Complex intracerebral pathology in a child with epidermolysis bullosa hereditaria

We report the case of a boy with epidermolysis bullosa dystrophica mutilans Hallopeau-Siemens (EBDM) (Fig. 1) confirmed by immunohistochemistry, although no mutation of the collagen VII gene (COL7A1) was detected in a recent analysis (pers. comm., Professor L. Bruckner-Tuderman, Department of Dermatology, University of Munster, Munster, Germany). Figure 1. Old and new lesions of the skin in the patient with epidermolysis bullosa hereditaria dystrophica mutilans Hallopeau-Siemens Download figure to PowerPoint At the age of 9 years, the boy suffered from transitory weakness of the left arm. Some weeks later, after a period of 3 days with right-sided hemisyndrome and motor aphasia, he was admitted to our hospital. Cranial computed tomography 96 h after the onset of the symptoms revealed bilateral frontotemporal cortical atrophy, left-sided parietal hypodensity, and lacunae located frontally and in the basal ganglia on the right side. Magnetic resonance angiography (angio-MRI) showed severe stenosis and occlusions of several large vessels in the basal region of the brain (Fig. 2), compatible with moyamoya syndrome. Transcranial Doppler examination suggested small cortical and meningeal arteries forming a marked collateral circulation. With the exception of anemia (hemoglobin 3.4 g/dL), all routine laboratory tests, including analysis of the cerebrospinal fluid, various serologic examinations for infective agents, investigations for systemic lupus erythematosus, and coagulation parameters, yielded results within the normal range. Only antiphospholipid antibodies (aPLa) were elevated [ antibeta2-glycoprotein-1 IgA 116 U/mL (normal < 10 U/mL), with IgG and IgM negative; antihistone antibodies 129 U/mL (normal < 20 U/mL); anticardiolipin IgG and IgA slightly elevated (IgG 29.2 U/mL, normal < 10 U/mL; IgA 18.2 U/mL, normal < 10 U/mL); lupus anticoagulant negative]. Echocardiography revealed no pathologic findings. Figure 2. Angio-MRI with signs of stenosis of the left internal carotid artery, the right internal carotid artery, the right middle cerebral artery, and the right anterior cerebral artery Download figure to PowerPoint After 4 weeks, magnetic resonance imaging (MRI) revealed a progression of the cerebrovascular process with complete occlusion of the left internal carotid artery and left anterior cerebral artery as well as more ischemic lesions and secondary hemorrhages despite treatment with acetylsalicylic acid at a dose of 100 mg per day. At that time the right-sided paresis and motor aphasia were stable and no further neurologic failures were observed. In a further MRI control after 1 year, an infratentorial brain stem tumor was detected in addition (Fig. 3). For ethical reasons no biopsy was performed. Follow-up controls documented a very slow growth of the tumor, resulting in the tentative diagnosis of a low-grade astrocytoma. The patient's health gradually improved over the next 2 years. No further strokes were observed. Figure 3. T2-weighted MRI with cerebral lesion in the left cortex and infiltratively growing brain stem tumor (arrows) Download figure to PowerPoint