|
FOWLER SYNDROME (hydrocephaly-hydranencephaly) |
·
This
condition is also known as 'proliferative vasculopathy and hydranencephaly-hydrocephaly'
(PVHH) (1-5) and as 'encephalic proliferative vasculopathy (6-8).
·
Lethal
condition
·
Characterized
by a hydrocephaly-hydranencephaly with severe cortex atrophy associated with
progressive destruction of central nervous system tissue linked to an unusual
and characteristic proliferative vasculopathy (2,5). This vasculopathy is the
histological key sign of the diagnosis and can involve the entire central
nervous system including the spinal cord.
·
The
pathogenesis of this disease remains controversial:
o
Norman
and McGillivray suggested that disorders of neuronal migration could be
involved as seen in Walker-Warburg syndrome and Fukuyama congenital muscular
dystrophy (3).
o
Harding
et al. suggested that the abnormal proliferative vasculopathy in the
nervous tissue might play the main part in the pathogenesis observed as early
as in the first trimester (5). The absence of any other causal explanations
associated with the hydrocephaly as well as the presence of this unusual
proliferative vasculopathy in the entire central nervous system points, to a
vascular pathogenesis (7).
o
The
destructive phenomenon extended to the spinal cord and explains amyotrophy and
early fetal akinetic sequence. Indeed, fetal mobility is reflex until birth,
which explains persistent fetal movements with a cerebral abnormality like
anencephaly. However, the destructive process of the anterior horns of the
spinal cord stops this reflex arc and is responsible for fetal akinetic
sequence observed in prenatal presentation of spinal muscular atrophy (8) or in
Fowler syndrome.
·
The
typical clinical events can also appear at a very early stage, which is in
contrast to Fowler's view suggesting that the pathogenetic process is maximally
operative between 20 and 24 weeks.
·
The presence
of pterygia indicates that the pathological process commenced earlier than
12 weeks (7).
ULTRASOUND |
·
Recently
diagmose in the first trimester (6).
·
Hydrocephalus.
·
Multiple
pterygia of the limbs (3).
·
Akinesia
(5).
·
Arthrogryposis
(5,6).
·
Increased
nuchal translucency (6).
·
Polyhydramnios
in late second and third trimester (2,3).
REFERENCES |
1.
Fowler
M, Dow R, White TA, Greer CH. Congenital hydrocephalus-hydranencephaly in five
siblings with autopsy studies: a new disease. Dev Med Child Neurol 1972;
14: 173-188
2.
Harper
CL, Hockey A. Proliferative vasculopathy and an hydranencephalic-hydrocephalic
syndrome: a neuropathological study of two siblings. Dev Med Child Neurol
1983; 25: 232-244
3.
Norman
MG, McGillivray B. Fetal neuropathology of proliferative vasculopathy and
hydranencephaly-hydrocephaly with multiple limb pterygia. Ped Neurosc
1988; 14: 301-336
4.
Mbakop
A, Cox JN, Storman C, Delozier-Blancher CD. Lethal multiple pterygium syndrome:
report of a new case with hydranencephaly. Am J Med Genet 1986; 25: 575-579
5.
Harding
BN, Ramani P, Thurley P. The familial proliferative vasculopathy and
hydranencephaly-hydrocephaly: immunocytochemical and ultrastructural evidence
for endothelial proliferation. Neuropath Neurobiol 1995; 25: 21-26
6.
Laurichesse-Delmas
H, Beaufrere AM, Martin A et.al. First-trimester features of Fowler syndrome.
Ultrasound Obstet Gynecol 2002;20:612-615.
7.
Moeschler
JB, Martin-Padilla M. Autosomal recessive encephaloclastic proliferative vasculopathy
(hydrocephaly/hydranencephaly) (Abstr). Am J Hum Genet 1989; 45
(Suppl.): A55
8.
Burlet
P, Huber C, Bertrandy S, Ludosky MA, Zwaenepoel I, Clermont O, Roume J,
Delezoide AL, Cartaud J, Munnich A, Lefebvre S. The distribution of SMN protein
complex in human fetal tissues and its alteration in spinal muscular atrophy. Hum
Mol Genet 1998; 7: 1927-1933
9.
Cobben
JM, Scheffer H, De Visser M, Van der Steege G, Verhey JB, Osinga J, Burton M,
Mensink RG, Grootscholten PM, Ten Kate LP, Buys CH. Prenatal prediction of
spinal muscular atrophy. Experience with linkage studies and consequences of
present SMN deletion analysis. Eur J Hum Genet 1996; 4: 231-236