Symptoma

Fowler Syndrome

Hydrocephaly or Hydranencephaly due to Cerebral Vasculopathy

We present the second case of Fowler syndrome presenting as a Dandy-Walker malformation, in a consanguineous family. [ncbi.nlm.nih.gov]

The sensation of urinary urgency which would normally be present with a full bladder is absent although when the bladder if full to capacity, pain and discomfort may be experienced. [cobfoundation.org]

  • Vascular Disease

    A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase / P. Frosst, H. J. Blom, R. Milos [et al.] // Nature Genetics. – 1995. – Vol. 10. – R. 111 – 113. Fowler B. [womab.com.ua]

  • Skin Edema

    A primiparous woman with a negative ultrasound at 11 weeks of pregnancy was noted at 15 weeks to have fetal nuchal thickening, generalized skin edema, prominent lateral ventricles, akinesia with arthrogryposis, and pterygia. [ncbi.nlm.nih.gov]

  • Hypertelorism

    At 18 weeks, a cystic hygroma with facial edema, hypertelorism, and hydrocephaly were noted; the limb deformity was still evident. Within 1 week, the cystic hygroma regressed partially, but the hydrocephaly deteriorated. [ncbi.nlm.nih.gov]

  • Facial Edema

    At 18 weeks, a cystic hygroma with facial edema, hypertelorism, and hydrocephaly were noted; the limb deformity was still evident. Within 1 week, the cystic hygroma regressed partially, but the hydrocephaly deteriorated. [ncbi.nlm.nih.gov]

  • Akinesia

    Fowler syndrome is characterized by hydranencephaly, brain stem and basal ganglion calcifications, a glomeruloid vasculopathy of the brain vessels, and a fetal akinesia deformation sequence with muscular hypoplasia. [ncbi.nlm.nih.gov]

  • Posture Abnormal

    Postural abnormalities were seen in 10 fetuses and structural brain abnormalities were suspected in 3. At autopsy the cerebral cortex appeared as a translucent membranous structure (hydranencephaly) in most fetuses. [ncbi.nlm.nih.gov]

  • Posterior Fossa Cysts

    Glomeruloid vascular proliferation (cerebral cortex, cerebellum, brain stem, spinal cord). 46XY Family 3 5 20 wks Ventriculomegaly and a posterior fossa cyst, cerebellum not seen Dandy-Walker malformation (1.5cm posterior fossa cyst, small cerebellum) [ncbi.nlm.nih.gov]

  • Gliosis

    An alternative hypothesis is that the CNS proliferative vasculopathy is the primary event and produces focal ischemic necrosis of adjacent white and gray matter, with neuronal loss, calcification, and gliosis. [ncbi.nlm.nih.gov]

Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. [rarediseases.info.nih.gov]

Sacral neuromodulation is an expensive and difficult treatment which involves stimulation of the sacral nerve. This is the only mode of treatment that has been found effective in restoring the voiding function, but has several disadvantages. [news-medical.net]

Botulinum toxin in the treatment of chronic urinary retention in women. Br J Urol 1992; 70:387–389. PubMed Google Scholar 19. Schmidt R, Jonas U, Oleson K, et al. Sacral nerve stimulation for treatment of refractory urinary urge incontinence. [link.springer.com]

Prognosis Unlike to the unilateral form, the prognosis of HE is usually quite poor. Affected patients mostly die in utero. In the survivors, death usually occurs in the first year of life. [ijponline.biomedcentral.com]

Long-term prognosis of individuals with right precordial ST-segment-elevation Brugada syndrome. Circulation 2005;111:257-63. 29. Giustetto C, Drago S, Demarchi PG, Dalmasso P, Bianchi F, Masi AS, et al. [ijcva.com]

Prognosis This is highly variable depending on the underlying cause. In BPH, the general trend is for symptoms to worsen over time. However, this is not true in all patients. [patient.info]

If the detrusor could contract and sphincter could relax during the voiding phase, the prognosis is good (Figure 19 ), and vice versa. [wjgnet.com]

And even they had classic BOO or with ISO or low compliance (pattern C, D, and E), their prognosis was better than those with detrusor nonintact ones. [malelutsbpe.com]

Fetal ventriculomegaly is a common referral for prenatal MRI, with possible etiologies being hydrocephalus and hydranencephaly. [ncbi.nlm.nih.gov]

The text reviews the definition, etiology and pathophysiology of non-relaxing pelvic floor muscle tone as well as discusses sexual function and past sexual experience in relation to the pelvic floor. [books.google.com]

It is important to exclude occult or undiagnosed neurological problems as an etiological cause. Our case was a 35 years old woman and there was no abnormal finding on her neurologic evaluation. [omicsonline.org]

Etiology and management of urinary retention in women. [indianjurol.com]

The epidemiology of female UR is not well documented. [indianjurol.com]

Edwards and Chun Li, Optimized Selection of Unrelated Subjects for Whole‐Genome Sequencing Studies of Rare High‐Penetrance Alleles, Genetic Epidemiology, 36, 5, (472-479), (2012). Frederick E. Dewey, Stephen Pan, Matthew T. Wheeler, Stephen R. [doi.org]

Epidemiology This is largely a condition that affects men, as its most common cause is BPH; however, there is an appreciable background incidence in women. [patient.info]

A review of current terminology, definitions, epidemiology, aetiology, and diagnosis. Eur Urol, 65 : 389, 2014. Miyazato, M., Yoshimura, N., and Chancellor, M. B.: The other bladder syndrome: underactive bladder. Rev Urol, 15 : 11, 2013. [auanet.org]

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The text reviews the definition, etiology and pathophysiology of non-relaxing pelvic floor muscle tone as well as discusses sexual function and past sexual experience in relation to the pelvic floor. [books.google.com]

Most recently helped to establish detrusor injection of Botox to treat severe detrusor overactivity as a clinic procedure Described eponymous syndrome of urinary retention in young women, researched pathophysiological mechanisms of condition and established [uclh.nhs.uk]

Described eponymous syndrome of urinary retention in young women, researched pathophysiological mechanisms of condition and established treatment programme of sacral neuromodulation. [theurologyfoundation.org]

Other postulated pathophysiology suggests that the cause of the chronic conjunctivitis is poor apposition of the lax upper eyelid to the globe with inadequate spreading of the tear film. [eyewiki.aao.org]

“Treatment of erectile dysfunction secondary to neurological disease using the medicated urethral system for erection” M A Cerruto, M J Swinn, C J Fowler and C Famulari The 13th National Congress of The Italian Society of Surgical Pathophysiology, Alghero [surreyurologist.co.uk]

This relieves the pain, helps to prevent urinary and kidney infection, and keeps the bladder wall in normal condition. In a few cases the woman recovers, but in many cases Fowler's syndrome remains a lifelong burden. [news-medical.net]

It is this abnormalactivity which is thought to prevent relaxationof the sphincter and cause urinary retentionor voiding dysfunction (Fowler, Kirby et al.1985). 35. • Certainly an absence of sensation with grossbladder filling is characteristic of this [slideshare.net]

Obstruction : A clog or blockage that prevents liquid from flowing easily. Rectum : The last part of the large intestine (colon) ending in the anus, often termed ‘back passage’. [ucl.ac.uk]