RESUMO
We present a 36-year-old woman with a 3-year history of cognitive decline followed by development of a small stepped gait and urinary and fecal incontinence. Workup revealed multiple bone cysts documented by X-ray and idiopathic hyperprolactinoma. An MRI confirmed the CT finding of massive bilateral basal ganglia calcification. This is the first case of polycystic lipomembranous osteodysplasia described in Germany. We conclude that patients with presenile dementia, psychosis, or early-onset Parkinsonism associated with basal ganglia calcification should undergo X-rays of hand and feet to rule out polycystic lipomembranous osteodysplasia.
Assuntos
Doença de Alzheimer/genética , Doenças dos Gânglios da Base/genética , Cistos Ósseos/genética , Calcinose/genética , Aberrações Cromossômicas , Genes Recessivos , Lipodistrofia/genética , Adulto , Doença de Alzheimer/diagnóstico , Doença de Alzheimer/psicologia , Gânglios da Base/patologia , Doenças dos Gânglios da Base/diagnóstico , Doenças dos Gânglios da Base/psicologia , Cistos Ósseos/diagnóstico , Cistos Ósseos/psicologia , Calcinose/diagnóstico , Calcinose/psicologia , Diagnóstico Diferencial , Eletroencefalografia , Feminino , Alemanha , Humanos , Lipodistrofia/diagnóstico , Lipodistrofia/psicologia , Imageamento por Ressonância Magnética , Exame Neurológico , Testes Neuropsicológicos , Tomografia Computadorizada por Raios XRESUMO
Seven patients with polycystic lipomembranous osteodysplasia and sclerosing leukoencephalopathy (PLO-SL or membranous lipodystrophy) were examined clinically and with CT scanning. The degree of dementia was severe in five cases, marked in one case, and mild in one case. All patients suffered from marked or severe prefrontal psychosyndrome, impairment of memory and signs of upper motor neuron involvement. Epileptic seizures and primitive reflexes were observed in six cases. Degree of agnostic-aphasic-apraxic symptoms varied. In all cases CT revealed general and diffuse brain atrophy, which was accentuated in frontal areas. In the basal ganglia bilateral calcifications (five cases) or a slight hyperdensity (two cases) were detected. CT finding in PLO-SL may lead to an early diagnosis of this fatal disease.
