A Rare Case of Multiple Intracranial Cysts

Excerpt

A seven-month-old female presented with infantile spasms, difficulty in breathing and white pupillary reflex in left eye since birth. In addition, the patient had a midline swelling in the lower back protruding posteriorly through a defect in the skin. On general examination, child was drowsy with reduced movements and hypotonia. Physical examination revealed a lumbosacral meningocele (Fig. 1a) and unusual facial features consisting of depressed nasal bridge with an up-turned tip, thickly hooded prominent eyes, cupid bow appearance of upper lip, sparse lateral eyebrows and corneal opacity on left side (Fig. 1b). She had undergone lumbosacral MRI with screening of brain from an outside institute where she was diagnosed as spina bifida from D11 to S1 level with lumbosacral meningocele at L5-S1 level associated with terminal syringohydromyelia. The patient was referred for CT scan of the brain to look for the associated cranial lesions and cause of seizures. On CT scan (Fig. 2), there was presence of intraaxial posterior fossa cysts in bilateral cerebellar hemispheres in the region of bilateral cerebellopontine angles. Intraparenchymal cysts were also seen in bilateral basal ganglia and bilateral thalami. Corpus callosum dysgenesis was seen and a large midline interhemispheric cyst was seen in the region of corpus callosum. Bilateral lateral ventricles were normally visualised. Abnormally thickened, closely opposed and poorly formed gyri were seen in left parietal lobe. Diffuse hypodensity was seen in bilateral deep white matter. MRI was advised for further characterization of the cortical and white matter lesions, however the family declined it, primarily because of financial reasons. The characteristic neuroimaging findings, lumbosacral meningocele and corneal opacity were diagnostic of Aicardi syndrome.

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