Two Siblings with Macular Cherry-Red Spots, Corneal Opacities and β-Galactosidase Deficiency

Abstract

Two siblings with mucolipidosis were reported. The first case was a 22 year-old female. Her chief complaints were tachycardia and unsteadiness of gait, which were gradually progressive. Clinical pictures were characterized by the presence of slightly gargoyle face, angiokeratomas, corneal opacities, macular cherry-red spots, ataxic gait, abnormal movement (probably action myoclonus), anterior beaking of vertebral body, paroxysmal supraventricular tachycardia, vacuolated cells in the fibroblasts of the skin, bone marrow and peripheral lymphocytes. The second case was a 15 year-old boy and the brother of the first case. He showed hearing disturbance, distinct myoclonus and generalized seizures but ECG revealed a normal sinus rhythm. Other features resembled to the first case. Both cases indicated deficiency of β-galactosidase in leukocytes and normal urinary excretion of uronicacid containing mucopolysaccharides. Epileptic pattern in EEG was detected in both cases. They have clinical features of both mucopolysaccharidoses and sphingolipidoses and they most resemble mucolipidosis I to which Spranger and Wiedemann proposed. But mucolipidosisis a rather equivocal disease entity and therefore it is possible that further heterogeneityexists within the mucolipidosis. However, the name of mucolipidosis is considered to be useful in practice at present, until biochemical identification of an abnormal storage substances are detected. The neurological findings of the second case are thought to be atypical case with dyssynergia cerebellaris myoclonica and these of the first case, an atypicalone. © 1978, The Japanese Society of Internal Medicine. All rights reserved.