A 20-year-old, mentally retarded woman saw the physician because she had flank pain for 1 week. Physical
examination showed right costovertebral angle tenderness. Patches of leathery-appearing (shagreen patches) and
hypopigmented (ash-leaf patches) skin were scattered over her body. There was a subungual nodule on her right index
finger. Abdominal CT scan showed bilateral renal cysts and tumor masses. MRI of the brain showed subependymal
nodules and 1- to 4-cm cortical foci with loss of the gray-white distinction. CT scan of the chest showed a 3-cm mass
involving the interventricular septum. Two years later, she has sudden, severe headache. MRI now shows a nodule
obstructing the cerebral aqueduct. Neurosurgery is performed, and a subependymal giant-cell astrocytoma is removed.
What is the most likely diagnosis?
A. Down syndrome B. Krabbe disease C. Neurofibromatosis type 1 D. Neurofibromatosis type 2 E. Tuberous sclerosis F. Von Hippel–Lindau disease
Tuberous sclerosis-(e) tuberous sclerosis is one of the phakomatosesrare inherited disorders in which hamartomas and neoplasms
develop throughout the body, along with cutaneous abnormalities. patients with tuberous sclerosis have cortical tubers,
which are hamartomas of neuronal and glial tissue; other characteristic findings include renal angiomyolipomas, renal
cysts, subungual fibromas, and cardiac rhabdomyomas. in down syndrome (trisomy 21), patients may develop acute
leukemia, but not brain neoplasms, and individuals who survive to middle age develop alzheimer disease. krabbe disease
is a leukodystrophy that results in deficiency of galactocerebroside -galactosidase and an onset of neurologic
deterioration in infancy. neurofibromatosis type 1 is characterized by deforming cutaneous and visceral neurofibromas,
cutaneous caf�-au-lait spots, and neurofibrosarcomas. in neurofibromatosis type 2, acoustic schwannomas, meningiomas,
gliomas, and ependymomas are present. von hippellindau disease is characterized by hemangioblastomas in the
cerebellum, retina, and spinal cord, and by pheochromocytomas.
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