Two children out of 83 (2.4%) with Sturge-Weber syndrome, who attended a multidisciplinary center at Johns Hopkins Hospital, Baltimore, MD, were found to have central hypothyroidism. The prevalence of hypothyroidism was 500-10,000 times that in the general population. Both patients (ages 7 and 12 years) received carbamazepine or oxcarbazepine for seizures, anticonvulsants known to cause abnormal thyroid function. Six (7.2%) of the 83 reported maternal hypothyroidism. An admitted limitation of the study was the lack of routine thyroid function studies during the study period of 2000-2007, leading to a posible underestimate of thyroid dysfunction. The 2 patients tested had clinical symptoms or signs of hypothyroidism and a family history of hypothyroidism. Thyroid function tests revealed a low free thyroxine and normal TSH. Months after initiation of levothyroxine, free thyroxine level returned to normal, skin, hair loss, and energy levels improved, headaches and recurrence of stroke-like episodes resolved, but the frequency and severity of seizures were unchanged. Evaluation of possible growth-hormone deficiency is planned following linear growth deceleration. [1]

COMMENT. These authors and associates recently described an increased prevalence of growth-hormone deficiency in patients with Sturge-Weber syndrome, 18-fold higher than in the general population [2]. On the basis of their current report of central hypothyroidism in 2.4% of cases, they recommend routine thyroid-function studies in patients with Sturge-Weber syndrome.

Russell and Rubinstein, in their Pathology of Tumors of the Nervous System (London, Arnold, 1959:72-92) classify cerebral vascular malformations in four groups: arteriovenous malformations, cavernous malformations, capillary telangiectases, and venous malformations. Sturge-Weber leptomeningeal angiomatosis (capillary angioma; telangiectasia) is mainly admixed with a venous malformation; cortical calcifications are found beneath the vascular malformation or localized to cortical tissue around the walls of smaller blood vessels [3].

Cavernous angiomas, typically located in the cerebral hemispheres, involving the Rolandic region, are uncommon in childhood but are responsible for 12% of intracranial hemorrhages due to vascular malformations [4]. The definition of cerebral cavernous malformations (CCM) is discussed in light of histopathological findings in 87 patients treated surgically at the Medical University of Vienna, Austria [5]. CCM is currently defined as a mulberry-like assembly of thin walled vascular sinusoids lined by a thin endothelium, with no intervening brain parenchyma, and surrounded by hemosiderin deposits and gliosis. These authors found intervening brain parenchyma between vessels in 70% of otherwise typical specimens, and they suggest a modification of the definition of CCM.