Fowler syndrome
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ProliferativeFowler syndrome, also known as proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), also known as (Fowler syndromePVHH), is a rare condition inherited condition.
Terminology
Not to be confused with Fowler syndrome of urinary retention, a condition caused by primary failure of urethral sphincter relaxation resulting in urinary retention in young women.
Clinical presentation
It is characterised by:
- hydranencephaly
- brain stem and basal ganglia calcification
- glomeruloid (proliferative) vasculopathy of cerebral vessels
- fetal akinesia deformation sequence with muscular hypoplasia
Pathology
Fowler syndrome is inherited in an autosomal recessive manner, caused by mutations in the cell-surface protein FLCVR2 4.
It is characterized by
hydranencephalybrain stem and basal ganglion calcificationglomeruloid (proliferative) vasculopathy of cerebral vessels-
fetal akinesia deformation sequencewith muscular hypoplasia
Not to be confused with a condition resulting in urinary retention in young women, also called Fowler syndrome.
-<p><strong>Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH),</strong> also known as <strong>Fowler syndrome</strong>, is a rare condition inherited in an autosomal recessive manner, caused by mutations in the cell-surface protein FLCVR2 <sup>4</sup>.</p><p>It is characterized by </p><ul>- +<p><strong>Fowler syndrome</strong>, also known as <strong>proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome</strong> (<strong>PVHH</strong>), is a rare condition inherited condition.</p><h4>Terminology</h4><p>Not to be confused with Fowler syndrome of urinary retention, a condition caused by primary failure of urethral sphincter relaxation resulting in urinary retention in young women.</p><h4>Clinical presentation</h4><p>It is characterised by:</p><ul>
-<li>brain stem and basal ganglion calcification</li>- +<li>brain stem and <a title="Basal ganglia calcification" href="/articles/basal-ganglia-calcification">basal ganglia calcification</a>
- +</li>
-<a href="/articles/fetal-akinesia-sequence">fetal akinesia deformation sequence</a> with muscular hypoplasia </li>-</ul><p>Not to be confused with a condition resulting in urinary retention in young women, also called Fowler syndrome.</p>- +<a href="/articles/fetal-akinesia-sequence">fetal akinesia deformation sequence</a> with muscular hypoplasia</li>
- +</ul><h4>Pathology</h4><p>Fowler syndrome is inherited in an autosomal recessive manner, caused by mutations in the cell-surface protein FLCVR2 <sup>4</sup></p>
Sections changed:
- Syndromes
Systems changed:
- Paediatrics
- Central Nervous System
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