Headache, vomiting, and nystagmus : a case of cerebellar ...
Transcript of Headache, vomiting, and nystagmus : a case of cerebellar ...
耳 鼻 49 (補2): S81~S85, 2003
Headache, vomiting, and nystagmus : a case of
cerebellar hemangioblastomas
Hai-Bo SHI(1), Meiho NAKAYAMA(2), Lei CHENG, Min YIN(1),
Ryuichi KoNDA(3), Takeyuki SAMBE(4), Tomoya YAMAMOTO,
Sohtaro Ko-YAMA(5)and Akira MIYOSHI(6),(7)
Hemangioblastoma (HBL) is highly vascularized tumor of not well-defined histological origin. Cerebellar HBL may manifest as a sporadic tumor or act as
one of the manifestations of the von Hippel-Lindau syndrome (VHLS). Here we report a 36-year-old female patient with left cerebellar HBL. The patient
presented with back headache, nausea, vomiting, and clouding of consciousness. The symptoms were gotten serious in the morning and then relieved from
noon. Nystagmus was detected through spontaneous nystagmus test and
positional nystagmus test, both showing parallel or rotative nystagmus with leftward quick component operative resection of the lesion was performed via
osteoplastic craniotomy. The mural nodule was a reddish mass about 7 mm in diameter and about 10 ml self-transparent oil-liked liquid was elicited from the cyst. The tumor specimen showed typical histological features of hemangio-blastoma. Post - operative MRI scanning of the abdominal and spinal canal failed to reveal any stigmata of VHLS.
Key words : hemangioblastoma, von Hippel-Lindau syndrome, central
neural system, headache, nystagmus
Introduction
Hemangioblastoma (HBL) is highly vascu-
larized tumor of not well-defined histological
origin that is frequently associated with
cysts.1) HBL arises preferentially in cerebel-
lum, medulla and spinal cord and is his-
tologically indistinguishable from vascular
lesions in the retina. Cerebellar HBL is one
of the most frequent manifestations of the
autosomal dominantly inherited von Hippel-
Lindau syndrome (VHLS) and also may
manifest as a sporadic tumor.2) Although
the tumor is histological benign, its multi-
plicity and eloquent location still make it one of the major causes of death of the pa-
tients.3) Here we report a case of HBL in
the left cerebellar hemisphere.
Case report
A 36- year- old female patient was seen in
Miyoshi ENT Clinic, who presented with
back headache, nausea, vomiting, and cloud-
ing of consciousness. These symptoms were
gotten serious in the morning and then re-lieved from the noon. No hearing loss,
tinnitus or vertigo was complained. She had
no hereditary disease family history. There
were no positive findings about her nose,
pharynx, and larynx. Pure tone audiometry
showed a normal hearing curve between 15
dB and 30 dB. Neurological examination
showed normal findings. Nystagmus was
detected through spontaneous nystagmus
Corresponding author : Akira Miyoshi. Miyoshi ENT Clinic, Izumichuo 1-34-1, Izumi-ku, Sendai 981-3133, Japan
S 82 耳 鼻 と 臨 床 49 巻 補 2 号
test and positional nystagmus test, both
showing parallel or rotative nystagmus with
leftward quick component (Fig. 1). Consi-
dering the headache, spraying vomiting, and
the rotative nystagmus, central neural sys-
tem (CNS) disease was strongly suggested.
Then, computed tomography (CT) scan-
ning of the brain revealed a cystic lesion
with a mural nodule in the cerebellar left
hemisphere and showed mild hydrocephalus
with the IV th ventricular deformity due to
Figure 1 Spontaneous nystagmus test and
positional nystagmus test de-
tected parallel or rotative nys-
tagmus with leftward quick com-
ponent.
Figure 2 Axial plain computed tomography scanning
of the brain revealed a cystic lesion with a
mural nodule in the cerehellar left hemi-
sphere and showed mild hydrocephalus with the IV th ventricular deformity due to
dilated cyst at the left cerehellar hemi-
sphere.
dilated cyst at the left cerebellar hemisphere
(Fig. 2). The cystic components were hyper-
intense on T2 - weighted images (Fig. 3) .
The tumor was about 5 cm in diameter. No
other intracranial lesions were identified.
Retinal image showed mild retinal telang-
iectasia, but no reticuloblastoma was found
(Fig. 4). Cerebral angiography demonstrated
tumor staining in the capillary phase images,
fed by the posterior inferior cerebellar artery
(PICA) (Fig. 5).
