Two Siblings with Macular Cherry-Red Spots, Corneal Opacities and β-Galactosidase Deficiency
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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 supraventriculartachycardia, vacuolated cells in the fibroblasts of the skin, bone marrow andperipheral lymphocytes. The second case was a 15 year-old boy and the brother of the firstcase. He showed hearing disturbance, distinct myoclonus and generalized seizures but ECGrevealed a normal sinus rhythm. Other features resembled to the first case. Both casesindicated 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 theymost 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 storagesubstances 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.
- 社団法人 日本内科学会の論文
社団法人 日本内科学会 | 論文
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