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반쪽거대뇌증을 동반한 결절성 경화증 1례
이윤정 이은혜 정민희 염미선 고태성․ ․ ․ ․
= Abstract =
A Case of Tuberous Sclerosis with Hemimegalencephaly
Yoon-Jung Lee, M.D., Eun-Hye Lee, M.D., Min-Hee Jung, M.D.
Mi-Sun Yum, M.D. and Tae-Sung Ko, M.D.
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine Hemimegalencephaly and tuberous sclerosis complex are distinct and rare conditions which are characterized by malformations of cortical developments. Hemimegalencephaly is a cerebral malformation of unknown pathophysiology characterized by asymmetry of the hemispheres and cortical dysplasia. Tuberous sclerosis complex(TSC) is an autosomal do- minant neurocutaneous disorder characterized by the formation of hamartomatous lesion in multiple organ systems. While they are currently thought to be unrelated, there are similar cases in the literature and it is conceivable that an abnormality in early cortical develop- ment could lead to both conditions in an individual. We report here a first Korean case of unusual association of hemimegalencephaly and tuberous sclerosis complex with mutation in the TSC2 gene, who presented initially frequent partial seizures and infantile spasms.
Key Words : Tuberous sclerosis, Hemimegalencephaly, Epilepsy
증 례
환 아 : 36
주 소 :
현병력 : 10
. 10-20
, 15-20
(Fig. 1).
출생력 : 3,400 g
.
가족력 : 10
B
2 6
.
진찰소견 : 56 cm(50-75
), 4.0 kg(25-50 ),
37.5 cm(75 ) .
(Fig. 2).
검사소견 :
1. : 11.0 g/dL, 13,100/
mm
3, 549,000/mm
3, 91 umol/L, 3.3 mmol/L, 10.7 mg/dL,
5.0 mg/dL, 7.1 mg/dL, 139 mmol/L, 4.7 mmol/L, 107 mmol/L.
2. : (Fig. 3A)
- ,
(Fig. 3B)
.
3. : (Fig.
4)
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, .
(Fig. 5)
Fig. 1. Her seizure semiology: a type of flexor spasm.
Fig. 2. Hypopigmented macule.
.
4. :
5×10 mm .
.
5. : TSC1 TSC2
DNA TSC1, 2
21 , 40 exon exon-intron boun-
dary TSC2
exon11 c.1229T>C(p.Leu410Pro) .
치료 경과 : Valproic acid, phenobarbital
30 . vigabatrin
(100 mg/kg/day
Fig. 3A. Asymmetric background activity withmutifocal spike dsicharges from left temporo-pari- etal, right occipital areas.
Fig. 3B. Rhythmic theta activities started from right frontal area, which spread to right hemisp- here during ictal event.
Fig. 4. Brain MRI showing hemimegalencephaly involving almost entire of right frontal & parietal lobes and characteristic features of tuberous scle- rosis complex.
Fig. 5. Brain CT showing hemimegalencephaly involving almost entire of right frontal & parietal lobes with calcifications.
)
valproic acid, phenobarbital zonisamide
10-30 .
고 찰
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