full Text in Thai

«“√ “√·æ∑¬å‡¢μ Ù-ı ªï∑’Ë ÛÒ ©∫—∫∑’Ë Ò ¡.§. - ¡’.§. Úııı
Reg 4-5 Med J Vol. 31 No. 1 January - March 2012
A Case Report
√“¬ß“πºŸâªÉ«¬
√“¬ß“πºŸâªÉ«¬‡¥Á°‚√§: Tuberous Sclerosis Complex
Tuberous Sclerosis Complex: A Case Study
Õ—®©√“ ÿ∑∏“«“ æ.∫.,
«.«. √—ß ’∑—Ë«‰ª
°≈ÿà¡ß“π√—ß ’«‘∑¬“
‚√ß欓∫“≈ª√–®«∫§’√’¢—π∏å
Autchara Suttawas M.D.,
Thai Board of Radiology
Division of Radiology
Prachuapkhirikhan Hospital
∫∑§—¥¬àÕ
√“¬ß“πºŸâªÉ«¬‡¥Á°À≠‘ßÕ“¬ÿ 1 ªï 10 ‡¥◊Õπ ¡“¥â«¬Õ“°“√™—°‡°√Áß μ√«®æ∫º◊Ëπ∑’Ë∫√‘‡«≥Àπâ“ ≈”μ—«·≈–·¢π¢“
‡Õ°´‡√¬å§Õ¡æ‘«‡μÕ√å ¡Õß·≈–°“√μ√«®¥â«¬§≈◊Ëπ‡ ’¬ß§«“¡∂’Ë Ÿß∑’Ë™àÕß∑âÕß æ∫≈—°…≥–¢Õß‚√§ tuberous sclerosis
complex
§” ”§—≠: ‚√§∑Ÿ‡∫Õ√— ‡§≈Õ‚√´‘ ‚√§∑“ßæ—π∏ÿ°√√¡‡°’ˬ«°—∫√–∫∫ª√– “∑„π‡¥Á°
ABSTRACT
A Thai girl presented with convulsion. Physical examination represented diffuse hypomelanotic macules
at face, trunk and bilateral extremities. Neurological examination was normal. CT scans showed cortical tubers
and subependymal nodules. Ultrasound KUB represented multiple cysts at both kidneys. Definite diagnosis
was tuberous sclerosis complex.
Keywords: tuberous sclerosis complex, Bourneville’s disease
∫∑π”
Tuberous sclerosis complex À√◊Õ Bournevilleûs
disease ‡ªìπ‚√§√–∫∫ neurocutaneous ∑’Ë∂à“¬∑Õ¥∑“ß
æ—π∏ÿ°√√¡·∫∫ autosomal dominant trait ‡π◊ËÕß®“°¡’
§«“¡º‘¥ª°μ‘¢Õß‚§√‚¡‚´¡§Ÿà∑’Ë 9 æ∫‰¥â‰¡à∫àÕ¬ §«“¡™ÿ°
„π°“√‡°‘¥‚√§ª√–¡“≥ 1 „π 10,000 ∂÷ß 1 „π 100,0001
“¡“√∂«‘π‘®©—¬‚√§‰¥â‚¥¬°“√μ√«®√à“ß°“¬·≈–º≈μ√«®
∑“ß√—ß ’«‘∑¬“ À≈—°„π°“√«‘π‘®©—¬‚√§π’ȧ◊Õ Õ“°“√™—°
ªí≠≠“ÕàÕπ ·≈–º◊Ëπº‘«Àπ—ß·∫∫ facial angiofibroma
æ∫≈—°…≥–∑’ˇ©æ“–§√∫„πºŸâªÉ«¬ª√–¡“≥√âÕ¬≈– 292
‡∑à“π—Èπ
‚√§π’ȇ™◊ËÕ«à“‡ªìπ‚√§∑’Ë¡’§«“¡º‘¥ª°μ‘¢Õß‚§√‚¡‚´¡
∑’Ë∑”Àπâ“∑’ˇªìπ tumor suppressors °“√ mutation ¢Õß
gene TSC 1 (encoding hamartin) ·≈– TSC 2 (encoding
«“√ “√·æ∑¬å‡¢μ 4-5
ªï∑’Ë 31 ©∫—∫∑’Ë 1 ¡°√“§¡-¡’π“§¡ 2555
tuberin) ∑”„À⇰‘¥ benign hamartomas „πÕ«—¬«–μà“ßÊ
¿“¬„π√à“ß°“¬ ‡™àπ º‘«Àπ—ß ¡Õß ‰μ ªÕ¥ À—«„® μ“
°√–¥Ÿ°3
§«“¡º‘¥ª°μ‘∫√‘‡«≥º‘«Àπ—ß®–æ∫≈—°…≥– facial
angiofibroma, forehead/scalp fibrous plaque, peri/subungual fibroma, hypomelanotic macules À√◊Õ shagreen
patches
§«“¡º‘ ¥ ª°μ‘ ¢ Õß ¡Õß·≈–√–∫∫ª√– “∑ à « π
°≈“ß æ∫¿“«–™—° ªí≠≠“ÕàÕπ À√◊ÕÕ“°“√∑“ß®‘쇫™
®“°°“√‡°‘¥ hamartoma „π ¡Õß ‡¡◊ËÕμ√«®∑“ß√—ß ’«‘∑¬“
¥â«¬‡Õ°´‡√¬å§Õ¡æ‘«‡μÕ√å (CT) À√◊Õ§≈◊Ëπ·¡à‡À≈Á°‰øøÑ“
