A case of sialidosis with partial beta-galactosidase deficiency Kyoichi Takahashi 1 , Shoji Kishi 1 , Mashashi Arai 2 , Susumu Kondo 2 , Toyoaki Yamauchi 3 1Dept of Ophthalmol Gunma Univ Sch of Med 2Dept of Neurol Gunma Univ Sch of Med 3Dept of Neurol Niigata Univ Sch of Med pp.1305-1310
Published Date 1990/8/15
DOI https://doi.org/10.11477/mf.1410908252
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A 11-year-old boy presented with gradually pro-gressive visual impairment. The visual acuity was 0.6 in either eye. Ocular manifestations included turbid corneal stroma and macular cherry-red spot in both eyes. Facial physiognomy was unique with thickened eyelids, wide and saddle nose, thickened earlobe, arch-shaped eyebrow and hypertrichosis. The gingiva was hypertrophic. The teeth were small and stubby. He showed, systemically, mild dwarfism, angiokeratoma on the scrotum, myo-clonus and mental retardation. X-ray studiesshowed flattened vertebrae and anterior beaking of lumbar vertebral column. Hematological studies revealed vacuolated lymphocytes in the peripheral blood. Rectal biopsy showed swollen neurons with membranous cytoplasmic bodies.

Assay of neuraminidase and beta-galactosidase activity in the peripheral leucocytes and lymphocytes led to the diagnosis of sialidosis with partial beta-galactosidase deficiency. Enzyme activities in his maternal aunt were essentially similar.

We emphasize that the characteristic counte-nance is one of the key features of this clinical and etiological entity.

Copyright © 1990, Igaku-Shoin Ltd. All rights reserved.


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