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• W2091567437 abstract "The associations of tuberous sclerosis (TS) with phakomatoses, like von Recklingshausen disease, have been reported in the literature (1). The coexistence of TS with Sturge–Weber syndrome (SWS) has been reported only rarely (2,3). We report a case of TS first seen on magnetic resonance imaging (MRI) with an extensive parietooccipital leptomeningeal enhancement, without gyriform calcifications. These features, classically described in SWS, have not been reported in association with TS. The patient, a 13-year-old girl, had a family history of TS (grandfather, mother, and two maternal aunts). The proband had hypomelanotic macules associated with a left frontal epidermal angiofibroma. Right-sided sensory motor seizures with secondary generalization were noted for the first time when she was 12 years old. She rapidly showed a mild right hemiparesis. Neurologic examination was otherwise normal, except for mild cognitive difficulties. Brain MRI and computed tomography (CT) scan revealed partially calcified left frontal cortical tubers and subependymal nodules and a right parietal white-matter migration line. With these, typical TS radiologic features were associated with a left parietooccipital leptomeningeal enhancement, with fluid-attenuated inversion recovery (FLAIR) hypersignal, highly evocative of pial angiomatosis, a homolateral enlarged choroid plexus and skull hypertrophy, and a mild left parenchymal atrophy (Fig. 1). Typical SWS gyriform calcifications were absent on CT scan. T1-weighted magnetic resonance images after contrast enhancement (A: axial; B: coronal): Left parietooccipital leptomeningeal enhancement, homolateral enlarged choroid plexus, mild left parenchymal atrophy, and homolateral skull hypertrophy. Abdominal, renal, and cardiac ultrasound examinations were normal. No trigeminal angiomatosis or port-wine stain was found. Ophthalmologic examination also was normal. Standard scalp EEG showed a left hemispheric focalization. SWS is a sporadic, congenital neurologic disorder often associated with epilepsy (4,5). Diagnosis is usually straightforward in the presence of cutaneous signs and typical neuroradiologic findings (6,7). When cutaneous signs are absent, the diagnosis can be made only if pial angiomatosis is demonstrated by imaging (5,6). Three cases of TS with superficial occipital gyriform calcifications, on CT examination, have been reported in the literature (8,9). In these cases, the radiologic features were those classically found in SWS, but at histopathologic examination, when available, the calcifications appeared to be located in extensive cortical tubers, which led to questioning of the diagnosis of a double phakomatosis (8). In another study (10), dealing with outcome of SWS in 52 adult patients, the offspring of one SWS patient was reported to have typical TS. In our patient, the radiologic features have many similarities with the classic presentation of SWS (7). However, the absence of gyriform calcifications, a typical radiologic feature of SWS when associated with the pial enhancement, can lead to doubts about the diagnosis. The relation between the progressive development of calcifications and intractable epilepsy is not clearly established. One could assume that in our patient, calcifications were absent because of a previously benign course. Repeated radiologic follow-up will be necessary to exclude later development of gyriform calcifications. The described leptomeningeal abnormalities seem not to correspond to an extensive cortical tuber. Cortical tubers usually do not show enhancement and are not associated with enlarged choroid plexus or calvarial thickening (7). A definite diagnosis of the combination of two different disorders is not possible in our patient, because a histologic examination is not yet available. A registry of similar cases may be of help when discussing transitional forms or diseases deriving from a common gene. Both these assumptions cannot be defended on the basis of current knowledge." @default.
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• W2091567437 date "2005-03-29" @default.
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• W2091567437 title "Leptomeningeal Enhancement and Enlarged Choroid Plexus Simulating the Appearance of Sturge-Weber Disease in a Child with Tuberous Sclerosis" @default.
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• W2091567437 doi "https://doi.org/10.1111/j.0013-9580.2005.62704.x" @default.
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