title: [Late-infantile form galactosialidosis with psychomotor retardation and spastic paraparesis].
abstract: We described a case of late-infantile form of galactosialidosis. This male patient was a product of normal pregnancy. His parents were first cousins. He first sat at eight months, walked and talked at two years of age. His gait gradually became unsteady and he was diagnosed as spastic paraparesis at the age of five years. Abnormally slow learning was first pointed out at seven years of age. At the age of nine years, we evaluated him in detail at our university hospital. Physical examination revealed a short stature for his age, slightly coarse face, short neck, funnel chest, genu, pes and hallucis valgus. Corneal clouding, hernia and angiokeratoma were not found. Neurological examination showed mental retardation, bilateral optic atrophy without cherry-red spots, and spastic and slightly ataxic gait. Slight muscular atrophy with weakness was also seen in the extremities, more remarkable in the lower limbs. Deep tendon reflexes were hyperactive with bilateral ankle clonus and no extensor planter response. Routine examination of blood, urine and cerebrospinal fluid were normal except for approximately 10% lymphocytes containing cytoplasmic vacuoles. X-ray films of the backbone exhibited vertebral plana with anterior breaking at the second lumbar vertebra level. The electroencephalography showed the multiple spike and slow wave complexes. Brain CT depicted the atrophy of cerebellum. The activities of sialidase and beta-galactosidase were markedly reduced in white blood cells and cultured skin fibroblasts in this patient. His urinary excretion of sialyloligosaccharides increased.(ABSTRACT TRUNCATED AT 250 WORDS)
authors.forename: K
authors.initials: K
authors.lastname: Miyashita
authors.forename: N
authors.initials: N
authors.lastname: Miyatani
authors.forename: H
authors.initials: H
authors.lastname: Yoshino
authors.forename: S
authors.initials: S
authors.lastname: Tsuji
authors.forename: T
authors.initials: T
authors.lastname: Miyatake
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications* / Q000378:metabolism / Q000523:psychology; D002648:Child; D005690:Galactose / Q000378:metabolism*; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D009439:Neuraminidase / Q000172:deficiency; D015493:Paraparesis, Tropical Spastic / Q000209:etiology*; D011596:Psychomotor Disorders / Q000209:etiology*; D012794:Sialic Acids / Q000378:metabolism*; D001616:beta-Galactosidase / Q000172:deficiency
chemical_list: D012794:Sialic Acids; D009439:Neuraminidase; D001616:beta-Galactosidase; D005690:Galactose