[Galactosialidosis with Kayser-Fleischer's ring].
The case of a 4 year-old boy presenting with dysmorphic facies, hepatomegaly, splenomegaly, growth and psychomotor retardation is reported. Radiological pattern suggested a storage disease. Bone marrow differential cell count showed numerous storage cells with vacuolated lymphocytes. Enzymatic studies showed decreased beta-galactosidase and neuraminidase levels, leading to the diagnosis of galactosialidosis. This is the first Tunisian case reported, which differs from the other cases published by the presence of a Kayser-Fleischer ring.
Mongalgi
M A
MA
Service de Médecine Infantile C, Hôpital d'Enfants de Tunis.
Toumi
N H
NH
Cheour
M
M
Vanier
M T
MT
Debbabi
A
A
D001855:Bone Marrow Diseases / Q000150:complications / Q000473:pathology; D002675:Child, Preschool; D005128:Eye Diseases / Q000150:complications*; D006130:Growth Disorders / Q000150:complications* / Q000000981:diagnostic imaging; D006529:Hepatomegaly / Q000150:complications*; D006801:Humans; D008297:Male; D009439:Neuraminidase / Q000172:deficiency*; D011596:Psychomotor Disorders / Q000150:complications; D011859:Radiography; D013163:Splenomegaly / Q000150:complications; D001616:beta-Galactosidase / Q000172:deficiency*
D009439:Neuraminidase; D001616:beta-Galactosidase
La galactosialidose avec anneau de Kayser-Fleischer.