PMC4465690_01
Dental X-rays performed at the age of 6 (a) and the age of 19 (b). The lower second bicuspids are absent. There are two supernumerary teeth underneath her secondary lower incisors, which may represent ectopic, malformed bicuspids.
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fig1
She had been diagnosed with congenital absence of the lower second bicuspids, and dental X-rays (see Figure 1) had identified two supernumerary teeth underneath her secondary lower incisors, which may have represented ectopic, malformed bicuspids.
MRI of the brain performed at the age of 28, demonstrating evidence of a hypomyelinating leukodystrophy. Compared to grey matter structures, there is diffuse hyperintensity of the white matter on T2 weighted images (a, b, c), with hyperintense signal on T1 weighted images (d), consistent with hypomyelination. As previously reported, there is characteristic relative preservation of myelination within the following structures: optic radiations (long thin white arrow; a, b), anterolateral nucleus of the thalamus (thick white arrow; a, b), globus pallidus (short thin white arrow; a, b), posterior corpus callosum (white arrow head; b), corticospinal tracts (white arrow; c), and the dentate nucleus (white arrow; e). Sagittal T1 weighted imaging (f) demonstrates thinning of the corpus callosum and mild cerebellar atrophy.
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fig2
A full MRI of the brain was not obtained at the time of initial evaluation, but a subsequent MRI (see Figure 2) revealed diffuse hypomyelination (i.e., hyperintense white matter on T2 weighted images compared to grey matter structures) as well as a slightly thin corpus callosum and mild atrophy of the cerebellum, predominantly seen at the vermis. 4H leukodystrophy was suspected based on the patient's clinical and radiological features. At the age of 28, a detailed, gadolinium enhanced MRI of her head was obtained (Figure 2).