Hypothyroidism and Sturge-Weber Syndrome associated with Bilateral Port-wine Nevus

Abstract

Sturge-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.

Less known aspects of central hypothyroidism: Part 2 – Congenital etiologies

“…Thyroid function tests were performed, and were consistent with CH. Indeed, FT4 was 0.62 ng/dl (normal range, 0.7–1.6 ng/dl), TT4 was 4.5 μg/dl (normal range 5.5–11.0 μg/dl) and TSH 2.69 IU/ml (normal range, 0.47–4.68 IU/ml) [44] . Finally, GH deficiency and hypogonadotropic hypogonadism have been also reported in SWS patients [45] , [46] .…”

“…Another two cases of SWS with low FT4 and presumable CH were reported elsewhere [43] . Very recently, CH was reported in a 11-yr old boy with SWS [44] . He was familiarly predisposed to hypothyroidism in both his maternal and paternal grandmother.…”

Sturge-Weber syndrome coexisting with polydactyly: a case report

“…The neurological symptoms of SWS are believed to be the results of vascular stasis and poor perfusion in the cortex beneath the leptomeningeal CM [ 3 , 10 ]. Furthermore, the disruption of hypothalamic-pituitary axis by SWS could also lead to endocrine complications, including growth hormone deficiency [ 9 ] and hypothyroidism [ 7 ]. However, the reported muscular involvement in SWS, such as idiopathic inflammatory myopathy [ 5 ] and rhabdomyolysis [ 8 ], should be more aligned with the term “co-morbidity”, rather than “complication”.…”