|
<Brief
History>
A 24 year-old man suffered from intermittent left flank
pain associated with nausea and vomiting for five months.
This young man has had many skin
lesions since his birth (Figure
1A )(Figure
1B). At the age of seven, he gave a history of two
episodes of initially partial then generalized tonic-clonic
seizures. An EEG at that time revealed a partial epileptic
focus over left cerebrum, and a brain CT disclosed
calcification over bilateral lateral ventricles (Figure
2A)(Figure
2B
).
The WISE intelligent test was normal. He received a routine
eye ground checkup in 2001, which revealed bilateral retinal
harmatomas. In Oct. 2002, he developed a sudden onset left
abdominal pain with radiation to back, the symptoms improved
with the treatment of some herbal medication.
In Feb. 2003, a more severe episode of
left flank pain recurred associated with gross hematuria at
the same time. Physical examinations were essentially normal
except for the skin lesions. His skin was notable for
scattered small red-purple papular lesions over his face, and
several hypo-pigmented patches on his trunk and forearms.
Erythematous nodules on the nail beds of both hands and feet
were also noted. The abdomen was soft on palpation without
significant flank knocking pain. Abdominal CT revealed
bilateral renal and hepatic tumors with hemorrhage of a left
renal tumor (Figure
3A)(Figure
3B
).
. He was then admitted to hospital for further evaluation
and management.
<Laboratory and Image
Study>
1. CBC/DC & coagulation
profiles:
|
Date |
WBC
K/μL |
RBC
M/μL |
Hgb
g/dL |
Hct
% |
MCV
fL |
MCH
pg |
MCHC
g/dL |
Plt
K/μL |
|
920221 |
12.3 |
3.55 |
9.6 |
29.2 |
82.3 |
27.0 |
32.9 |
489 |
|
920313 |
6.54 |
3.71 |
10.1 |
30.5 |
82.2 |
27.2 |
33.1 |
423 |
|
Date |
Blast |
Meta |
Band |
Seg |
Eos |
Baso |
Mono |
Lym |
|
920221 |
0 |
0 |
0 |
75.1 |
1.4 |
0.2 |
7.6 |
15.7 |
|
920313 |
0 |
0 |
0 |
60.0 |
2.9 |
0.6 |
6.4 |
30.1 |
|
Date/Sec |
PT |
PT control |
INR |
aPTT |
aPTT control |
|
920221 |
15.9 |
12.2 |
1.3 |
36.5 |
37.2 |
|
920304 |
15.9 |
12.5 |
1.3 |
33.2 |
36.5 |
2. Biochemistry
|
Date |
BUN
mg/dl |
Cre
mg/dl |
Na
mmol/l |
K
mmol/l |
Cl
mmol/l |
Ca
mmol/l |
P
mmol/l |
|
920221 |
14.3 |
0.93 |
135.1 |
4.54 |
99.0 |
2.02 |
3.86 |
|
920313 |
|
0.86 |
139.0 |
4.31 |
|
|
|
|
Date |
Mg
mmol/l |
GOT
U/l |
T/D-Bil
mg/dl |
LDH
U/l |
Amylase
U/l |
Lipase
U/l |
CRP
mg/dl |
|
920221 |
0.89 |
34.0 |
0.25/ |
|
<66 |
25.0 |
|
|
920313 |
|
|
|
1037 |
3.9 |
4.1 |
2.42 |
3. Urine analysis:
|
Date |
Appearance |
Sp. gr |
pH |
Protein
mg/dL |
Glu
g/dL |
Ketones |
O.B |
Urobil
EU/dL |
Bil |
|
920213 |
Y;T |
1.020 |
6.0 |
25 |
- |
- |
4+ |
8 |
- |
|
920222 |
Y,C |
1.026 |
6.0 |
30 |
- |
- |
1+ |
0.1 |
- |
|
920311 |
Y,C |
1.020 |
6.0 |
+/- |
- |
- |
2+ |
0.1 |
- |
|
Date |
Nitrite |
WBC |
RBC/HPF |
WBC/HPF |
EpithCell/HPF |
Cast/LPF |
Crystal |
Bact |
|
920213 |
- |
Trace |
>500 |
14 |
0 |
- |
- |
- |
|
920222
|
- |
- |
30-35 |
2-5 |
- |
- |
- |
- |
|
920311 |
- |
- |
2-4 |
7-10 |
- |
- |
Ampo-P |
- |
24 hours urine analysis:
Volume 2000cc; Ucr=
61.4mg/dl, Uprotein=0.014g/dl
Ccr=91.7cc/min; DPL=0.28g/d
<Course and
Treatment>
He was diagnosed with hemorrhage of a left renal
angiomyolipoma and was treated with acetaminophen for pain
control. A chest x-ray film revealed diffuse interstitial
infiltration in the bilateral lung fields. Brain CT revealed
multiple calcified nodules at bilateral ventricular walls. A
dilated fundus exam showed bilateral retinal phakomas.