Just after the cerebral angiography exami-
nation, the patient suffered from a serious
convulsion. At the same day, operative re-
section of the lesion was performed via
osteoplastic craniotomy. From the cyst , about 10 milliliter self - transparent oil- liked
Figure 3 The cystic components were hyperintense
on T2 - weighted images. The tumor was
about 5 cm in diameter.
Figure 4 Retinal image showed mild retinal telangi-
ectasia but no reticuloblastoma was found.
H-B Stu et al = Headache, vomiting, and nystagmus S83
Figure 5 Cerebral angiography demonstrated tumor
staining in the capillary phase images, fed
by the posterior inferior cerebellar artery.
liquid was elicited. The mural nodule was a
reddish mass about 7 mm in diameter, with
the appearance of a cluster of blood vessels.
A total resection was subsequently accom-
plished. The tumor specimen was stained
with hematoxylin and eosin, and showed
typical histological features of HBL. Post-
operative magnetic resonance imaging (MRI)
scanning of the abdominal and spinal canal
failed to reveal any stigmata of VHLS. The
patient recovered after operation and kept
follow-up.
Discussion
Intracranial HBL is benign neoplasm of
vascular origin occurring in the cerebellum,
brain stem, and spinal cord. They account
for about 2% - 3% of all intracranial tu-
mors.4) They may arise either as sporadic
lesions or in the setting of VHL disease, an
autosomal dominantly inherited disease, pre-
disposing to HBL of the CNS and retina,
clear cell renal carcinomas, pheochromocy-
tomas, endolymphatic sac tumors, and cysts
in different organs. While the cerebellum
(83%-95%) is the most frequent site of these
tumors, followed by spinal cord (3.2%-13%),
and medulla oblongata (2.1%).5)
Intracranial HBL is known to have three
morphologic patterns : a cyst with a small
mural nodule, a solid mass with a central
cystic component, and solid tumor without a
cystic component.6) The cyst occurring with-
in a solid tumor is usually thought to be di-
lated vascular spaces or degenerative regions.
On the other hand, the cystic fluid around
a mural nodule is considered as diffusion
from the vascular component of the mural
nodule. In the present patient, about 10 ml
yellowish, transparent cystic fluid was elic-
ited during operation. The cyst was found
surrounding the mural nodule. The left
PICA was the feeding artery and two main
veins were the drainers for the mural nodule.
The color of the veins was redder than
that of other vein and turned into normal
when the feeding artery was obstructed. It
might suggest that there was a higher blood
press in the capillary of the nodule and this
could contribute to the diffusion of vascular
components.
The diagnosis of cerebellar HBL is getting
easy by introduce of CT or MRI examina-
tion. The cerebellum is the most frequent
site of HBL, but these tumors also arise in
the medulla and spinal cord. A general ex-
amination is necessary for those patients
who had been detected HBL, especially in
cases of VHLS.
Cerebellar HBL is one of the most frequent
manifestations of the inherited VHLS. The
diagnosis of HBL is often connected with the
detection of the VHLS, but the present case
failed to reveal any stigmata of VHLS ac-
cording to the physical examination. Since
Latif et al successfully isolated the VHL gene
in 1993, genetic diagnosis of VHLS has be-
come available.7 Tse et al (1997) studied
the alterations of the VHL gene in HBL.8)
Allelic losses on chromosome 3p were ob-
served from two patients with VHLS in one
family and in one of two sporadic HBL. No
hypermethylations of the VHL gene was
S 84 耳 鼻 と 臨 床 49 巻 補 2 号
detected in any of the tumors that were ex-
amined. The results suggested that the
VHL tumor suppressor gene was the target
for inactivation in the tumor and was in-
volved in the pathogenesis of familial and
sporadic HBL. Recently, Lemeta et al (2002)9)
studied the cytogenetic changes in HBL. 22
cases were studied through comparative
genomic hybridization to screen for DNA copy number changes in both sporadic and
VHL - associated HBL. They found that 6 of
22 samples (27%) contained DNA copy num-
ber losses, whereas no gains were observed.
The loss of chromosomal arm 6q, 3, and 8
was observed in five, two, and one cases, re-
spectively. No differences were noted be-
tween VHL - associated and sporadic tumors,
nor did the cytogenetic aberrations correlate
with the clinical outcome. The authors con-
sidered that the chromosome area might con-
tain tumor suppressor genes involved in the
early steps of tumorigenesis.
