We describe an Italian male patient, deceased at 29 years of age, affected with a syndrome characterized by childhood-onset seizures, mental disorders, motor dysfunction and bilateral palatal myoclonus. Skeletal X-ray examination showed diffuse osteopenia of the tubular bones, and cyst-like lesions in the carpal, metacarpal and tarsal bones bilaterally and in the proximal end of the right femur. Skin biopsy showed subcutaneous and adipose tissue containing membranocystic structures. Cerebral MR and CT scans showed fronto-temporal atrophy, altered signal of the white matter and mineralization of the caudate and dentate nuclei. These findings strongly recall polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, but in the present case, bone alterations were not prominent; moreover, palatal myoclonus has never previously been described in this syndrome.

Malandrini, A., Scarpini, C., Palmeri, S., Villanova, M., Parrotta, E., Tripodi, S., et al. (1996). Palatal myoclonus and unusual MRI findings in a patient with membranous lipodystrophy. BRAIN & DEVELOPMENT, 18(1), 59-63 [10.1016/0387-7604(95)00098-4].

Palatal myoclonus and unusual MRI findings in a patient with membranous lipodystrophy

Malandrini, A.;Palmeri, S.;
1996-01-01

Abstract

We describe an Italian male patient, deceased at 29 years of age, affected with a syndrome characterized by childhood-onset seizures, mental disorders, motor dysfunction and bilateral palatal myoclonus. Skeletal X-ray examination showed diffuse osteopenia of the tubular bones, and cyst-like lesions in the carpal, metacarpal and tarsal bones bilaterally and in the proximal end of the right femur. Skin biopsy showed subcutaneous and adipose tissue containing membranocystic structures. Cerebral MR and CT scans showed fronto-temporal atrophy, altered signal of the white matter and mineralization of the caudate and dentate nuclei. These findings strongly recall polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, but in the present case, bone alterations were not prominent; moreover, palatal myoclonus has never previously been described in this syndrome.
1996
Malandrini, A., Scarpini, C., Palmeri, S., Villanova, M., Parrotta, E., Tripodi, S., et al. (1996). Palatal myoclonus and unusual MRI findings in a patient with membranous lipodystrophy. BRAIN & DEVELOPMENT, 18(1), 59-63 [10.1016/0387-7604(95)00098-4].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/37688
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