Добавил:
Sekretar
kiopkiopkiop18@yandex.ru
t.me/Prokururor I Вовсе не секретарь, но почту проверяю
Опубликованный материал нарушает ваши авторские права? Сообщите нам.
Вуз:
Предмет:
Файл:Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_3644_Библиотеки_им_академика_М_И_Перельмана
.pdf
clinical presentation of CAVMs in pediatric patients with HHT vs those
in adults were also noted. In children, in addition to congestive cardiac
failure and macrocrania, neurological deficits without hemorrhage were
a frequent presentation (Table 4.6).Almost 70% of the CAVMs in our pediatric HHT population were of the fistula type (CAVF) compared to 18%
in the adult HHT population (Table4.7). Krings et al. (2005b), reviewing
the neurovascular phenotypes of HHT per age group in 50 cases with 75
separate lesions,found a significant difference between the types in children and in adults.
Thirty-four cerebral AV fistulae were found in 20 patients. The mean
age was 3.0 years; all patients but two were less than 6 years old.
241Hereditary Hemorrhagic Telangiectasia
Ta ble 4.7. Angioarchitecture in HHT-related CAVM (Mahadevan et al. 2004b)
Adult Pediatric Total
Ve nous ectasia and giant pouch 2 (18.2%) 21 (91.3%) 23 (67.6%)
AV F2 (18.2%) 16 (69.6%) 18 (52.9%)
Multiplicity 5 (45.5%) 11 (47.8%) 16 (47.1%)
Nidus9 (81.8%) 7 (30.4%) 16 (47.1%)
Stenosis of pial venous supply 1 (9.1%) 7 (30.4%) 8 (23.5%)
Micro-AVM 3 (27.3%) 3 (13.0%) 6 (17.6%)
Distal arterial aneurysm 1 (9.1%) 5 (21.7%) 6 (17.6%)
Tr ansdural venous supply 0 (0%) 6 (26.1%) 6 (17.6%)
Reflux venous pial 0 (0%) 6 (27.3%) 6 (17.6%)
Stenosis of dural venous supply 1 (9.1%) 4 (17.4%) 5 (14.7%)
Dural venous thrombosis 0 (0%) 4 (17.4%) 4 (11.8%)
Angiogenesis 0 (0%) 3 (13.0%) 3 (8.8%)
Angiectasia 0 (0%) 3 (13.0%) 3 (8.8%)
To tal number of cases 11 (32.4%) 23 (67.6%) 34 (100%)
HHT, hereditary hemorrhagic telangiectasia; AVF, arteriovenous fistula; AVM,
arteriovenous malformation.
Scheme 4.1. HHT phenotype per age group (log of the age). (Krings et al. 2004)
Seven spinal cord AVMs that were all of the fistulous type were found
in seven patients harboring this disease were between 1 month and
6years ofage,with a mean age of 2.2 years.
Sixteen nidus-type AVMs were found in 16 patients whose age ranged
from 6 to 60 years (mean, 23.1)
Eighteen micro-AVMs (nidus size under 1 cm) were present in 11 patients
(Fig. 4.6).Patient age ranged from 6 to 59years (mean,31.8 years).
The disease displays an age-related expression, with manifestations developing throughout life and varying between affected individuals, even
individuals from the same family. While AVFs were present almost exclusively in the age group of young children under 6 years of age,AVMs were
present predominantly in the population of adolescents and young
adults,whereas micro-AVMs were present in adults (Scheme 4.1).
4Cerebral Arteriovenous Fistulas242
Fig. 4.8A–D. A 5-year-old girl
presented with sudden onset of
headaches showed on enhanced
CT (A) evidence of bilateral
occipital enhancing vascular
lesions.Over the next few days,
a partial visual field defect developed and repeat enhanced
CT scan (B) showed evidence
compatible with partial thrombosis of the vascular channel
on the right side. MRI T2 W
(C, D) showed increased signal
changes within the adjacent
brain parenchyma (arrow).
