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Aicardi syndrome: the importance of an ophthalmologist in its diagnosis.

Shah PK, Narendran V, Kalpana N - Indian J Ophthalmol (2009 May-Jun)

Bottom Line: Aicardi syndrome is a rare genetic disorder.Of these three, chorioretinal lacunae is the most constant feature present.This case highlights the importance of fundus findings by an ophthalmologist in making the diagnosis of this rare syndrome.

View Article: PubMed Central - PubMed

Affiliation: Pediatric Retina Department, Postgraduate Institute of Ophthalmology, Coimbatore, Tamilnadu, India. drshahpk@vsnl.net

ABSTRACT
Aicardi syndrome is a rare genetic disorder. The salient features of this syndrome include agenesis of corpus callosum, chorioretinal lacunae and infantile spasms. Of these three, chorioretinal lacunae is the most constant feature present. This case highlights the importance of fundus findings by an ophthalmologist in making the diagnosis of this rare syndrome.

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Related in: MedlinePlus

Axial CT brain showing parallelism of ventricles with a small inters hemispheric cyst (white arrow) and no impression of splenium suggestive of hypogenesis of corpus callosum.
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Figure 0003: Axial CT brain showing parallelism of ventricles with a small inters hemispheric cyst (white arrow) and no impression of splenium suggestive of hypogenesis of corpus callosum.

Mentions: As the child had seizures, electroencephalography (EEG) was done by the neurologist. EEG showed burst 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 high 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 small inter-hemispheric cyst [Fig. 2].


Aicardi syndrome: the importance of an ophthalmologist in its diagnosis.

Shah PK, Narendran V, Kalpana N - Indian J Ophthalmol (2009 May-Jun)

Axial CT brain showing parallelism of ventricles with a small inters hemispheric cyst (white arrow) and no impression of splenium suggestive of hypogenesis of corpus callosum.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2683450&req=5

Figure 0003: Axial CT brain showing parallelism of ventricles with a small inters hemispheric cyst (white arrow) and no impression of splenium suggestive of hypogenesis of corpus callosum.
Mentions: As the child had seizures, electroencephalography (EEG) was done by the neurologist. EEG showed burst 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 high 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 small inter-hemispheric cyst [Fig. 2].

Bottom Line: Aicardi syndrome is a rare genetic disorder.Of these three, chorioretinal lacunae is the most constant feature present.This case highlights the importance of fundus findings by an ophthalmologist in making the diagnosis of this rare syndrome.

View Article: PubMed Central - PubMed

Affiliation: Pediatric Retina Department, Postgraduate Institute of Ophthalmology, Coimbatore, Tamilnadu, India. drshahpk@vsnl.net

ABSTRACT
Aicardi syndrome is a rare genetic disorder. The salient features of this syndrome include agenesis of corpus callosum, chorioretinal lacunae and infantile spasms. Of these three, chorioretinal lacunae is the most constant feature present. This case highlights the importance of fundus findings by an ophthalmologist in making the diagnosis of this rare syndrome.

Show MeSH
Related in: MedlinePlus