Complete removal of the mural nodule is
the treatment of choice. On the other hand,
Gamma knife radio-surgery has been proved
as an efficient method to control HBL.
Niemela et al10) found that a solitary small-
or medium - sized HBL usually shrinked or
stopped growing after radio - surgery. The
recommended margin dose was 10 to 15 Gy.
The adjoining cyst often did not respond to
radio-surgery but requires later, sometimes
repeated evacuation.
References
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Schwartz JH (eds), pp381-384, Armed Forces Institute of Pathology, Washing DC, 1994.
2) Neumann HP and Wiestler OD : Clustering of features of von Hippel - Lindau syndrome -
evidence for a complex genetic locus -. Lancet 337 : 1052-1054, 1991.
3) Bohling T et al : von Hippel-Lindau disease and capillary haemangioblastoma. Pathology
and genetics of tumours of the nervous sys- tem. Kleihues P and Cavenee WK, pp223-226,
World Health Organization International Agency for Research on Cancer, Lyon, 2000.
4) Matsumoto K and Kannuki S : Hemangio- blastoma and von Hippel - Lindau disease.
Nippon Rinsho 53 : 2672-2677, 1995. 5) Constans JP et al : Posterior fossa heman-
gioblastomas. Surg Neurol 25 : 269-275, 1986. 6) Elster AD and Arthur DW : Intracranial
hemangioblastomas -CT and MR findings-. J Comput Assist Tomogr 12 : 736-739, 1988.
7) Latif F et al : Identification of the von Hippel - Lindau diaease tumor suppressor gene . Sci-
ence 260 : 1317-1320, 1993. 8) Tse JY et al : Molecular genetic analysis of
the von Hippel - Lindau disease tumor sup-
pressor gene in familial and sporadic cere- bellar hemangioblastomas. Am J Clin Pathol
107 : 459-466, 1997. 9) Lemeta S et al : Recurrent DNA sequence
copy losses on chromosomal arm 6q in capil- lary hemangioblastoma. Cancer Genet Cyto- genet 133 : 174-178, 2002.
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591-596, 1996.
H-B SHI et al = Headache, vomiting, and nystagmus S 85
頭痛、嘔吐、眼振を伴 った小脳血管芽腫の1例
時 海 波(1)・ 中 山 明 峰(2)・程 雷 ・殷 敏(1)・今 田 隆 一(3)
三 邉 武 幸(4)・ 山 本 智 矢 ・小 宮 山 荘 太 郎(5)・三 好 彰(6),(7)
(1) Department of Otorhinolary.gology)The First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China
(2) Department of Otorhi.olaryngology Aichi Medical University, Aichi 480-1113, Japan(3) Department Qf Neurosurgery, Miyagi Health Association Izumi Hospital, Sendai 98113212, Japa.
(4) Department of Otorhinolaryngology, Tokyo Metropolitan Ebara General Hospital, Tokyo 145-0065, Japan
(5) Department of Otorhinolaryngology, Kyushu University Hospital, Fukuoka 812-8582, Japan(6) lnternatiQnal Research Centre for Nasal Allergy Nanjing Medical University, Nanjnng 210029, China
& Sendai 981-3133, Japa.(7) Miyoshi ENT CIinic, Sendai 981-3133, Japan
血管芽腫 は、 血管 の豊富 な組織学 的に低分化型 の腫瘍 であ り、時 にVon Hippel-Lindau病 の一部 と して出
現す る ことが ある。今 回われ われ は、36歳 女性の小脳血管芽腫 の症例を経験 した。本症例 は、 朝 ひど く、 日中
になる と軽減す るとい う特徴 を有 した後頭 部痛 、吐 き気、 嘔吐な らびにふ らつ きを訴 え、三好耳鼻咽喉科 ク リ
ニ ックを受診 した。 自発眼振検査 と頭位 眼振検査 にて水平性 眼振 が観察 された。 本症例 は、 脳外科 にて開頭手
術 を施行 され たが、 嚢胞内 の結節 は直径7mm程 で赤 みを帯 びてお り、嚢 胞は約10mlの 半透明な液体 によ って
満 たされていた。摘 出 された腫瘍 には、血 管芽 腫の典型的特徴が認 め られ た。術 後、MRIに て腫瘍 の完全 除去
が確認 できた。