(MRI) ®–æ∫ cortical tuber, white matter abnormality,
subependymal benign nodule À√◊Õ subependymal giant
cell astrocytoma
§«“¡º‘ ¥ ª°μ‘ ¢ Õß√–∫∫°“√¡Õ߇ÀÁ π „πºŸâ ªÉ « ¬
90
√“¬ß“πºŸâªÉ«¬‡¥Á°‚√§: Tuberous Sclerosis Complex
tuberous sclerosis ‰¥â·°à hamartoma ∑’Ë retina æ∫
ª√–¡“≥√âÕ¬≈– 501,4 §«“¡º‘¥ª°μ‘„πÕ«—¬«–Õ◊ËπÊ ‡™àπ
∑’˪եæ∫ pulmonary lymphangioleiomyomatosis „π
À—«„® æ∫ cardiac rhabdomyoma πÕ°®“°π’Ȭ—ßæ∫ renal
angio-myolipoma, renal cysts, oncocytoma À√◊Õ renal cell
carcinoma ∑’Ë ‰ 쉥â √–∫∫°√–¥Ÿ ° ·≈–°≈â “ ¡‡π◊È Õ æ∫
sclerotic À√◊Õ cyst ∑’Ë°√–¥Ÿ° pelvis, lumbar spine À√◊Õ
phalanges ‡ªìπμâπ
‡°≥±å„πªí®®ÿ∫—π ”À√—∫°“√«‘π‘®©—¬‚√§ tuberous
sclerosis μ“¡μ“√“ß∑’Ë 1
°“√«‘π‘®©—¬ ÿ¥∑⓬ (definite diagnosis) §◊Õ æ∫
≈—°…≥– 2 major À√◊Õ 1 major °—∫ 2 minor °“√«‘π‘®©—¬
«à“‡ªìπ‚√§ (probable diagnosis) §◊Õæ∫≈—°…≥– 1 major
°—∫ 1 minor à«π°“√«‘π‘®©—¬«à“πà“®–‡ªìπ‚√§ (possible
diagnosis) §◊Õæ∫≈—°…≥– 1 major À√◊Õ ≥ 2 minor
μ“√“ß∑’Ë 1 · ¥ß‡°≥±å°“√«‘π‘®©—¬‚√§ tuberous sclerosis complex5
Major features
Facial angiofibromas or forehead plaque
Ungual or periungual fibroma
More than three hypomelanotic macules
Shagreen patch
Multiple retinal nodular hamartoma
Cortical tuberous lesion
Subependymal nodule
Subependymal giant cell astrocytoma
Cardiac rhabdomyoma(s)
Lymphangioleiomyomatosis
Renal angiomyolipoma
Minor features
Multiple random pits in dental enamel
Hamartomatous rectal polyps
Bone cysts
Cerebral white matter radial migration lines
Gingival fibroma
Nonrenal hamartoma
Retinal achromic patch
Confetti skin lesion
Multiple renal cysts
Region 4-5 Medical Journal
Vol. 31 No. 1 January-March 2012
√“¬ß“πºŸâªÉ«¬
ºŸâªÉ«¬‡¥Á°À≠‘ß Õ“¬ÿ 1 ªï 10 ‡¥◊Õπ ¡“¥â«¬Õ“°“√
™—°‡°√Áß∑—Èßμ—« ª√–¡“≥ 1 π“∑’ ‰¡à°√–μÿ° ¡“√¥“‡√’¬°
√Ÿâ ÷°μ—«¥’ ¡’ª√–«—μ‘™—°‡«≈“‰¢â Ÿßμ—Èß·μàÕ“¬ÿ‰¥â 6 ‡¥◊Õπ
ª√–¡“≥ 3 §√—Èß
μ√«®√à “ ß°“¬ ‰¡à æ ∫§«“¡º‘ ¥ ª°μ‘ ∑ “ß√–∫∫
ª√– “∑ ∑’Ë∫√‘‡«≥º‘«Àπ—ß∑’ËÀπâ“ ·¢π ¢“ ·≈–≈”μ—«
æ∫≈—°…≥– hypomelanotic macules ¥—ß√Ÿª∑’Ë 1 ·≈– 2
º≈°“√μ√«®∑“ßÀâÕߪؑ∫—μ‘°“√
ª°μ‘
º≈μ√«®∑“ß√—ß ’«‘∑¬“
CT scan of brain
Findings: There is an enhancing subependymal
nodule with calcification at frontal horn of the left lateral
ventricle which adjacent to foramen of Monro, about
0.6-cm diameter. Evidence of low density cortical/
subcortical lesions at both cerebral hemispheres are
observed.
