Infantile GM1 gangliosidosis: fatal disease due to inherited progressive neuronal damage

Abstract

GM1 gangliosidosis is a lysosomal stor age dis ease caused by mu ta tions in a GLB1 gene and a de fi ciency of en zyme beta- galactosidase. Ac cu mu la tion of undegraded gang lio - sides oc curs in the neu rons, form ing typ i cal meganeurites, and in the vis ceral or gans. Our pre sented pa tient was a 1.5 years old fe male with typ i cal symp toms of in fan tile GM1 ganglio sidosis. She was born to non-con san guin e ous par - ents of Ukrai nian and Rus sian de scent af ter an un event ful preg nancy per sectionem cesaream. Edema in lower extrem i ties and in the periocular re gion was ob served af ter de - liv ery. Ap pe tite was good and weight gain was nor mal. In - creased ir ri ta bil ity, sen si tive ness to sounds and fine hor i zon - tal nystagm were noted from birth. From the age of two months in fan tile spasms were ob served: stiff ness, red ness in face and apneic ep i sodes started at the time of cry ing or ex - er cises and lasted for sev eral sec onds. There was de vel op - men tal re gress from very early in in fancy: the child had a head con trol at the age of 3.5 months but later lost it, smil ing ap peared only at 11 months, gaze fix a tion – at the age of 12 months of age. CT scan of the head re gion was per formed in Kaunas Uni ver sity of Med i cine Clin ics: hypoplasia of vermis cerebelli and sec ond ary vetriculo megaly was ob served in it. Typ i cal symp toms of cherry-red spots were found in oc u lar fundi. Phe no type at the age of 1.5 years was also sug ges tive: pro foundly im paired psycho motor de vel op ment, al most no ac tive move ments, macro cep haly, coarse fa cial fea tures, gingival hy per pla sia, no teeth, macro glossia, hypertrichosis, hepatomegaly, ab duc ted great toes in both feet. [...].