Arq Neuropsiquiat r 2002;60(4):1008-1010
CHOROID PLEXUS PAPILLOM A AND
AICARDI SYNDROM E
Case report
Geraldo Pianet t i Filho
1, Luiz Fernando Fonseca
2, Márcia Crist ina da Silva
3ABSTRACT - A case of Aicardi syndrome associat ed w it h a choroid plexus papilloma of t he t hird and bot h lat eral vent ricles in a 15 mont hs old baby girl is repport ed. The t umor w as complet ely removed via t hree craniot omies. Report s of t he lit erat ure w it h t he associat ion of choroid plexus papilloma and Aicardi syndrome are rare. We suggest t hat children diagnosed w it h Aicardi syndrome should rout inely undergo imaging st udies of t he brain, such as comput ed t omography or magnet ic resonance.
KEY WORDS: Aicardi syndrome, choroid plexus papilloma, hydrocephalus, corpus callosum agenesis.
Papiloma do plexo coróideo e síndrome de Aicardi: relato de caso
RESUM O - Relat amos o caso de uma criança com 15 meses de idade, port adora da síndrome de Aicardi associada a tumores nos ventrículos laterais e terceiro ventrículo (papilomas) que foram retirados cirurgicamente at ravés de t rês craniot omias. A ocorrência de papiloma do plexo coróideo associada à sindrome de Aicardi é raram ent e descrit a na lit erat ura. Sugerim os que as crianças port adoras da síndrom e de Aicardi sejam rot ineirament e submet idas a est udo radiológico do encéfalo at ravés da t omografia comput adorizada ou ressonância nuclear.
PALAVRAS-CHAVE: síndrome de Aicardi, papiloma do plexo coróideo, hidrocefalia, agenesia do corpo caloso.
Pediat ric Neurosurgery Service, Hospit al São Francisco de Assis, Universidade Federal de M inas Gerais (UFM G), Belo Horizont e M G, Brazil: 1Associat e Professor, Facult y of M edicine, UFM G; 2Coordinat or, Residence of Pediat ric Neurology, Cent ro Geral de Pediat ria,
FHEM IG; 3Pediat ric Neurosurgery, Hospit al São Camilo.
Received 1 April 2002, received in final form 24 June 2002. Accept ed 10 July 2002.
Dr. Geraldo Pianet t i - Rua Aimorés 2480/902 – 30140-072 Belo Horizont e MG - Brasil.
Aicardi1 described a syndrome charact erizided by
corpus callosum agenesis, myoclonic seizures and visual dist urbances in 1965. Aft er t he original report , Aicardi (1986) described ot her changes t hat are usu-ally associat ed w it h t he clinical present at ion, such as skeletal malformation and development delay. This disease w as report ed only in girls. Since Aicardi des-cript ion1, several report s have included ot her
mani-fest at ions t o t he clinical pict ure, as cyt omegalic in-clusion2, scoliosis and hemivert ebrae3, cleft palat e4,
craniofacial asymmet ry5, hearing anomalies5, t umors
of t he cent ral nervous syst em (CNS)2-7, choroid plexus
cyst s7. The associat ion of Aicardi syndrome and
cho-roid plexus papilloma has been report ed in t he lit e-rat ure (t en cases having already been described2-7).
This associat ion is rare, nevert heless it may be regar-ded as an int egral part of t he disease2,3.
In t his paper w e present t he case of a child diag-nosed w it h Aicardi syndrome and choroid plexus pa-p illo m a in m u lt ipa-p le lo cat io n (lat eral an d t h ird vent ricles) t reat ed by several surgeries.
CASE
Baby girl LVD w as born in April 1994, at term by vaginal delivery, aft er a healt hy pregnancy. She w as t he second daughter of a young non-consanguineous couple, w ith no history of neurologic disorders. It w as already noted that she presented on strabismus, abnormal eye movements and seizures of the myoclonic type. A computed tomography (CT) show ed diffuse dilation of the ventricles (Fig 1). She w as partially controlled w ith anticonvulsivant drugs. On 15 m ont hs, it w as observed t hat t he head circum f erence increased beyond expectation. Another CT w as performed and the patient referred to the pediatric neurosurgery service w ith the diagnosis of congenital hydrocephalus.
re-Arq Neuropsiquiat r 2002;60(4) 1009
moval of t he lesion inside t he right lat eral vent ricle. One mont h lat er, she w as again operat ed on, a left pariet al craniot omy performed w it h radical excision of t he lesion inside t he left lat eral vent ricle. In Oct ober of t he same year, a right front al craniot omy w as performed and radi-cal removal of t he t hird vent ricle lesion w as achieved. It t urned out easier on account of t he corpus callosum age-nesis. The pat hological examinat ion alw ays disclosed cho-roid plexus papilloma. Vent ricular drainage w as necessary in December 1995 and a vent riculo-perit oneal shunt t hen w as insert ed. Follow -up in Oct ober 2001, six years aft er diagnosis, show ed a child w it h t he charact erist ic cognit ive deficit of Aicardi syndrome and good seizure cont rol w it h t he help of medicat ion.