Tuberous sclerosis involved brain, skin, retina, liver and
bilateral kidney was diagnosed.
Since the left flank pain became more severe and could not
be relieved by regular analgesics, he began to require
narcotics for pain control. After consulting an urologist, he
received a scheduled angiography of left renal artery which
revealed bleeding from an aneurismal branched vessel. Coil
embolization of the vessel was performed smoothly and his
fever and flank pain subsided gradually with no significant
complication. The analgesic was tapered to acetaminophen. He
was discharged in smooth condition after 18 days of
admission.
<Analysis>
Tuberous sclerosis is a complex disease with
multiple system involvement, so it is favorable to be called
tuberous sclerosis complex (TSC) now. It is an autosomal
dominant disease with variable presentations. The prevalence
of TSC is about 1:10000. Principal signs are seizures, mental
retardation, and facial angiofibroma. Studies of large
families provide evidence of two susceptibility genes for TSC,
one named TSC1 on chromosome 9q34 and the other named TSC2 on
chromosome 16p13. The TSC2 gene lies directly adjacent to the
PKD1 (polycystic kidney disease 1). The diagnosis of TSC is
based on clinical, radiological, and histopathological
findings, and DNA study can also be suggested (Table
1).
TSC is characterize by hamartomas in
many organs, including cysts and angiomyolipomas (AML) in
kidney and liver, cortical tubers in the brain, astrocytomas,
retinal hamartomas and rhabdomyomas of the heart. Skin
manifestations are facial angiofibromas (adenoma sebacemum),
hypomelanotic macules (ash-leaf spots), and ungula fibromas.
Our patient has all the typical manifestations mentioned
above, and TSC was diagnosed readily. The renal complications
include retroperitoneal hemorrhage due to bleeding AML, ESRD,
and occasionally renal cell carcinoma (RCC). Leading causes of
death are neurological complication and renal
disease.
This young man suffered from renal
AML hemorrhage and presented as flank pain with gross
hematuria. The renal tumor was suspected to be AML by CT imaging. The
way to control AML hemorrhage is mainly supportive,
but nephron-sparing therapy, angiographic embolization
and enucleation, partial nephrectomy, complete
nephretomy, cryotherapy can also be applied. In our patients, based on
the young age and bilateral multiple AMLs, so
selective embolization was performed rather than nephrectomy. Because
of the TSC2 and PKD1 gene linkage, RCC of the kidney can
also exist in TSC patients'kidney. Long-term follow-up with image
studies is mandatory.
<Reference>
1. Neurology 1982;35:600-3.
2.
Journal of Child Neurology 1992;7:221-4.
3. Primer on
Kidney Disease. 3rd ed, 2001. National Kidney Foundation.
表一
Diagnostic criteria for tuberous
sclerosis complex (TSC)
Primary
features
Facial angiofibromas*
Multiple ungual
fibromas*
Cortical tuber (histologically confirmed)
Subependymal nodule or giantcell astrocytoma (histologically
confirmed)
Multiple calcified subependymal nodules
protuding into the ventricle (radiographic evidence)
Multiple retinal astrocytomas*
Secondary
features
Affected firstdegree relative
Cardiac
rhabdomyoma (histological or radiographic confirmation)
Other retinal hamartoma or achromic patch*
Cerebral
tubers (radiographic confirmation)
Noncalcified
subependymal nodules (radiographic confirmation)
Shagreen
patch*
Forehead plaque*
Pulmonary lymphangiomymatosis
(histological confirmation)
Renal angiomyolipoma
(radiographic or histological confirmation)
Renal cysts
(histological confirmation)
Tertiary
features
Hypomelanotic macules*
Confetti
skin lesions*
Renal cysts (radiographic evidence)
Randomly distributed enamel pits in deciduous and/or permanent
teeth
Hamartomatous rectal polyps (histological
confirmation)
Bone cysts (radiographic evidence)
Pulmonary lymphangiomatosis (radiographic evidence)
Cerebral white matter migration tracts or heterotopias
(radiographic evidence)
Gingival fibromas* Hamartoma of
other organs (histological confirmation)
Infantile spasms
Definite TSC: Either one
primary feature, two secondary features, or one secondary plus
two tertiary features
Probable TSC: Either one secondary
feature plus one tertiary feature, or three tertiary
features
Suspect TSC: Either one secondary feature or two
tertiary
features
* Histological confirmation is not required
if the lesion is clinically
obvious | 
Case Discussion
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