Arima syndrome

Definition:

Arima syndrome (AS) is a rare autosomal recessive disease characterized by severe psychomotor retardation, dysmorphic face, nystagmus, retinopathy, cystic kidney disease, and brain malformation. AS shares clinical and neuroradiological features with Joubert syndrome and related disorders, that is called ciliopathy. On brain magnetic resonance imaging (MRI), AS shows characteristic anomalies of the brainstem and cerebellum, such as the molar tooth sign (deformity of the brainstem isthmus and superior cerebellar peduncles) and cerebellar vermis hypoplasia.

References:

[1]. Kan Takahashi, et al. Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma. Brain Dev. 2011 Apr;33(4):353-6. [Content Brief]

[2]. Masayuki Itoh, et al. Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis. Brain Dev. 2014 May;36(5):388-93. [Content Brief]

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