Palatal myoclonus and unusual MRI findings in a patient with membranous lipodystrophy.
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
A
Institute of Neurological Sciences, University of Siena, Italy.
Scarpini
C
C
Palmeri
S
S
Villanova
M
M
Parrotta
E
E
Tripodi
S
S
Giani
S
S
DeFalco
D
D
Guazzi
G C
GC
D000328:Adult; D001706:Biopsy; D001851:Bone Diseases, Metabolic / Q000000981:diagnostic imaging / Q000209:etiology; D002462:Cell Membrane / Q000473:pathology; D004727:Endothelium / Q000473:pathology; D006801:Humans; D008060:Lipodystrophy / Q000150:complications* / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D008297:Male; D009207:Myoclonus / Q000150:complications* / Q000175:diagnosis*; D012867:Skin / Q000473:pathology; D014057:Tomography, X-Ray Computed