Impression: Tuberous sclerosis complex
91
Tuberous Sclerosis Complex : A Case Study
US whole abdomen
Findings: There are multiple varying in size of
cystic lesions at both kidneys with enlarge size of
both kidneys.
Impression: Multiple cysts at both kidneys
º≈°“√¥”‡π‘π‚√§
ºŸâ ªÉ « ¬‰¥â √— ∫ ¬“°— π ™— ° ‡æ◊Ë Õ §«∫§ÿ ¡ Õ“°“√¥â « ¬¬“
Depakine ·≈–μ‘ ¥ μ“¡º≈°“√√— ° …“ª√— ∫ ¬“μ“¡§«“¡
‡À¡“– ¡ ÿ¥∑⓬‰¥â àßμàÕ√—∫°“√√—°…“∑’Ë ∂“∫—π ÿ¢¿“æ
‡¥Á°·Ààß™“μ‘¡À“√“™‘π’
«‘®“√≥å
Tuberous sclerosis complex À√◊Õ Bournevilleûs
disease ‡ªìπ‚√§∑’Ë∂à“¬∑Õ¥∑“ßæ—π∏ÿ°√√¡·∫∫ autosomal
dominant trait ‡π◊ËÕß®“°¡’§«“¡º‘¥ª°μ‘¢Õß‚§√‚¡‚´¡
§Ÿà∑’Ë 9 àߺ≈μàÕÕ«—¬«–¿“¬„π√à“ß°“¬À≈“¬√–∫∫ ®“°
°“√‡°‘¥ hamartoma
ºŸâªÉ«¬√“¬π’Èμ√«®√à“ß°“¬æ∫≈—°…≥–º◊Ëπº‘«Àπ—ß
·∫∫ hypomelanotic macules ¡’≈—°…≥–§≈⓬„∫‰¡â
(ash-leaf spot) ∑’Ë∫√‘‡«≥Àπâ“ ≈”μ—« ·¢π·≈–¢“ ®”π«π
√Ÿª∑’Ë 1-2 · ¥ß≈—°…≥– multiple hypomelanotic macules ∑’Ë∫√‘‡«≥Àπâ“ ≈”μ—«·≈–¢“
«“√ “√·æ∑¬å‡¢μ 4-5
ªï∑’Ë 31 ©∫—∫∑’Ë 1 ¡°√“§¡-¡’π“§¡ 2555
92
√“¬ß“πºŸâªÉ«¬‡¥Á°‚√§: Tuberous Sclerosis Complex
√Ÿª∑’Ë 3-6 §Õ¡æ‘«‡μÕ√å‡Õ°´‡√¬å ¡Õß°àÕπ·≈–À≈—ß°“√©’¥ “√∑÷∫√—ß ’ æ∫ cortical tubers ·≈– calcified subependymal
nodule
¡“° √à«¡°—∫¡’¿“«–™—°√à«¡¥â«¬ §«“¡πà“®–‡ªìπ¢Õß‚√§
tuberous sclerosis ‡ªìπ‰ª‰¥â¡“° ®÷ß¡’°“√ àßμ√«®∑“ß
√—ß ’«‘∑¬“‡æ◊ËÕ¬◊π¬—π‚√§
ª√–«—μ‘Õ“°“√™—°·≈–º≈‡Õ°´‡√¬å§Õ¡æ‘«‡μÕ√å¢Õß
ºŸâªÉ«¬√“¬π’È¡’§«“¡ —¡æ—π∏å°—∫°“√‡°‘¥ hamartoma „π
‡π◊ÈÕ ¡Õß À√◊Õ cortical tubers ∑’Ë∫√‘‡«≥ ¡Õß à«π frontal
·≈– temporal ‚¥¬°“√»÷°…“ æ∫«à“√âÕ¬≈– 50 ¢Õß
cortical tubers ®–æ∫∑’Ë ¡Õß∫√‘‡«≥ frontal lobe ·≈–
‡¡◊ËÕ‡°‘¥ cortical tuber ®”π«π¡“°®– àߺ≈μàÕ°“√√—°…“
