Triad of Microcephaly, Pedal Lymphedema, and Pigmentary Eye Changes: A Visual Diagnosis

Excerpt

A 12-mo-old boy born out of a non-consanguineous marriage presented with global developmental delay, small head size, and swelling of dorsum of feet since birth. On examination he had severe microcephaly (–7.11 Z) (Fig. 1a, b). Fundus examination revealed macular pigmentary changes and vascular attenuation (Fig. 1c, d). Fundus autofluorescent imaging revealed hypofluorescence at macula with hyperfluorescence in center (Fig. 1e, f). Neuroimaging showed simplified gyral pattern. Genetic testing revealed autosomal dominant heterozygous silent variation c.2922G>A(p.Pro974( =)) in exon 20 of the KIF11 gene, suggestive of microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; MIM#152950) [1, 2]. Only less than 100 cases have been reported in the literature. With characteristic clinical features of microcephaly, lymphedema of feet and retinopathy, a good general examination facilitates an early diagnosis and confirmation by genetic testing.

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