title: Infantile galactosialidosis presenting with congenital adrenal hyperplasia and renal hypertension.
abstract: A patient with early infantile galactosialidosis presenting as congenital adrenal hyperplasia with clitoral hypertrophy and arterial hypertension is reported. Serum 17-alpha-OH-progesterone and plasma renin levels were elevated. Adrenal hyperplasia and thickening of the cardiac septum were detected by sonography; however, progressive hepatosplenomegaly, increasingly coarse features, and vacuolization of bone marrow and liver cells suggested a storage disorder. Combined deficiency of beta-galactosidase and sialidase enzyme activity in both lymphocytes and cultured fibroblasts was detected. This patient with early infantile galactosialidosis is the first reported who presented with congenital adrenal hyperplasia.
authors.affiliation: Department of Pediatrics II, Ostra Sjukhuset, Göteborg, Sweden.
authors.forename: M
authors.initials: M
authors.lastname: Kyllerman
authors.forename: J E
authors.initials: JE
authors.lastname: Månsson
authors.forename: O
authors.initials: O
authors.lastname: Westphal
authors.forename: N
authors.initials: N
authors.lastname: Conradi
authors.forename: H
authors.initials: H
authors.lastname: Nellström
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D005260:Female; D006801:Humans; D006977:Hypertension, Renal / Q000235:genetics* / Q000473:pathology; D007223:Infant; D007728:Kupffer Cells / Q000473:pathology; D016464:Lysosomal Storage Diseases / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D009186:Myelin Sheath / Q000473:pathology; D009439:Neuraminidase / Q000172:deficiency; D012794:Sialic Acids / Q000378:metabolism*; D001616:beta-Galactosidase / Q000172:deficiency
chemical_list: D012794:Sialic Acids; D009439:Neuraminidase; D001616:beta-Galactosidase