M.G. Guadagni, A. Faggella, G. Piana, G. D’Alessandro not carry the defective gene. The prevalence is extremely low [Aicardi, 1998; Crow, 2002; Fishbach, 2002]. Speciala Care Unit, Dental Science Department, University of A significant number of Aicardi syndrome girls are of Bologna normal birth and of normal development until three months of age when infantile spasms begin. Infantile e-mail: [email protected] spasms are the first symptoms that urge the clinicians to prescribe further investigations [Prats Viñas, 2005]. Cerebral malformations like polimicrogyria, grey matter heterotopias, intraventricular cysts, poroencephalic cysts Aicardi syndrome: and chorid plexus papillomas coexist at times. Occasional finding are: abnormalities of ribs and spine, cleft palate a case report and ocular anomalies [Aicardi, 2005; Aicardi, 1998; Allison et al., 2004; Banerjee et al., 2006; Bastos et Borges, 2001; ABSTRACT Melbourne-Chambers et al., 2007; Rosser et al., 2001] Background Aicardi Syndrome is an X-linked autosomal (Table 1). Psychomotor retardation is usually severe; recessive neurodegenerative encephalopathy. The diagnostic neuromotor retardation is commonly present with lack of triad is composed by infantile spasms, agenesis of corpus motor and language skills [Rosser et al., 2002; Grosso et callosum and chorioretinal lacunae. Additional common al., 2007]. findings are: microencephaly, spasticity and severe mental American researchers have recently defined the typical delay. It affects only females because of early embryonic facial features of the affetcted females: prominent maxilla, lethality in males. A significant number of females with Aicardi upturned nasal tip, decreased angle of the nasal bridge, syndrome are of normal birth and develop normally until three sparse lateral eyebrows [Sutton et al., 2005]. months of age when infantile seizures begin. Psychomotor retardation is usually severe, neuromotor retardation is commonly present with lack of motor and language skills. Case report Literature reports only few information about the dentofacial features of the syndrome. Case report We present the case TB, born in 1998, showed agenesis of corpus callosus of a patient, by describing the dental and facial characteristics since the 6th week of pregnancy. After birth ocular with focus on dental prevention in order to avoid dental pain anomalies (bilateral ocular coloboma, chorioretinal and the risks connected to general anaesthesia, and ultimately lacunae), cerebral abnormalities (dysmorphic and enlarged for improving the quality of life. ventricles, asymmetry of the emispheres) and vertebral anomalies (butterfly shaped) were detected. Mental delay Key words: Aicardi Syndrome, main features, clinical is severe, general hypotonia and motor delay make findings, dental prevention walking unlikely to happen. She came to the Unit for Special Care Patients of the Dental School of the University of Bologna (Italy) at 4 years of age for dental evaluation because parents referred Introduction

Aicardi’s Syndrome is a severe autosomal recessive Classic Triad neurodegenerative encephalopathy identified in 1965 by Infantile spasms Jean Aicardi and described in literature since 1984 by Chorioretinal lacunae Aicardi and Goutières [Aicardi, 2005]. It is a rare genetic disease, 853 case are estimated in the US and over 4000 Agenesis of the corpus callosum (may be partial) worldwide [Kroner et al., 2008]; it is not inherited and New Major Features (present in most patients) happens by a new genetic change (de novo mutation) [Margaret et al., 2006]. Cortical malformations (mostly microgyria) The diagnosis is based on: microencephaly, spasticity, Periventricular and subcortical heterotopia severe mental delay and retinal lesions [Abdel-Salam et al., Cystis around the 3d ventricle and/or choroids plexuses 2004; Aicardi et al. 1965; Lanzi et al., 2002; Le Garrec et al., 2005]. Papillomas of choroids plexuses The disease is characterised by agenesis of the corpus Optic disc/nerve coloboma callosum, either partial or complete, associated with cerebral palsy, epileptic-like symptoms, and infantile spasm Supporting Features (present in some case) (a form of seizure). It only affects females because of early Vertebral and costal abnormalities embryonic lethality in males and, in very rare cases, males with Klinefelter syndrome (47, XXY). Microphtalmia and/or other eye abnormalities It has been hypothesised X-chromosome linked “Split brain” EEG (dissociated suppression-burst tracing) anomalies, but genetic researches have not yet identified Gross emispheric asymmetry the genes involved in the syndrome. Almost all of the cases are new mutations so sibling and other family members do TABLE 1 - Clinical findings in cases of Aicardi syndrome.

