Second edition

09.qxd 3/10/08 9:39 AM Page 404
404 Congenital, developmental, and other childhood-onset disorders
Figure 9.1 This unenhanced computed tomography scan
demonstrates the serpiginous calcification seen in the Sturge–Weber
syndrome. (Reproduced from Gillespie and Jackson 2000.)
Course
With the exception of intellectual decrement seen in some
patients with frequent seizures, and of any decrements seen
secondary to stroke-like episodes, the overall course is for
the most part static.
Etiology
Neuropathologically (Roizen et al. 1972; Weber 1929;
Wohlwill and Yakovlev 1957), the hallmark of the disorder
is a unilateral leptomeningeal angiomatosis, primarily
venular in type, which, though often confined to the occipitoparietal
area, may extend forward to the frontal area
and, in some cases, may be bilateral (Bebin and Gomez
1988). In the subjacent cortex there is calcification in the
walls of small arteries, free calcium deposits within the
brain parenchyma, and neuronal loss and gliosis.
The vast majority of cases are sporadic.
Differential diagnosis
The combination of a facial port-wine stain, seizures, and
cortical calcification is pathognomonic for Sturge–Weber
syndrome. In those rare cases in which the port-wine stain
is absent, consideration is given to celiac disease, characterized
by occipital calcification and seizures. It must also be
borne in mind that isolated port-wine stains are not at all
uncommon, and that the diagnosis of Sturge–Weber
syndrome should never be made on the basis of a portwine
stain alone.
Treatment
Given the association of seizures with intellectual decrement,
vigorous treatment with anti-epilepsy drugs (AEDs)
is imperative. In treatment-resistant cases, consideration
should be given to neurosurgical intervention
(Arzimanoglou et al. 2000). Given the possibility of strokelike
episodes, many physicians will also treat patients prophylactically
with aspirin. The port-wine stain may be
treated with laser surgery; glaucoma is treated in the usual
way, and, in cases in which glaucoma is absent, yearly
monitoring of intraocular pressure is indicated. The treatment
of mental retardation is discussed in Section 5.5.
9.2 TUBEROUS SCLEROSIS
Tuberous sclerosis, also known as Bourneville’s disease or
epiloia, is a rare genetic disorder presenting, classically, with
the triad of seizures, mental retardation, and a particular
skin lesion known as adenoma sebaceum (Alsen et al. 1994;
Critchley and Earl 1932; Devlin et al. 2006; Lagos and Gomez
1967; Monaghan et al. 1981; Pampiglione and Moynahan
1976; Ross and Dickerson 1943; Webb and Osborne 1995).
Although brain lesions, known as tubers, figure most
prominently in this disorder, it must be borne in mind that
tuberous sclerosis is a systemic disease, with additional
lesions in the skin, eye, kidneys, heart, and lungs.
Clinical features
In most cases, the first sign of tuberous sclerosis is the presence
of hypomelanotic macules, evident in 90 percent or
more of affected infants. These macules, which are best seen
with Wood’s light, range in size from a few millimeters to
2 or 3 cm, and are sometimes oval shaped, giving rise to the
name ‘ash leaf’ spots. Additional skin lesions include adenoma
sebaceum and what are known as ‘shagreen patches’.
Adenoma sebaceum typically appears gradually in early
childhood and is present in over 90 percent of those over
the age of 4 years; it consists of multiple minute facial nodules,
generally arranged in a symmetrical butterfly shape
over the nose, cheeks, and chin, with, typically, sparing of
the upper lip. Shagreen patches are leathery-appearing
areas, most frequently seen in the lumbar region.
Seizures may first appear at any point in childhood, adolescence,
or even late adult years (Gutowski and Murphy
1992). Seizures appearing in the first 2 years of life are generally
of the ‘salaam’ or infantile spasm type (Roth and
Epstein 1971). Other seizure types, especially complex partial
and grand mal seizures, may also appear, not only, as it