E–J see pp.243,244
243Hereditary Hemorrhagic Telangiectasia
Fig. 4.8E–H. (continued) Vertebral angiograms in AP view prior to (E) and 10 years
following transarterial embolization with glue of bilateral occipital lobe AVFs (F)
demonstrate long-term stability after embolization. The suspicion of HHT was confirmed. Right internal carotid angiograms in AP view at presentation (G) and10years
after embolization of bilateral B-AVFs (H) demonstrate a persistent cortical microAV M ( arrows), which had remained asymptomatic and could not be seen on MRI
examination (I, J).I,J see p.244
Moreover, 25% of single AVF and 50% of the multifocal AVFs in children occur in HHT family patients (Weon et al. 2005;Yoshida et al. 2004;
Krings et al. 2005a), indicating that AVF might be included in the known
diagnostic criteria of HHT.
While symptoms may be specifically related to one of the AVFs, complete angiography may disclose additional lesions, some of which may
not be visible on MRI examination (Fig. 4.8).
This raises questions on the indications and timing of noninvasive
screening of the CNS in young patients with a family history of HHT.It is
our opinion that such screening should be proposed before 2 years of age
and should be repeated after age 6years. Screening children who have
proven HHT but are not symptomatic in terms of the CNS is appropriate
at any time,but if negative no repeat screening appears to be necessary, as
under such circumstances no new CAVFs are expected to become apparent. Although it has not been our practice in managing HHT children
with proven CAVFs to screen the spinal cord with MRI, we would recommend it now, given that these multifocal localizations can coincide
(Fig. 4.9). In view of our satisfactory results with management of AVFs in
the pediatric population and their unfavorable natural history, we favor
the treatment of incidentally discovered AVFs in HHT patients. However,
this may not apply to micro-CAVMs in HHT children,as their natural history appears to be very benign (Matsubara et al. 2000; Mahadevan et al.
2004b) (Fig. 4.8), and we would manage those conservatively unless they
appear easy to reach by the endovascular approach.
4Cerebral Arteriovenous Fistulas244
Fig. 4.8I,J. Legend see p.243
245Hereditary Hemorrhagic Telangiectasia
Fig. 4.9A–G. Va rious aspects of HHT phenotypes in the pediatric population. A,B 1year-old boy with familial history of HHT presented with ruptured right cerebellar
hemisphere (three locations,arrows) associated with a lesion that quickly ruptured at
the upper cervical cord level.C, D A 6-year-old boy with ruptured mesencephalic mi-
cro- or small AVM. E–G see p.246
4.3.2 Encephalocraniocutaneous Lipomatosis
Batista et al.(2002) reported a child with encephalocraniocutaneous lipomatosis (ECCL) associated with posterior fossa AVFs. The child had two
high-flow fistulas, one supratentorial and one infratentorial, with additional nonvascular intracranial malformations (lipoma,arachnoids cysts,
and cortex dysplasia) (Fig. 4.10). Manifestations of this rare syndrome
are shown in Table 4.8.
4Cerebral Arteriovenous Fistulas246
Fig. 4.9. (continued) E–G A 12-year-old boy with intracerebral AVM reaching the
floor of the IVth ventricle
247Hereditary Hemorrhagic Telangiectasia
Fig. 4.10A–H. Axial T1 W image (A) shows right-sided paracavernous lipoma
(arrow) accompanying the trigeminal nerve.Coronal T2W images (B, C) show bilateral arachnoid cysts (black arrows) as well as a perimesencephalic venous pouch
(white arrow). Lateral angiogram of left internal cerebral artery (LICA) (D) shows a
pial AVF (arrow) supplied by middle temporal artery and draining into a Labbé vein
and transverse sinus posteriorly. Vertebral angiogram, lateral (E) and AP (F) views
and 3D angiogram (G) show a pial AVF (white arrow) supplied by a short circumferential artery from a basilar tip and draining into a ectatic tegmental vein that runs
supratentorially toward the transverse sinus; there is a pial venous reflux to the sagittal superior sinus and posterior fossa.The basilar tip AVF was treated first by placing