146 EUROPEAN JOURNAL OF PAEDIATRIC DENTISTRY • VOL. 11/3-2010 CASE REPORT: AICARDI SYNDROME frequent episodes of acute pain. not enough to execute correct X-rays to perform a skeletal The patient exhibited normal deciduous dentition (Fig. 1) evaluation and a proper orthodontic treatment plan. and showed occlusal decays on all molars and deep caries Her disruptive behaviour makes even conservative dental of the front upper and lower teeth. The diagnosis was ECC procedures and hygiene very difficult to perform. She was (Early Childhood Caries). She had drug-resistant seizures, prescribed antibiotic therapy (amoxicillin 50mg/kg/die for 5 and the administration of various medications made the days) to ease the infection, and then she underwent gingival aspect typical of a patients with antiepileptic pulpectomy of the upper incisors, and fillings of decayed drugs-induced overgrowth and inflammation (Fig. 2, 3.) pits of the deciduous molars. Tongue position was very low and swallowing reflex and The mother (the only caregivers accepted by the girl) was chewing were absent. She was fed a soft and semiliquid instructed on brushing technique with the aid of a mouth diet. prop, and was given dietary advices to avoid/reduce the The malocclusion was characterised by severe open bite caries risk. (only the four second deciduous molars are in occlusion) Periodic dental checkups were scheduled (every 3-6 and spacing of the upper and lower incisors because of the months) to perform professional hygiene procedures. low tongue position, narrow palate worsened by a sever Home hygiene maintenance is not easily perfomed by gingival overgrowth, lateral left scissorbite (Fig. 4). the parents because of the girl’s behaviour and because Because of the severe psychomotor impairment, she is parents are not confortable in using a mouth prop to keep on a wheelchair in a tilted-back position because she the arches open. cannot bear her own skull weight due to general muscle In November 2006 the patient came to our attention hypotonia. The posture of the head is hyperextended all and showed a severe erosive mucositis in the palatal area, the time and the mouth is always open, the open bite is secondary caries of the molar pits of the primary teeth and therefore worsened by the permanent mouth breathing a bite lesion of the cheek at the level ofg the scissor bite and the muscle hypotonia. Cooperation is very low and (Fig. 5).

FIG. 1 - Deformed panoramic X rays because of the disruptive FIG. 2 - Deep caries of the upper front teeth and gingival behaviour. Dental formula is according to age (4 y.) overgrowth.

FIG. 3 - Caries of the lower front teeth and low tongue FIG. 4 - Severe open bite and spacing of the upper and lower position. incisors because of the low tongue position, lateral left scissorbite.

The oral smear revealed a candida infection that was treated with Mycostatin per os for 7 days and conservative treatment were scheduled. We decided to treat the cheek lesion with an orthodontic appliance in order to correct the lingual inclination of the lower left molar. Some international papers have investigated the problems that Aicardi Syndrome girls may have in case of general anaesthesia. In fact severe generalized FIG. 5 - Narrow palate and severe mucositis. hypotrophia of subcutaneous tissues cause a difficult

EUROPEAN JOURNAL OF PAEDIATRIC DENTISTRY • VOL. 11/3-2010 147 GUADAGNI M.G. ET AL. venous access in the limbs, and severe vertebrae improve the quality of life of the girls affected by Aicardi malformation makes a caudal block impossible [Iacobucci Syndrome. et al., 2003]. Tongue hypotonia and consequently macroglossia can complicate the intubation procedures [Gooden at al., 2005]. References

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