·≈–§«∫§ÿ¡¿“«–™—°‰¥â‰¡à¥’ ¡’‚Õ°“ ‡°‘¥§«“¡º‘¥ª°μ‘
Region 4-5 Medical Journal
Vol. 31 No. 1 January-March 2012
93
Tuberous Sclerosis Complex : A Case Study
√Ÿª∑’Ë 7-8 °“√μ√«®§≈◊Ëπ‡ ’¬ß§«“¡∂’Ë Ÿß¢Õ߉μæ∫∂ÿßπÈ”∑’ˉμ∑—Èß Õߢâ“ß
¢Õß°“√√—∫√Ÿâ·≈–°“√‡°‘¥ autistic6-7 πÕ°®“°π’È®”π«π·≈–
μ”·Àπà ß ¢Õß subependymal nodule ¡’ § «“¡ ”§— ≠
„π°“√∑”𓬧«“¡√ÿπ·√ߢÕß‚√§∑“ß√–∫∫ª√– “∑8 ‡ªìπ
∑’ˬա√—∫«à“ subdependymal nodule ¡’°“√‡ª≈’ˬπ·ª≈ß
Õ¬à“ß™â“Ê ‡ªìπ subependymal giant cell astrocytoma
æ∫‰¥âμ—Èß·μà„π§√√¿å¡“√¥“ ‚¥¬ à«π„À≠à¡—°æ∫„π™à«ß
Õ“¬ÿ 8-18 ªï9
≈—°…≥–¿“æ∑“ß√—ß ’«‘∑¬“‚√§ tuberous sclerosis
®“°øî≈å¡°–‚À≈°»’√…– (skull film) Õ“®æ∫À‘πªŸπ (calcification) °√–®“¬√Õ∫Ê ventricle ‡Õ°´‡√¬å§Õ¡æ‘«‡μÕ√å
¡Õß∫√‘‡«≥ cortical tuber ®–æ∫ decreased attenuation
∫√‘‡«≥ cortex ·≈–Õ“®æ∫≈—°…≥–¢ÕßÀ‘πªŸπ√à«¡¥â«¬
à«π∫√‘‡«≥√Õ∫Ê ventricle æ∫ subependymal nodule
√à«¡°—∫À‘πªŸπ‰¥â ∂â“¡’°“√‡ª≈’ˬπ·ª≈߇ªìπ giant cell
astrocytoma ¡—°æ∫∫√‘‡«≥ foramen of Monro ·≈–∑”„Àâ
‡°‘¥¿“«– hydrocephalus °“√ àßμ√«®§≈◊Ëπ·¡à‡À≈Á°‰øøÑ“
“¡“√∂«‘π‘®©—¬ cortical tuber ‰¥â¥’°«à“‡Õ°´‡√¬å§Õ¡-æ‘«‡μÕ√å ‚¥¬æ∫ low to intermediate signal T1W ·≈–
high signal T2W √âÕ¬≈– 10 ¢Õß cortical tuber æ∫«à“¡’°“√
enhancement À≈—ß©’¥ “√∑÷∫√—ß ’ à«π subependymal
nodule À≈—ß©’¥ “√∑÷∫√—ß ’æ∫«à“¡’ enhancement ‰¥â
ª√–¡“≥√â Õ ¬≈– 30 °“√μ√«®§≈◊Ë π ·¡à ‡ À≈Á ° ‰øøÑ “ ¬— ß
æ∫§«“¡º‘¥ª°μ‘¢Õß ¡Õß∫√‘‡«≥ white matter ∑’ËμàÕ
‡π◊ËÕß®“° subependymal nodule ·≈– cortical tuber ‚¥¬
æ∫≈—°…≥– high signal T2W1
°“√μ√«®¥â « ¬§≈◊Ë π ‡ ’ ¬ ߧ«“¡∂’Ë Ÿ ß ‡æ‘Ë ¡ „πºŸâ ªÉ « ¬
