Aicardi Syndrome With Favorable Outcome Case Report and Review
Aicardi syndrome is a rare congenital disorder that was starting time described by a French neurologist, Jean Aicardi in 1965.[1] Information technology is characterized past a classic triad of agenesis or hypogenesis of the corpus callosum, infantile spasms and chorioretinal lacunae. It is a 10-linked disorder and is seen nearly exclusively in females. Nosotros report a case of this rare disorder.
Example Report
A three-month-old female child was referred to our hospital for evaluation of credible blindness. In that location was history of frequent episodes of flexor spasms with twitching of both eyes since one and a half months of historic period. Each episode recurred nearly five to half dozen times per day associated with drooling of saliva. According to the parents, the child never turned towards light or sound. She was a second child built-in to a not-consanguineous marriage. It was a full-term normal delivery. There was no history of jaundice, fever or earthquake in the firsthand neonatal period.
On exam, there was global developmental delay. The head circumference was in 10th percentile. On ophthalmic examination the child was neither responding to nor following bright low-cal. Both the pupils were very sluggish in reaction. Anterior segments of both optics were normal. The vitreous was clear and normal in both eyes. Fundus examination revealed bilateral optic nervus colobomas with variable-sized discrete dome-shaped loci of pale areas with sharp borders (chorioretinal lacunae) but nasal to the optic discs [Fig. 1a, 1b]. The fovea was spared in both the eyes.
Retcam photograph of right eye shows optic disc coloboma (blackness arrow) and dome shaped loci of stake areas with sharp borders nasal to the optic disc suggestive of chorio retinal lacunae (white arrows).
Retcam photograph to left eye showing also showing optic disc coloboma (black arrow) and chorio retinal lacunae nasal to optic disc (white arrow).
Equally the kid had seizures, electroencephalography (EEG) was done by the neurologist. EEG showed flare-up of spike, polyspike, sharp and slow-wave complexes with suppression in between, predominantly over the right hemisphere. Bilateral synchronous and symmetrical discharges were also present along with slow waves of loftier amplitudes that were seen more on the right hemisphere. Thus, it showed burst suppression and hypsarrhythmia pattern. Computed tomography (CT) scan of the child revealed hypogenesis of the corpus callosum with modest inter-hemispheric cyst [Fig. two].
Axial CT encephalon showing parallelism of ventricles with a pocket-sized inters hemispheric cyst (white pointer) and no impression of splenium suggestive of hypogenesis of corpus callosum.
She was on anti-epileptic medications and subcutaneous injections of adrenocorticotropic hormone (ACTH) and was having practiced seizure control.
Give-and-take
Aicardi syndrome is a rare X-linked ascendant genetic disorder. The syndrome is almost exclusively seen in females with early on embryonic lethality in hemizygous males.[2] The diagnosis of this disorder is mainly based upon the classic triad of infantile spasms, chorioretinal lacunae and corpus callosum agenesis. Infantile spasms typically start in early childhood. Dissociated flare-up suppression or outburst suppression pattern appearing asymmetrically in either cognitive hemisphere is a characteristic EEG finding in this syndrome,[3] which was seen in our case. Developmental delay is mostly profound involving both motor and linguistic communication skills. Chorioretinal lacunae are well-defined, multifocal pale areas with minimally pigmented borders, and they are unremarkably clustered around the optic disc. They are peculiar punched out areas of choroidal and retinal pigment epithelium (RPE) atrophy. Other ocular abnormalities reported are optic nerve colobomas, which was seen in our case, optic nerve hypoplasia, optic disc pigmentation, microphthalmos, retrobulbar cyst, pseudoglioma, retinal detachment, macular scars, cataract, pupillary membrane remnants, iris synechiae and iris coloboma.[4] Good visual function is seen if fovea is spared of the chorioretinal lacunae, as seen in our example. Costovertebral malformations such equally hemivertebrae, fusion of vertebrae, kyphoscoliosis, absent-minded or malformed ribs, and occasionally cleft lip and palate may too be associated with Aicardi syndrome.[2] However, none of these findings were detected in our case. Most of the Aicardi syndrome cases die at an early age due to aspiration pneumonitis. Merely some do live up to the boyish years and even into their twenties.[5] ACTH, prednisolone, valproic acrid and clonazepam take been used with variable success.[6]
Of late a larger spectrum of the disease has been recognized. In 1998, Aicardi[7] reported that corpus callosum agenesis is not the hallmark of the disease and is not even necessary for diagnosis if other cognitive pathologies, such every bit cysts, are present. Fundus test has gained increasing importance when Aicardi[half dozen] reported in 2005 that no feature except chorioretinal lacunae is constant. Hyogenesis of the corpus callosum and infantile spasm tin can exist seen in a number of other disorders simply in diagnosing Aicardi syndrome the ophthalmologist tin play a pivotal office in looking for chorioretinal lacunae and clinching the diagnosis, as in our case.
Thus, in conclusion, Aicardi syndrome should be kept in mind while investigating a female child with recurrent seizures in early on childhood, and fundus examination by an ophthalmologist tin can be of immense help in the diagnosis of this rare genetic disorder.
The authors would like to thank Dr. Pankaj Mehta, Consultant Department of Radiology, Kovai Medical Center and Hospital, Coimbatore for helping us diagnose this case.
References
1. Aicardi J, Lefebrve J, Lerique-Koechlin A. A new syndrome: Spasm in flexion, callosal agenesis, ocular abnormalities Electroencephalogr Clin Neurophysiol. 1965;nine:609–10
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2. Lee S, Kim KS, Cho SM, Lee SJ. An singular example of aicardi syndrome with favorable outcome Korean J Ophthalmol. 2004;17:79–83
3. Banerjee TK, Chattopadhyay A, Manglik AK, Ghosh B. Aicardi syndrome: A report of five Indian cases Neurol India. 2006;54:91–3
4. Carney SH, Brodsky MC, Good WV, Glasier CM, Greibel ML, Cunniff C. Aicardi syndrome: More than meets the eye Surv Ophthalmol. 1993;37:419–24
5. Iturralde D, Meyerle CB, Yannuzzi LA. Aicardi syndrome: Chorioretinal lacunae without corpus callosum agenesis Retina. 2006;26:977–viii
six. Aicardi J. Aicardi syndrome Brain Dev. 2005;27:164–71
vii. Aicardi J Diseases of the Nervous System in Childhood. 1998 London, England Mac Keith Press:108–9
- Cited Here
Keywords:
Aicardi syndrome; chorioretinal lacunae; fundus findings; ophthalmologist
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Source: https://journals.lww.com/ijo/Fulltext/2009/57030/Aicardi_syndrome__The_importance_of_an.15.aspx
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