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NEUROFIBROMATOSIS: Neurofibromatosis (NF) is
an autosomal dominant disorder characterized by multiple neurofibromas,
pigmented skin lesions, osseous malformations, associated
tumors, optic nerve or chiasmal gliomas, and meningiomas. NF has
very specific diagnostic criteria.
THIS
CASE: Our patient does not meet
these diagnostic criteria.
TUBEROUS SCLEROSIS:
Tuberous sclerosis (TS) is an autosomal dominant disorder characterized
by ungual fibroma, retinal hamartoma, facial angiofibroma, subependymal
nodules, multiple cortical tubers, and bilateral renal angiomyolipoma.
THIS
CASE: Our patient did not meet the diagnostic
criteria as described above.
STURGE-WEBER SYNDROME:
Sturge-Weber syndrome (SWS) has no known genetic basis and
is characterized by nevus flammeus in the distribution of the
fifth cranial nerve, parietal- occipital leptomeningeal hemangioma,
calcification of the cortex underlying the hemangioma, choroidal
hemangiomas, occasional unilateral glaucoma, and convulsions.
THIS
CASE: The cutaneous manifestations described
above were absent in our patient.
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VON HIPPEL-LINDAU DISEASE: von
Hippel-Landau disease (VHL) is an autosomal dominant disorder—although
it may occur sporadically—characterized by retinal capillary
angioma, cerebellar hemangioblastoma; renal, hepatic, or
ependymal cysts; pheochromocytomas or renal cell carcinomas.
THIS
CASE: Our patient did not have the retinal or
visceral findings described above.
ATAXIA TELANGIECTASIA: Ataxia telangiectasia
(AT) is an autosomal recessive disorder, which is the most common
cause of ataxia in early childhood and is characterized by progressive
cerebellar ataxia, oculocutaneous telangiectasias, thymic hypoplasia,
and conjunctival telangiectasias.
THIS
CASE: Our patient did not have ataxia
WYBURN-MASON SYNDROME:
Wyburn- Mason syndrome (WMS) is a nonhereditary disorder
characterized by intracranial and ocular arteriovenous malformations;
racemose angiomas of the ipsilateral retina; spontaneous vitreous
hemorrhage; AVMs of the maxilla, pterygoid fossa or mandible;
and orbital AVMs associated with mild proptosis, conjunctival
dilatation or a bruit.
THIS
CASE: Our patient did not have the characteristic
racemose angiomas or AVMs.
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