PMC3401654_01
(a) Lingual melanotic macule. (b, c) Cafe-au-lait lesions associated with multiple ephelides. (d) Pedigree of the family. The generations are indicated with roman numerals (I-III). Numbers on top of the symbols indicate the individuals in each generation. Squares, male; circles, female; symbols with a diagonal, deceased individuals. Age at diagnosis is indicated on the right bottom of the symbols. Solid symbols, affected individuals; shaded symbol with a diagonal, congenital heart disease
JPN-7-43-g001.jpg
PMC3401654_01_JPN-7-43-g001.jpg
F1
Prominent cafe-au-lait skin lesions were observed on the patient's neck and midchest [Figure 1a-c]. He also had an older brother who died owing to congenital heart disease [Figure 1d].
(a) Axial T2-weighted Magnetic resonance imaging (MRI) showing the left mesial temporal cavernous hemangioma. (b) Axial T2-weighted MRI showing a left-cerebellar posterior fossa tumor with brainstem displacement. (c) Fluid-attenuated inversion-recovery image showing an asymptomatic right frontal radiationinduced cavernous hemangioma 60 months after radiation terapy; (d) Axial T1-weighted MRI enhanced with gadolinium showing recurrence of the medulloblastoma in the cerebellar vermis. (e, f) Axial and sagittal T1-weighted image enhanced with gadolinium two months later showing massive brain stem infiltration
JPN-7-43-g002.jpg
PMC3401654_01_JPN-7-43-g002.jpg
F2
MRI of the brain showed an isolated lesion in the left mesial-temporal lobe [Figure 2a]. MRI scans showed supratentorial hydrocephalus associated with a posterior fossa tumor in the left cerebellar hemisphere displacing the brainstem [Figure 2b]. Five years later, control MRI scans confirmed no recurrence of the lesion, however showed multiple and asymptomatic radiation-induced cavernous hemangiomas [Figure 2c]. At the age of 10 a massive recurrence of the medulloblastoma was observed in the posterior fossa associated with severe hydrocephalus [Figure 2d]. In spite of aggressive adjuvant treatment, the child died 3 months later due to infiltration of adjacent brain stem and clinical complications [Figure 2e, f].