Arachnoidal cyst, orofacial dysplasia, poor motor control, and severe language delay

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

Correspondence Arachnoidal 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 or infection; and usually isolated rather than syndromic. Temporal

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

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

*Correspondence to: Dr. Antonio Richieri-Costa, Servic¸o de Gene´tica Clı´nica, Hospital de Reabilitac¸ao de Anomalias Craniofaciais, Universidate de Sao Paulo, Bauru, Sao Paulo, Brazil. Received 20 January 2004; Accepted 3 January 2005 DOI 10.1002/ajmg.a.30798

ß 2005 Wiley-Liss, Inc.

Here, we describe a girl with a large archnoidal cyst in the quadrigeminal cistern region, with involvement of the basal ganglia, callosal area, and dorsal area of the cerebellum and vermis. Also present were severe developmental language disorder, orofacial dyspraxia, and poor motor coordination. Topography of these lesions suggests that the involved areas are crucial for the development of speech and language with disruption of the surrounding structures, mainly the basal ganglia, thalamus, and cerebellum.

Arachnoidal Cyst

The proposita was the second child of a 34-year-old G3P2A1 white woman and her unrelated 34-year-old husband. Pregnancy was normal; no toxic, infectious, traumatic, or radiographic exposures were reported. At 5 years 2 months, weight was 24.8 kg (>97th centile), height was 116 cm (90th centile), and OFC was 51.0 cm (50th centile). Neuropsychological and language development were delayed and motor coordination was poor. Verbal communication was poor and, additionally, a behavioral disorder, hyperactivity, and tantrums were noted. Auditory and visual memory tasks were severely impaired, most likely resulting from the developmental language disorder. IQ was 80. MRI showed a large cyst in the quadrigeminal cistern region mainly involving posterior basal ganglia, posterior thalamus, pulvinar of the thalamus, medial lemniscus, posterior commisure, splenium of the corpus callosum, and the dorsum of the cerebellum (Fig. 1). Midline arachnoidal cysts are usually asymptomatic, but in some cases there may be increased intracranial pressure, Parinaud syndrome, vertigo, cerebellar deficits, and emotional/behavioral disturbances [Fain et al., 1994; Fleege et al., 1994; Hardy, 1996; Barboriak et al., 2001]. Frontotemporal arachnoidal cysts usually result in speech and language alteration [Millichap, 1997; Horiguchi and Takeshita, 2000; Stowe et al., 2000]. The patient reported here had a large cyst in the quadrigeminal cistern region. Neuropsychological development, mainly cognitive function, was normal. Major problems in communication and behavior resulted from disturbance of speech and language. Several mechanisms can be responsible: (a) involvement of the frontal-striatal system in spatial working memory, spatial recognition as well as motor initiation and execution [Purcell et al., 1998], (b) cerebellar involvement in motor learning, processing, and programming verbal fluency and sequential functions [Riva, 1998; Leggio et al., 2000], (c) involvement of the basal ganglia which regulate motor control, conferring human linguistic ability, and abstract reasoning [Lieberman, 2002], and (d) involvement of the splenial callosal area in dichotic listening as well as other language functions [Fabbro et al., 2002; Pollmann et al., 2002]. Our study indicates that the lesions in our patient involve several structures responsible for integration in the information-processing stream between cortico-subcortical areas. Some of these structures have been implicated in the expression of the FOXP2 gene [Vargha-Khadem et al., 1998; Lai et al., 2003]. REFERENCES Barboriak DP, Lee L, Provenzale JM. 2001. Serial MR imaging of the pineal cysts: Implications for natural history and follow-up. Am J Roentgenol 176:737–743. Fabbro F, Libera L, Tavano A. 2002. A callosal transfer deficit in children with developmental language disorder. Neuropsychologia 40:1541–1546. Fain JS, Tomlinson FH, Scheithauer BW, Parisi JE, Fletcher GP, Kelly PJ, Miller GM. 1994. Symptomatic glial cysts of the pineal gland. J Neurosurg 80:454–460. Fleege MA, Miller GM, Fletcher GP, Fain JS, Scheithauer BW. 1994. Benign glial cysts of the pineal gland: Unusual imaging characteristics with histologic correlation. Am J Neuroradiol 15:161–166.

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A. Richieri-Costa* C.M. Giacheti D.V. Abramides M.R. Feniman Servic¸o de Gene´tica Clı´nica Hospital de Reabilitac¸ao de Anomalias Craniofaciais Universidate de Sao Paulo Bauru, Sao Paulo, Brazil C.G.R. Baldelin Servic¸o de Radiologia UNIMAR, Marı´lia Sao Paulo, Brazil