494 Bnitish3Journal ofOphthalmology 1994; 78: 494-496

Aicardi syndrome the elusive mild case Br J Ophthalmol: first published as 10.1136/bjo.78.6.494 on 1 June 1994. Downloaded from

Allison V Menezes, Robert W Enzenauer, J Raymond Buncic

Aicardi syndrome is a severe congenital disorder the macula. Clinically, her vision appeared characterised by infantile spasms, chorioretinal normal as she seemed to fix on and follow objects lacunae, and agenesis ofthe . We well. present the case of a 10-year-old girl whose The pattern of the EEG recordings was symptoms included a poorly controlled abnormal, asymmetric with an epileptogenic disorder, typical lacunar retinopathy, partial focus in the left hemisphere and some seizure hypoplasia of the corpus callosum, and mild activity in both hemispheres. There was no developmental delay. This case alerts ophthal- serological evidence of metabolic or infectious mologists to the presence of a mild form of the disease. A computed tomography (CT) scan of typical Aicardi syndrome that can be diagnosed the head revealed mild asymmetric dilatation of by the characteristic chorioretinopathy. Our the ventricles and no evidence of tuberous patient's symptoms also raise important sclerosis. She was discharged with a diagnosis of questions about genetic counselling and other infantile spasms ofunknown cause. undiagnosed cases ofinfantile spasms. Over the next 5 years, her continued to occur once a day. Assessment at age 6 years showed significant developmental delay Case report functioning at a 31/2to 4 year age level. A 3-3 kg girl was born to healthy parents in the At age 10 years, she was re-evaluated at the 37th week of gestation. The infant had no HSC neurology clinic. Her seizures then occur- neonatal problems and appeared to develop red five to six times a day. Owing to her normally until 5 months of age. Two older inattentiveness, she was classified as a slow siblings were both healthy. learner at school. An EEG showed frequent Over the next few months, she developed spike activity in the left temporal lobe with infantile spasms, and the parents noted that her secondary generalisations, suggesting a partial development appeared to have stopped. At complex seizure disorder. A CT scan performed 8 months of age, she was admitted to The to rule out a focal lesion was thought to be within Hospital for Sick Children, Toronto, Ontario, normal limits (Fig 1A). Canada (HSC), for investigation. Neurological She was referred to the neuro-ophthalmology examination revealed normal (or slightly service at HSC for another evaluation because of decreased) muscle tone and normal deep tendon her history of retinal lesions. Her visual acuity reflexes. On ocular examination, she had was 20/400 in the right eye and 20/30 in the left http://bjo.bmj.com/ numerous yellow lesions in the fundi that spared eye. She had anisometropic hyperopia in the on September 27, 2021 by guest. Protected copyright.

Department of Ophthalmology, The Hospital for Sick Children, Toronto, Ontario, Canada A V Menezes R W Enzenauer J R Buncic Correspondence to: J R Buncic, MD, Eye Clinic, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Fig IA Fig IB Canada M5G 1X8. Figure 1 (A) Computed tomogram (CT) ofourpatient's head indicating no significant abnormality compared with (B) CTscan Accepted for publication ofthe head in a typical case ofAicardi syndrome. Note the parallel orientation ofthe ventricles indicating the absence ofcorpus 26 January 1994 callosum. Aicardi syndrome - the elusive mildcase 495 Br J Ophthalmol: first published as 10.1136/bjo.78.6.494 on 1 June 1994. Downloaded from

Fig 2A

Fig3A

Fig2B http://bjo.bmj.com/ Figure 2 (A) Mild chorioretinal lacunae evident in our patient, compared with (B) typical presentation of chorioretinal lacunae.

right eye, which probably resulted in her right

amblyopia. She was orthophoric and had a on September 27, 2021 by guest. Protected copyright. normal anterior segment examination. Examina- tion of the fundi revealed chorioretinal lacunae scattered around the posterior pole that were more marked in the left eye than the right eye Fig3B (Fig 2A) and did not involve the maculae. Optic Figure 3 (A)Magnetic resonance (MR) scan ofourpatient's nerves were normal. head indicating hypoplasia ofanterior corpus callosum (see arrow) compared with (B) MR scan ofthe head in a typical Based on these findings, the diagnosis of a case ofAicardi syndrome. Agenesis (almost total) ofcorpus variant or mild expression of Aicardi syndrome callosum. was considered. Since no clear abnormality of the corpus callosum was found on CT scan, a magnetic resonance (MR) scan was obtained. anomalies in our patient, although mild, support The MR scan did show hypoplasia ofthe anterior the diagnosis. The presence of mild develop- corpus callosum (Fig 3A). Vertebral column x mental delay corresponds with the mild expres- rays showed mild lumbar scoliosis and a hypo- sion ofthe other findings. plastic right 12th rib. The characteristic chorioretinal lacunae are unique to this syndrome and are therefore prob- ably pathognomonic of the disease.2 They are Comment usually multiple, rounded, unpigmented, yellow The combination offindings ofinfantile spasms, white lesions. Their size varies from one tenth to partial agenesis of the corpus callosum (Figs iB, three disc diameters, they are often clustered 3B), and typical chorioretinal lacunae (Fig 2B) in around the posterior pole, and are usually but a female child fulfils the diagnostic criteria for not always bilateral. Other ocular abnormalities, Aicardi syndrome.' Costovertebral anomalies as such as colobomas of the optic nerve (44%)2 and well as marked psychomotor retardation are microphthalmos (20%)2 have been described in common in these patients.2 The vertebral patients with Aicardi syndrome. 496 Menezes, Enzenauer, Buncic

