Rakhmadi Sya’ban Nur

Pembimbing
Dr. M. Luthfi Widiastono, Sp.S
 Kelainan genetik
 Manifestasi klinik bervariasi
 Tubercle pada otak
 Semua kelompok etnik
 Semua jenis kelamin
 Prevalensi pd bayi lahir hidup = 10-16 /
100.000 kelahiran
 Prevalensi total = 7 – 12 / 100.000 jiwa
 Bayi & anak  epilepsi, autisme, ggl jantung
 Dewasa  ggl ginjal, pulmoner, kulit, neuro
 1835 & 1850  ruam aneh pada kulit
 1862  kasus lengkap von Recklinghausen
 1880  Bourneville  karakteristik,
penamaan (Bournville’s disease)
 1908  Vogt  trias Dx TSC : epilepsi, idiot,
adenoma sebaceum (angiofibroma fascial)
 1979  Gomez
 1992 & 1997  lokus gen TSC1 & TSC2
 2002  Rapamycin
 Autosomal dominan
 Pita kromosom 9q34  TSC1
 Pita kromosom 16p13  TSC2
 TSC2  tuberin  activator GTP-ase
 supresor tumor
 TSC1  hamartin  supressor tumor
LESI PADA GINJAL
 Angiomyolipoma renal
 Vaskuler, otot polos imatur, sel lipid
 Bilateral, multipel
 USG, MRI, CT scan
 Aneurisma  risiko bleeding  
 Policystic kidney disease dan Ca ginjal
MANIFESTASI PULMONER
 Limfangiomyomatosis
 Wanita
 Proliferasi abnormal sel otot polos
 Perubahan cystic parenkim paru
 Usia dewasa
 Dispneu / pneumothoraks
MANIFESTASI NEUROLOGIS
 Epilepsi, gangguan kognisi, gangguan tingkah
laku (autisme)
 Tuber korteks serebri
 6 lap korteks hilang, neuron dismorfik,
astrosit besar, giant cell
 Kalsifikasi / degenerasi kistik
 Epilepsi  70-80 %  semua tipe kejang
 Kejang refrakter  intervensi bedah
Cont’d…
 Cont’d…
 Spasme infantil  prognosis buruk,
retardasi mental
 20 – 30 % bayi TSC
 Tx : vigibantrin
 >>> tuber (> 7)  spasme infantil / epilepsi
refrakter
 Subependymal giant cell tumor (10%) 
hidrosefalus/TIK/
LESI PADA JANTUNG
 Rhabdomyoma cardiale
 USG pada janin
 Dapat hilang spontan pd dewasa
 Dihubungkan dg :
 Ggl ginjal pd bayi
 Disritmia jantung
 Atrial takikardia
 Ventrikular takikardia
 Blok jantung komplit
 Sindroma Wolff-Parkinson-White
LESI PADA KULIT
 Adenoma sebaecum
 Masa anak / awal remaja
 = angiofibroma
 Makula kemerahan, datar, eritematosus,
papulonodular, easily to bleed
LESI OKULER
 50-80 %
 Astrositoma retinal
 Lesi bulat, nodular/lobular, kalsifikasi 
keputihan
 Asimptomatis
 Tidak memerlukan tindakan khusus
 Bila di fovea  mengganggu tajam
penglihatan
LESI PADA GIGI
 Cekungan pd enamel
 Jumlah banyak (>14)
 Fibroma ginggiva (70%)  iritasi lokal &
susunan gigi geligi terganggu  reseksi
bedah
LESI PADA ORGAN LAIN
 Hamartoma & poliposis pd gaster, usus, colon
 Hepatic cyst & AMLs hepatik
 Sklerosis dan hipertrofi pada tulang
 Aneurisma arterial
 Gejala ~ usia ps.
 Jantung  bayi
 Kejang, autism,
hambatan
pertumbuhan 
bayi/anak
 Angiofibroma 
anak/remaja
 HT/PcKD  bayi/anak
 Pulmoner  dekade
ke 2 atau 3
 Riwayat keluarga  identifikasi satu atau
lebih manifestasi TSC pd tingkat ayah/ibu
dan/atau pd tingkat kakek/nenek
 TSC  2 mayor / 1 mayor + 2 minor
 Probable TSC  1 mayor + 1 minor
 Suspect TSC  1 mayor dan/atau 2/lebih
minor
 Identifikasimutasi genetik
 Memonitor pengobatan antiepilepsi
 Memantau efek samping obat
 Fungsi ginjal
 Penyakit pulmoner
 CT scan
 Tuber korteks  massa hipodens
 Nodul subependim  vent II (di dalam)  hiperdens
dg kontras i.v.
 SEGA  dekat for. Monroe  inhomogen  hiperdens
(+kontras)
 MRI
 Terbaik
 Tuber korteks  sesuai umur
 Neonatus/anak  T1 hiperintens, T2 hipointens
 Remaja/dewasa  T1 iso/hipo
 Hiperintens relatif th subst. alba
 SEGA  inhomogen, hiperintens (+kontras)
Media file 1: Enhancing subependymal nodules, including a
Media file 2: Hydrocephalus from a
probable giant cell astrocytoma in the region of the foramen
subependymal giant cell astrocytoma in a
of Monro. Subependymal nodules may increase in size over
patient with tuberous sclerosis. The patient
time from one scan to the next, and then stabilize. This
presented with acute blindness and ataxia.
lesion had not changed with serial imaging over 2 years.
The patient remains asymptomatic and is monitored closely
for any deterioration.
 Axial T2-weighted MRI in an
infant with tuberous sclerosis
shows multiple low-signal-
intensity subependymal and
cortical tubers.

Axial T1-weighted MRI in a 15-year-old

patient with tuberous sclerosis shows
tiny a subependymal nodule in the right
lateral ventricle (arrow). Another subtle
nodule is present near the left foramen
of Monro. Sagittal T1-weighted MRI in an infant with
tuberous sclerosis shows multiple
hyperintense cortical and subependymal
nodules.
 Kejang parsial kompleks
 Epilepsi dengan retardasi mental
 Glioblastoma multiforme
 Hidrosefalus
 West’s Syndrome
 Lennox-Gastaut’s Syndrome
 Rapamycin
 Obat AntiEpilepsi
 Intervensi bedah
 Reseksi kortikal fokal
 Corpus Callossotomy
 Stimulasi n. vagus
 FOLLOW UP
 Kejang berulang  perawatan RS
 AML  Perdarahan/hematuri  risiko 
 CKD  hemodialisa + manajemen HT & elektrolit
 LAM  MRS (pneumothoraks/dispneu)
 KOMPLIKASI
   epilepsi, hidrosefalus, aritmia, perdarahan,
ruptur aneurisma arteri
 Trauma
 Efek samping terapi
 PROGNOSIS
 Gangguan kognitif & perilaku