DISCUSSION
It appears t hat t he Aicardi disease is a hamar-t oma5, as neurofibromat osis and t uberous sclerosis,
diseases t hat show a common associat ion of het e-rot opias and int racranial t umors5. The
clinical/radio-logical m anif est at ions of t he Aicardi syndrom e1,
init ially described as a t riad of infant ile spasms, t o-t al or paro-t ial agenesis of o-t he corpus callosum and ret inal changes, now include perivent ricular and subcort ical het erot opias, choroid plexus cyst s and t umors, colobomas, skelet al changes of vert ebrae and ribs, m icropht halm ia, cerebral hem ispheres asymmetry, cortical gyrus changes, tumors outside of CNS and cranialfacial alteration. A review of the lite-rature2-7 revealed ten cases in w hich the disease
ma-nifested in association w ith choroid plexus papilloma. These numbers should increase w hen children w ith Aicardi syndrome are routinely submitted to TC and/
Figs 2 and 3. Axial and sagittal T1 weighted MRI following gadolinium administration show the presence of tumoral lesions inside both late-ral and third ventricles, and agenesis of the corpus callosum. Fig 1. CT (w it hout cont rast ) performed at one mont h of age,
show ing ventricular dilation.
or M RI. The f indings m ay be incident al, w it h no manifestation of increased intracranial pressure.
The pat ient here report ed present ed seizures of difficult cont rol w it h medicat ion, development delay and clinical evidence of hydrocephalus. The diagnosis of t he t umors w as made only aft er M RI. In t he ma-jority of cases reporting association of Aicardi disease and choroid plexus papilloma, the tumor w as located in only one vent ricle2,4,6,7. Tackibana et al.3 described
a case in w hich t he t umors occupied t he right lat e-ral and t he t hird vent ricles. Hamano et al.5 report ed
1010 Arq Neuropsiquiat r 2002;60(4)
The case present ed here is apparent ly t he first one t o report a child w it h Aicardi disease and t umors in three ventricles (both lateral and third), that caused int racranial hypert ension and w ere t reat ed surgically w it h p at h o lo g ical d iag n o sis o f ch o ro id p lexu s papilloma. The pat ient is st ill alive, aft er more t han six years aft er t he diagnosis.
We conclude t hat all children w it h sym pt om s su g g est ive o f Aicard i d isease sh o u ld u n d erg o radiological st udies of t he brain, namely CT or M RI, an d h ave t h ei r i n t r acr an al p r essu r e cl i n i cal l y monitored to evaluated the need for surgical removal of t he lesions.
REFERENCES
1. A icardi J, Lefèbre J, Lerique-Koechlin. A new syndrome: spasm in flexion, callosal agenesis, ocular abnormalities. Electroencephalogr Clin Neurophysiol 1965;19(Suppl):609-610.
2. Aguiar MFM, Cavalcanti M, Barbosa H, Vilela SL, Mendonça JL, Horta E. Síndrome de Aicardi e papiloma do plexo coróide: uma associação rara. Arq Neuropsiquiatr 1996;54:313-317.
3. Tachibana H, Matsui A, Takeschita K, Tamai T. Aicardi’s syndrome with multiple papilloma of choroid plexus. Arch Neurol 1982;39:194. 4. Robinow M, Johnson F, Minella PA. Aicardi syndrome, papilloma of
the choroid plexus, cleft lip and cleft of the posterior palate. J Pediatr 1984;104:404-405.
5. Hamano K, Matsubara T, Shibata S, et al. Aicardi syndrome accompanied by auditory disturbance and multiple brain tumors. Brain Dev 1991;13:438-441. 6. Trifiletti RR, Incorpora G, Polizzi A, Cocuzza MD, Bolan EA, Parano E. Aicardi syndrome with multiple tumors: a case report with literature review. Brain Dev 1995;17:283-285.
