Abstract
ABSTRACTSturge-Weber syndrome (SWS) is a rare, nonhereditary developmental condition that is characterized by a hamartomatous vascular proliferation of the brain, resulting in multiple angiomas that occur on the same side due to arteriovenous malformations. It is believed to be caused by persistence of a vascular plexus around the cephalic portion of the neural tube and is present at birth in about 1 in every 50,000 babies.It is one of the phakomatoses which is often associated with port-wine stains (PWSs) of the face, glaucoma, seizures, mental retardation and ipsilateral leptomeningeal angioma. Many people with SWS probably never know they have it. Hypothyroidism is a condition that arises from inadequate release of thyroid-stimulating hormone to stimulate an otherwise normal thyroid gland. This condition is often associated with a deficient secretion of other pituitary hormone, and growth hormone deficiency occurs with an increased prevalence in SWS, presumably secondary to involvement of the hypothalamic-pituitary axis. Diagnosis is made by the presence of a facial PWS and evidence of leptomeningeal angioma either by skull X-ray or computed tomography scan that shows intracranial calcifications. Presently, there is no specific treatment for SWS, and the management of the clinical manifestations and complications is still far from adequate.Here, we report the case of hypothyroidism associated with SWS with oral and facial manifestations in an 11-year-old boy.How to cite this article: Saroj G, Gangwar A, Dhillon JK. Hypothyroidism and Sturge-Weber Syndrome associated with Bilateral Port-wine Nevus. Int J Clin Pediatr Dent 2016;9(1): 82-85.
Highlights
Sturge-Weber syndrome (SWS) or encephalotrigeminal angiomatosis is a rare congenital neurological and skin disorder
Sturge-Weber syndrome was initially described by Schirmer, in 1860, and was specified by Sturge,[1] who associated the dermatological and ophthalmic changes to the disease’s neurological manifestations
Unlike other neurocutaneous disorders, SWS occurs sporadically. It is caused by a somatic activating mutation occurring in the Guanine Nucleotide Binding Protein (G Protein), Q Polypeptide gene and persistence of vascular plexus round the cephalic portion of the neural tube
Summary
Sturge-Weber syndrome (SWS) or encephalotrigeminal angiomatosis is a rare congenital neurological and skin disorder. Unlike other neurocutaneous disorders (phakomatoses), SWS occurs sporadically (i.e., does not have a hereditary etiology) It is caused by a somatic activating mutation occurring in the Guanine Nucleotide Binding Protein (G Protein), Q Polypeptide gene and persistence of vascular plexus round the cephalic portion of the neural tube. Extraoral examination revealed port-wine stain (PWS) or nevus with bilateral distribution along multiple segments of trigeminal nerve since birth. It extended from the middle of the forehead and involved the eye, nose, cheek, philtrum. Examination of the eyes revealed dilated blood vessels in both the eyes, greatest risk of glaucoma, and the patient was advised ophthalmic consultation (Fig. 3). A thorough plaque control regimen was started, including oral prophylaxis at regular intervals, oral hygiene instructions and motivation of the patient at each visit (Fig. 5)
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