American Journal of Medical Genetics 137A:110–111 (2005)

CorrespondenceArachnoidal Cyst, Orofacial Dysplasia, Poor Motor Control,and Severe Language Delay

To the Editor:

Arachnoidal cysts can be asymptomatic or symptomatic;variable in size; congenital or acquired secondary to trauma orinfection; and usually isolated rather than syndromic. Temporal

cysts occur more frequently, but no gender trends are found forcysts in other locations [Wester, 1999]. Speech and languagealterations occur with several conditions involving the centralnervous system and in some instances of arachnoidal cysts[Hund-Georgiadis et al., 2002; Wester and Hugdahl, 2003].

Here, we describe a girl with a large archnoidal cyst in thequadrigeminal cistern region, with involvement of the basalganglia, callosal area, and dorsal area of the cerebellum andvermis. Also present were severe developmental languagedisorder, orofacial dyspraxia, and poor motor coordination.Topography of these lesions suggests that the involved areasare crucial for the development of speech and language withdisruption of the surrounding structures, mainly the basalganglia, thalamus, and cerebellum.

Fig. 1. A: Proposita. B–D: MRI images showed a large cyst in the quadrigeminal cystern region involving mainly the pulvinar of the thalamus, mediallemniscus, and the dorsum of the cerebellum.

*Correspondence to: Dr. Antonio Richieri-Costa, Servico deGenetica Clınica, Hospital de Reabilitacao de Anomalias Cranio-faciais, Universidate de Sao Paulo, Bauru, Sao Paulo, Brazil.

Received 20 January 2004; Accepted 3 January 2005

DOI 10.1002/ajmg.a.30798

� 2005 Wiley-Liss, Inc.

The proposita was the second child of a 34-year-old G3P2A1

white woman and her unrelated 34-year-old husband. Preg-nancy was normal; no toxic, infectious, traumatic, or radio-graphic exposures were reported. At 5 years 2 months, weightwas 24.8 kg (>97th centile), height was 116 cm (90th centile),and OFC was 51.0 cm (50th centile). Neuropsychological andlanguage development were delayed and motor coordinationwas poor. Verbal communication was poor and, additionally, abehavioral disorder, hyperactivity, and tantrums were noted.Auditory and visual memory tasks were severely impaired,most likely resulting from the developmental language dis-order. IQ was 80. MRI showed a large cyst in the quadrigeminalcistern region mainly involving posterior basal ganglia, poster-ior thalamus, pulvinar of the thalamus, medial lemniscus,posterior commisure, splenium of the corpus callosum, and thedorsum of the cerebellum (Fig. 1).

Midline arachnoidal cysts are usually asymptomatic, butin some cases there may be increased intracranial pressure,Parinaud syndrome, vertigo, cerebellar deficits, and emoti-onal/behavioral disturbances [Fain et al., 1994; Fleege et al.,1994; Hardy, 1996; Barboriak et al., 2001]. Frontotemporalarachnoidal cysts usually result in speech and languagealteration [Millichap, 1997; Horiguchi and Takeshita, 2000;Stowe et al., 2000]. The patient reported here had a large cystin the quadrigeminal cistern region. Neuropsychologicaldevelopment, mainly cognitive function, was normal. Majorproblems in communication and behavior resulted from dis-turbance of speech and language. Several mechanisms can beresponsible: (a) involvement of the frontal-striatal system inspatial working memory, spatial recognition as well as motorinitiation and execution [Purcell et al., 1998], (b) cerebellarinvolvement in motor learning, processing, and programmingverbal fluency and sequential functions [Riva, 1998; Leggioet al., 2000], (c) involvement of the basal ganglia which re-gulate motor control, conferring human linguistic ability, andabstract reasoning [Lieberman, 2002], and (d) involvement ofthe splenial callosal area in dichotic listening as well as otherlanguage functions [Fabbro et al., 2002; Pollmann et al., 2002].Our study indicates that the lesions in our patient involveseveral structures responsible for integration in the in-formation-processing stream between cortico-subcortical areas.Some of these structures have been implicated in the expres-sion of theFOXP2 gene [Vargha-Khadem et al., 1998; Lai et al.,2003].

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A. Richieri-Costa*C.M. GiachetiD.V. AbramidesM.R. FenimanServico de Genetica ClınicaHospital de Reabilitacao

de Anomalias CraniofaciaisUniversidate de Sao PauloBauru, Sao Paulo, Brazil

C.G.R. BaldelinServico de RadiologiaUNIMAR, MarıliaSao Paulo, Brazil

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