coils loosely in the venous pouch creating a basket and occluding the AVF with two
small coils as shown on the 3D angiogram (H). I–M. see p. 248
4Cerebral Arteriovenous Fistulas248
Fig. 4.10I–M. (continued) Superselective angiogram in lateral view (I) of he left tem-
poral branch prior to embolization shows cortical AVF, which was then treated by selective injection of pure glue at the fistula, as demonstrated by the cast of glue (J)
(arrow). Angiographic follow-up 2 months later of the LICA in lateral view (K) shows
complete occlusion of the temporal fistula and vertebral angiogram (L, M) in lateral
view shows persistent occlusion of basilar tip AVF
Ta ble 4.8. Encephalocraniocutaneous lipomatosis (from Batista et al. 2002)
Subcutaneous soft tumors of the cranium and face consistent with:
Lipomas
Alopecia and ocular lesions
Eyelid defects
Epibulbar dermoids
Ipsilateral brain malformations:
Arachnoids cysts
Brain atrophy
Changeable degree of enlargement of the ventricular system
Mental retardation appears variable intracranial (cisternal) lipoma is uncommon
4.4 Presentation
CAVFs in the pediatric population in our experience present slightly differently depending on their supra- or infratentorial location,presumably
related to their different venous drainage characteristics. The symptomatic supratentorial-located AVFs tend to present at an earlier age than
the symptomatic infratentorial locations (Tables 4.9, 4.10).While in utero
demonstration in our experience has occurred with both supra- and infratentorial locations, symptomatic AVFs at neonatal and infant age are
more likely to be supratentorial (Fig. 4.11).
In the same series of 52 pediatric patients with CAVFs, there were 41
with supratentorial single-hole cerebral AVFs,with a total of 63 AVFs. The
male:female ratio was 28:13 and the mean age at presentation was
24 months.The most common presenting symptoms leading to diagnosis
were cardiac insufficiency (31.7%) (Figs. 4.12,4.13), epilepsy (24.4%),and
macrocrania (14.6%) (Figs. 4.14, 4.15) (Tables 4.11, 4.12). About half of
the seizures were associated with a hemorrhagic episode. Hemorrhagic
onset was found in seven cases. The location of the hemorrhage was intracerebral hemorrhage (ICH) in three cases, combined ICH and intraventricular hemorrhage (IVH) in three, and combined ICH, IVH, and
subarachnoid hemorrhage (SAH) in one case. Six patients developed
their neurological deficit as the result of intracranial hemorrhage. Nonhemorrhagic neurological symptoms or progressive neurological deficits
are infrequent presentations of CAVFs (Figs. 4.16, 4.17).
249Presentation
Ta ble 4.9. Age at diagnosis, referral and first treatment (Weon et al. 2005), Supratentorial AVFs
Age First symptom First consultation First embolization
0–30 days 21 (52.5%)
a
9 (21.9%) 4 (11.3%)
1month–2 years 9 (21.9%) 21 (52.5%) 18 (51.4%)
2years–15 years 11 (26.8%) 11 (26.8%) 12 (34.3%)
To tal 41 (100%) 41 (100%) 35 (100%)
b
a
Four cases of prenatal diagnosis are included.
b
Six cases were not treated.
Ta b l e 4 .10. Age at presentation and at diagnosis in 14 children (Yoshida et al. 2004),
Infratentorial AVFs
Age group Clinical presentation Diagnosis
Neonatal 1
a
(7%) 0
Infantile 7 (50%) 8 (57%)
Childhood 6 (43%) 6 (43%)
a
Symptoms related to cardiopulmonary malformations.
4Cerebral Arteriovenous Fistulas250
Fig. 4.11A–E. Prenatal diagnosis of intracranial AVS was
made on color flow Doppler ultrasound (A) at 37weeks
gestation. Left carotid angiography in lateral view (B, C)
demonstrated two frontal interhemispheric AVFs (arrows)
supplied by the anterior cerebral arterial system.Elective
embolizations of the AVFs were done with glue at 2
and 11 months of age, resulting in complete exclusion
of the lesions, as shown on the postembolization internal
carotid angiogram on lateral views (D, E ) with normal
development of the child for age
Соседние файлы в папке Библиотека им академика М.И. Перельмана