R2 = 0.5375.
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