√“¬π’Èæ∫∂ÿßπÈ”∑’ˉμ∑—Èß Õߢâ“ß ®“°°“√»÷°…“¢Õß Stillwell
TJ et al10 ¡’√“¬ß“π°“√‡°‘¥∂ÿßπÈ”∑’ˉμ„π‚√§ tuberous
sclerosis complex ª√–¡“≥√âÕ¬≈– 18-53 à«π¡“°
æ∫„π‡¥Á°Õ“¬ÿπâÕ¬·≈–‰¡à¡’Õ“°“√ μà“ß°—∫§«“¡º‘¥ª°μ‘
„π‰μ·∫∫ angiomyolipoma ´÷Ëßæ∫‰¥â∫àÕ¬°«à“ ¡—°æ∫
„πºŸâ „ À≠à ·≈–¡’ Õ “°“√· ¥ß¡“°°«à “ °“√μ√«®∑“ß
√—ß ’«‘∑¬“‚¥¬‡Õ°´‡√¬å§Õ¡æ‘«‡μÕ√å¢Õß angiomyolipoma
æ∫«à“°âÕπ¡’ à«πª√–°Õ∫¢Õ߉¢¡—π (intratumoral fat)
®“°‡°≥±å°“√«‘π‘®©—¬‚√§ tuberous sclerosis5
¢Õß revised clinical diagnostic criteria ºŸâªÉ«¬√“¬π’È¡’ 3
major ·≈– 1 minor features §◊Õ≈—°…≥–º‘«Àπ—ß·∫∫
hypomelanotic macules ¡“°°«à“ 3 μ”·Àπàß ‡Õ°´‡√¬å
§Õ¡æ‘«‡μÕ√å ¡Õßæ∫ cortical tubers, subependymal
nodule ·≈–Õ—≈μ√“´“«π¥åæ∫ renal cysts ≈—°…≥–
∑—ÈßÀ¡¥‡¢â“‰¥â°—∫‚√§ tuberous sclerosis complex
°“√√—°…“®–√—°…“μ“¡Õ“°“√· ¥ß ‡™à𠧫∫§ÿ¡
«“√ “√·æ∑¬å‡¢μ 4-5
ªï∑’Ë 31 ©∫—∫∑’Ë 1 ¡°√“§¡-¡’π“§¡ 2555
Õ“°“√™— ° ‚¥¬°“√„Àâ ¬ “°— π ™— ° °√≥’ ∑’Ë § «∫§ÿ ¡ ¥â « ¬¬“
‰¡à‰¥âº≈ Õ“®æ‘®“√≥“ºà“μ—¥ à«π¢Õß cortical tuber ∑’Ë
—¡æ—π∏å°—∫°“√™—°‡ªìπ°√≥’‰ª À√◊Õ°“√√—°…“·∫∫°√–μÿâπ
‡ âπª√– “∑ vagus (vagus nerve stimulation) ªí®®ÿ∫—π
¡’°“√»÷°…“‡√◊ËÕß°“√„™â mamalian Target of Rapamycin
(mTOR) inhibitors „πÀπŸ∑¥≈Õß´÷Ë߉¥âº≈μÕ∫ πÕߥ’„π
°“√√—°…“¿“«–™—°11 À√◊Õ°“√„™â¬“ Sirolimus ‡æ◊ËÕ≈¥
¢π“¥¢Õß angiomyolipoma „πºŸâªÉ«¬ tuberous sclerosis
complex12
√ÿª
Tuberous sclerosis complex ‡ªìπ‚√§∑“ßæ—π∏ÿ°√√¡ °“√¥”‡π‘π‚√§·≈–°“√欓°√≥å‚√§¢÷Èπ°—∫μ”·Àπàß
·≈–Õ«—¬«–∑’ˇ°‘¥ hamartoma ª√–«—쑧√Õ∫§√—« Õ“°“√
· ¥ß¢Õß‚√§·≈–º≈°“√μ√«®∑“ß√—ß ’«‘∑¬“¡’§«“¡ ”§—≠
„π°“√«‘π‘®©—¬ √—°…“·≈–欓°√≥å‚√§
‡Õ° “√Õâ“ßÕ‘ß
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