Tuberous sclerosis with multiple skin lesions
Keywords:
Tuberous sclerosis, neurofibromas, angiofibromas, seizures, hydrocephalus, Bourneville- Pringle diseaseAbstract
Tuberous sclerosis (TS) is an autosomal dominant neurocutaneous disorder characterized bya triad of epilepsy, mental retardation and adenoma sebaceum with multisystem involvement.We report a case of 22-year-old male who presented with the complaints of uncontrolledseizures since childhood associated with mental retardation and multiple skin lesions. He alsohad associated ventriculomegaly that was managed conservatively.References
O’Callaghan FJ, Shiell AW, Osborne
JP, Martyn CN. Prevalence of tuberous
sclerosis estimated by capture-recapture
analysis. Lancet 1998; 351: 1490.
Osborne JP, Fryer A, Webb D:
Epidemiology of tuberous sclerosis.
Ann N Y Acad Sci 1991, 615: 125-7.
Byard RW, Blumbergs PC, James RA.
Mechanisms of unexpected death in
tuberous sclerosis. J Forensic Sci 2003;
: 172-6.
Cassetty CT. Tuberous sclerosis
complex (Bourneville disease).
Dermatology Online Journal *: 10: 17-.
Herron J, Darrah R, Quaghebeur G.
Intracranial manifestations of the
neurocutaneous syndromes. Clin Radiol
; 55: 82-98.
Karbowniczek M, Yu J, Henske EP.
Renal angiomyolipomas from patients
with sporadic lymphangiomyomatosis
contain both neoplastic and nonneoplastic
vascular structures. Am J
Pathol 2003; 162: 491-500.
Pyrich M, Borowiec G. [Neural
endoscopy in hydrocephalus treatment
in a case of tuberous sclerosis] [Article
in Polish]. Neurol Neurochir Pol 1999;
: 227-34.
Crino PB, Henske EP. New
developments in the neurobiology of the
tuberous sclerosis complex. Neurology
; 53: 1384-90.
Maria BL, Deidrick MK, Roach SE,
Gutmann DH. Tuberous sclerosis
complex: pathogenesis, diagnosis,
strategies, therapies, and future research
directions. J Child Neurol 2004; 19:
-62.
Roach ES, Gomez MR, Northrup H:
Tuberous sclerosis complex consensus
conference: revised clinical diagnostic
criteria. J Child Neurol 1998, 13: 624-8.
Ridler K, Suckling J, Higgins N, Bolton
P, Bullmore E. Standardized whole
brain mapping of tubers and
subependymal nodules in tuberous
sclerosis complex. J Child Neurol 2004;
: 658-65.
Chong DY, Hirunwiwatkul P,
McKeever PE, Trobe JD. Papilledema
in obstructive hydrocephalus caused by
giant cell astrocytoma of tuberous
sclerosis. J Neuroophthalmol 2007; 27:
-4.
Johnson CL, Pedersen R. Tuberous
sclerosis. Medicine J 2002; 3: **
Alfaro Giner A. AnomalÃas del
desarrollo del sistema nervioso central.
En: Farreras Rozman. Medicina
Interna. Barcelona: Harcourt; 2000. p.
-16.
Anisya-Vasanth AV, Satishchandra P,
Nagaraja D et al. Spectrum of epilepsy
in tuberous sclerosis. Neurol India
; 52:**
Cuccia V, Zuccaro G, Sosa F et al.
Subependymal giant cell astrocytoma in
children with tuberous sclerosis. Child
Nerv Syst 2003; 19: 232-43.
Caprez C, Walling AD, Reimer CM.
Tuberous sclerosis complex in a young
woman diagnosed incidentally on the
basis of pregnancy ultrasonography.
South Med J 2004; 97: 512-5.
Franz DN. Non-neurologic
manifestations of tuberous sclerosis
complex. J Child Neurol 2004; 19: 690-
