PMC10032445_01
(a) Photograph of the patient's facial structure indicating macrocephaly,
prominent forehead, low nasal bridge, micrognathia, dental crowding, and
square jawline. (b) Photograph showing the patient standing. (c)
Anterior-posterior radiograph of the thoracolumbar spine shows thoracolumbar
scoliosis, narrowing of lumbar interspaces, spondylotic subluxation of L5 on
S1, and dysplastic pelvic bones.
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On physical examination, the patient was noted to have macrocephaly (head circumference 60 cm; 99th percentile) and a prominent forehead without coarse facial features, a low nasal bridge, micrognathia, dental crowding, and misaligned teeth with a prominent square jawline (Figure 1(a)). She was of short stature (height 61 inches; 9th percentile), had valgus knee deformity with leg length discrepancy, significant muscle wasting of the bilateral upper and lower extremities, and bilateral thenar atrophy (Figure 1(b)). Spinal examination was notable for scoliosis with spine imaging showing thoracolumbar scoliosis, narrowing of the lumbar spaces, anterior subluxation of L5 onto S1, and dysplastic pelvic bones (Figure 1(c)).
(a) Montage color fundus photograph of the right eye showing attenuated
retinal arterioles, a blunted foveal reflex, and a small amount of
bone-spicule-like pigmentation anterior to the inferotemporal vascular
arcade. (b) Spectral domain optical coherence tomogram (OCT) of the right
macula showing extensive loss of the outer nuclear layer, the external
limiting membrane, and the ellipsoid zone that spares the central 1 mm. A
trace amount of cystoid macular edema can be seen in the inner nuclear
layer. Imaging obtained of the left eye, although not included, showed
similar changes to the right eye. (c) Fundus autofluorescence image of the
right eye showing an elliptical ring of hyperautofluorescence 1.5 mm x 2 mm
in size centered on the fovea. The foveal avascular zone is also slightly
hyperautofluorescent. (d) Goldmann visual field of the right eye shows a
ring scotoma to the I4e isopter. The I2e isopter is constricted to less than
20 .
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Ophthalmologic examination showed bilateral arteriolar attenuation and bone-spicule-like pigmentary changes anterior to the inferotemporal arcades (Figure 2(a)). Optical coherence tomography of the macula revealed extensive loss of the outer nuclear layer, external limiting membrane, and the ellipsoid zone that spared the central 1 mm (Figure 2(b)). The foveal avascular zone was also slightly hyperautofluorescent (Figure 2(c)). Visual field testing revealed bilateral ring scotomas though central visual acuity was 20/20 in both eyes (Figure 2(d)).
Surgical microscopy specimen of the mitral valve as seen using electron
microscopy. Abnormal vacuolated cells with flocculent cytoplasmic material
viewed at both (a) low and (b) high magnification. Surgical microscopy
specimens of the mitral valve as seen using light microscopy. Collections of
abnormal vacuolated histiocytes are present within the fibrous and spongy
layers of the mitral valve seen at both (c) low and (d) high magnification
using hematoxylin-eosin stain.
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Electron microscopy of the mitral valve biopsies showed numerous clear vacuolated cells with clear, flocculent material and inclusions in the leaflets and chordae tendineae (Figure 3(a) and (b)). Light microscopy of her native mitral valve showed collections of abnormal vacuolated histiocytes in both the fibrous and spongy layers (Figure 3(c) and (d)).