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|Year : 2018 | Volume
| Issue : 1 | Page : 265-266
Triad of gloom in a girl child: Aicardi syndrome
Lokesh Saini1, Parag Shankarao Dekate1, VS V Prasad1, Dandu Ravi Varma2
1 Department of Pediatrics, Lotus Children Hospital, Hyderabad, Telangana, India
2 Department of Neuroradiology, Citi Neuro Center, Hyderabad, Telangana, India
|Date of Web Publication||11-Jan-2018|
Dr. Lokesh Saini
Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh - 160 012
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Saini L, Dekate PS, V Prasad V S, Varma DR. Triad of gloom in a girl child: Aicardi syndrome. Neurol India 2018;66:265-6
A 5-month old girl with no adverse prenatal, perinatal, and postnatal events, presented with a history of flexor spasms in clusters for one week. On examination, there was central hypotonia with normal head circumference and unremarkable fundus findings, with absence of neurocutaneous stigmata, facial dysmorphism or organomegaly. Neuroimaging complemented the diagnosis by fulfilling the triad of features of this dreaded X-linked dominant disorder [Figure 1]a,[Figure 1]b,[Figure 1]c,[Figure 1]d Magnetic resonance imaging (MRI) of the brain, T2 weighted axial (a-c) and sagittal (d) images revealed partial agenesis of the corpus callosum (double arrows), with an interhemispheric cyst (asterix). The left frontal lobe showed a thickened cortex with polymicrogyria (arrow heads) in the basifrontal region. Retrobulbar colobomatous cyst was also seen in the right orbit (black arrow).
|Figure 1: Axial T2-weighted MRI brain showing bilateral globus pallidi (a) and substantia nigra (b) hypointensity. Note the isointense signal changes in axial T1 weighted images (c), and cerebellar atrophy (d)|
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Aicardi syndrome is a clinicoradiological diagnosis where the classical triad comprises agenesis/dysgenesis of the corpus callosum, infantile spasms, and distinctive chorioretinal lacunae., As no gene or candidate region on the X chromosome has been definitively identified, the presence of this clinicoradiological triad remains the sole diagnostic feature of this entity.
Neurological examination of these patients is nonspecific with variable findings. Some of the commonly encountered features include microcephaly and appendicular hypertonia with axial hypotonia. Historically, Aicardi syndrome presents with preexisting moderate-to-severe delay in milestones with recent-onset infantile spasms. The onset of seizures usually occurs in infancy, where approximately two-third of the affected children develop seizures in the first 6 months of life, which are usually refractory to medical treatment. Other phenotypic features that may be associated include costovertebral anomalies, distinct facial features, pigmentary defects of the skin, and small hands; however, they were absent in the index case.
Recently, Aicardi syndrome has been recognized as a complex neurodevelopmental disorder. The presence of the classical triad is not essential for establishing its diagnosis; it has been discovered to have a wide spectrum of additional neuronal as well as extraneuronal manifestations. Sutton et al., proposed a modified diagnostic criteria, wherein he described that no additional characteristics are required for its diagnosis in the case all the three diagnostic features are present, viz.agenesis/dysgenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae; they also stated that the presence of atleast two of the classical features with any two additional features also strongly suggest the diagnosis of Aicardi syndrome. These additional features include cortical malformations (polymicrogyria in the majority of patients) along with optic nerve/disc coloboma, cysts around the third ventricle or choroid plexus, subcortical heterotopias, split brain electroencephalogram, micro-ophthalmia and rib cage anomalies.
Hopkins et al., described the neuroradiological findings in the largest cohort of patients. Describing the cranial magnetic resonance imaging findings of 23 girls, they found that all of them had polymicrogyria (predominantly frontal) and periventricular nodular heterotopias and, 21 of the 23 girls had an intracranial cyst; all of the above-mentioned abnormalities were present in the index case discussed in the present study [Figure 1]a,[Figure 1]b,[Figure 1]c,[Figure 1]d.
Rarely, this syndrome may present with normal developmental milestones and with no episodes of seizures. Awareness regarding the modified diagnostic criteria proposed by Sutton et al., is quite useful and may have significant implications in the genetic and antenatal counseling.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
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