Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_3644_Библиотеки_им_академика_М_И_Перельмана

Ta ble 2.11. Bicêtre Neonatal Evaluation Score

no medical isolated finishes bottle treatment EEG Abn’s

3Failure:stable Nonconvulsive Tachypnea, No hepatomegaly, Normal

with medical intermittent does not normal function treatment neurologic signs finish bottle

2Failure:not stable Isolated Assisted ventilation, Hepatomegaly, Transient anuria

0Resistant to Permanent Assisted ventilation, Abn coagulation, Anuria

medical treatment neurological signs desaturation elevated enzymes

Abn, abnormal; FIO

Ta b l e 2 .12. Bicêtre Admission and Outcome Scores

(BAS and BOS)

of up to 20%; nonpermanent neurological symptoms (MNS) with treatment; normal school with support and/or cardiac failure stabilized with treatment

1Severe neurological symptoms (SNS), mental retardation

of more than 20%; specialized school and/ or cardiac failure unstable despite treatment

0 Death (D)

Does not apply to neonates.

Scheme 2.15. B,C

2.7 Revised Concept of the Congenital Nature of Vascular Malformations

Several diseases are known to be hereditary. Some have been related to a chromosome disorder, and others have been localized to a single gene (Table 2.1). In clinical practice,the quest for familial disease is imperative and yet seldom fruitful. Although little use can be made of such findings today, future gene therapy and genetic counseling will transform the prognosis of many of these diseases. Some genealogical trees are difficult to establish, and patient interviews may be misleading if precise inquiries are not undertaken in order to establish the reality of a hereditary dis­ease. The possibility of including information pertaining to relatives or even requiring their presence for possible interview purposes should be strongly considered.We had such an opportunity with a family in which three male members of the same generation presented with neonatal or infantile hemiplegia (Scheme 2.16). The decoding process of the events described by the family members was particularly fruitful,and the excep­tional character of the initial findings was not as unique as we initially thought. The following diseases were recently identified or are entering direct research programs (obviously many more are being considered for genetic research, but the following are often discussed in our daily practice).

This belongs to the collagen diseases. Diagnosis is established on cul­tured fibroblasts that synthesize abnormal type III collagen. A mutation in the gene for the type III procollagen (COL 3A1) is the cause of the disease, which is transmitted as an autosomal dominant trait on chromo­some 2. It is associated with arterial ruptures and aneurysms (see Chap. 17, this volume).

This disease (Tournier Lasserve 1993; chromosome 19q12) leads to dementia, but starts in early or mid-adulthood. There is no arterial hy­pertension,no atherosclerosis,and no amyloid angiopathy (see Chap. 18, this volume).

If a single genotype is considered, several mutations involving en­doglin can be seen, one per family. Certain manifestations (head and neck vs digestive tract) are frequently seen within one family.Yet in the head and neck group of families,certain characteristics are not transmit­ted, in particular CAVM or CAVF.It seems,however, that AVFs are typical if not specific of AVSs in young children (Fig. 2.31). The AVSs in adults tend to be expressed through nidus arranged lesions (AVMs).Since there are several foci in both types, why would this occur?

Fig. 2.31A–E. A 1-year-old boy with familial history of ROW disease was first admit­ted with disturbances of consciousness and intraventricular hemorrhage on CT (A). Angiography (B–D) revealed three AVMs, two in the right cerebellar lobe and one SCAVM at C2 and C3. The main cerebellar arteriovenous shunt (AVS), supplied by the right AICA, appeared with an ectatic venous drainage of the posterior fossa and ve­nous pseudoaneurysm. The cord lesion seemed more nidus arranged. In HHT, the cerebral AV shunts (with the same apparent genotype) diagnosed in children vs those in adults are very different. They are likely to represent two morphological expres­sions of the same venous malformation triggered at different maturation stages or phases of the endothelial cell (re)generation cycle.For comparison (C,E), see experi­mental lesion in mice end

Fig. 2.31A–E. Legend see p. 88

 Is there a different genotype? It is unlikely that the two genotypes

presently known and the AVF trait are linked to one group of other

phenotypic expressions.  Is there a different mutation? If one mutation is specific for a given

comparison with others with the same genotype.  Do all cells share the same defect because its expression is related to

environmental conditions? These will either compensate or on the

contrary betray the quiescent damage or dysfunction. The fact that the

endoglin deficiency varies with age,or an unknown associated failure

of a compensatory system does not allow the vascular tree to pass this