In 1986, Chevrie and Aicardi reviewed 184 their mortality is probably high. However, cases of patients diagnosed with Aicardi syn- follow up has been limited. Our patient would drome and noted that others had described certainly be expected to have a much more

infantile spasms and typical lacunae in six girls favourable prognosis. Her biggest handicap Br J Ophthalmol: first published as 10.1136/bjo.78.6.494 on 1 June 1994. Downloaded from whose corpus callosum appeared normal from a appears to be her developmental delay of 4 to 5 CT scan.2 Because magnetic resonance imaging years and her marked inattentiveness. (MRI) was not available to illustrate accurately The genetic component of the disease will the corpus callosum, they were not able to become an important issue should she have differentiate among a true mild expression of the children of her own in the future, if she is indeed syndrome (with partial agenesis of the corpus fertile. If Aicardi syndrome is an X linked callosum), an incomplete form of the syndrome dominant disease, as is thought to be the case,3 (normal corpus callosum), or a different syn- 50% of her offspring could be expected to carry drome altogether. The MR scan, in our case the abnormal . At present, showing partial agenesis of the corpus callosum, genetic studies for our patient are not available, confirms the diagnosis of a mild expression of so we have no way of knowing whether she is an Aicardi syndrome. example of incomplete penetration or whether However, two questions arise. The first is her genetic defect is an atypical one. We there- whether the lesions, though mild and sparse, do fore cannot predict the effect of her disease on in fact signal the presence of Aicardi syndrome. her offspring. Our patient has been reviewed by several The triad of typical chorioretinal lacunae, paediatric ophthalmologists; we are convinced infantile spasms, and hypoplasia of the corpus that her lesions are a mild expression of the callosum in a girl with only mild developmental lesions characteristic of the syndrome. The delay has led us to a diagnosis of a mild expres- second is the partial agenesis of the corpus sion of Aicardi syndrome. It is important that callosum. The corpus callosum normally ophthalmologists be aware of the existence of develops from the anterior to posterior direction. these mild cases since they are the ones which can In our case, therefore, hypoplasia of the anterior secure the diagnosis by identifying the chorio- corpus callosum with a normal posterior section, retinal lesions pathognomonic of Aicardi suggests that the corpus callosum initially syndrome. developed and then regressed. However, there of focal cerebral atrophy. was no other evidence This paper was prepared with the assistance of Medical Publica- Since the exact nature of the corpus callosum tions, The Hospital for Sick Children, Toronto, Ontario, Canada. malformation in the syndrome remains unclear, the atypical nature of our patient's corpus 1 Aicardi J, Lefebvre J, Lerique-Koechlin A. A new syndrome: callosum does not rule out the diagnosis of spasms in flexion, callosal agenesis, ocular abnormalities. Aicardi syndrome. Electroencephalogr Clin Neurophysiol 1965; 19: 609-10. 2 Chevrie JJ, Aicardi J. The Aicardi syndrome. In: Pedley TA, The prognosis is generally poor for children Meldrum BS, eds. Recent advances in epilepsy. Vol 3. with the typical Aicardi syndrome. Although Edinburgh: Churchill Livingstone, 1986: 189-210. 3 Neidich JA, Nussbaum RL, Packer RJ, Emanuel BS, Puck JM. http://bjo.bmj.com/ some degree ofvision is present in most patients, Heterogeneity of clinical severity and molecular lesions in psychomotor retardation is usually severe, and Aicardi syndrome. J Pediatr 1990; 116: 911-7. on September 27, 2021 by guest. Protected copyright. British Journal ofOphthalmology 1994; 78: 496-497 Elevation of the right ptotic eyelid with clenching the teeth

Hiroko Kurome, Seiji Hayasaka

The jaw-winking phenomenon of Marcus Gunn patient was born after an uneventful delivery Department of is typically seen as a retraction of one upper on 6 August 1987. Her mother reported that Ophthalmology, Shimane eyelid on opening the jaw or moving it to fhe side the pregnancy also had been uneventful. The Medical University, 1-3 Japan opposite the affected eye. Elevation of a ptotic patient's paradoxical eyelid retraction was first H Kurome eyelid with clenching of the teeth, however, may noticed at age 7 months; the condition has S Hayasaka be uncommon.3 We recently examined a patient appeared unchanged since then. She has been Correspondence to: with such a rare condition. treated for atopic dermatitis since she was 4 years Hiroko Kurome, MD, Department of of age. No trauma to the face or eyes has been Ophthalmology, Shimane noted. Her family history was non-contributory. Medical University, Izumo, Shimane, 693, Japan. Case report On examination, the patient's visual acuity Accepted for publication A 5-year-old girl was seen at our clinic with an was 1-2 in both eyes. The eye positions 1 February 1994 unusual eyelid retraction in April 1993. The were orthophoric, and the eye movements were