Edit concept Question Editor Create issue ticket

Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

Braddock-Jones-Superneau syndrome


Presentation

  • Presents expanded coverage—by more than 20%—on the basics of interpreting diagnostic imaging studies of infants and children so you get an even more comprehensive guide that still maintains its concise format.[books.google.com]
  • ORPHA:1538 Synonym(s): Braddock-Jones-Superneau syndrome Prevalence: Inheritance: Autosomal dominant Age of onset: Infancy ICD-10: Q03.1 Q75.0 OMIM: 123155 UMLS: - MeSH: - GARD: 998 MedDRA: - The documents contained in this web site are presented for[orpha.net]
  • Either an ultrasound or an MRI of the newborn’s head will demonstrate if hydrocephalus is present.[fetalhealthfoundation.org]
  • An increase in the size of the fluid spaces surrounding the brain as well as an increase in pressure may also be present. The syndrome can appear dramatically or develop unnoticed.[en.wikipedia.org]
  • The skin is deeply furrowed with the cutis gyrata patterns most prominent in the posterior scalp but also present on the palms, soles, pinnae, and elsewhere. Acanthosis nigricans is often present.[disorders.eyes.arizona.edu]
Falling
  • The brunt of the damage falls mainly on the periventricular white matter which loses myelin and axons . Up to a certain point, the white matter changes are reversible, and often spectacular recovery is seen after shunting.[neuropathology-web.org]
Hypothermia
  • Ultrasound of the head : preferred imaging in neonates as it is free of complications such as radiation exposure and hypothermia during exposure. Identifies dilated ventricles and fused sutures easily.[lecturio.com]
Myopathy
  • Acquired pituitary hormone deficiency Addison disease Adie Syndrome Adiposis dolorosa ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder Adrenal incidentaloma Adult hepatocellular carcinoma Adult-onset distal myopathy[sanfordresearch.org]
  • […] cerebellar vermis Molar tooth sign on MRI Bowing of the long bones Postaxial polydactyly Atrial septal defect Ventricular septal defect Microcephaly Hepatic fibrosis Abnormality of coagulation Abnormality of the coagulation cascade Stroke Oxycephaly Myopathy[mendelian.co]
Hypertelorism
  • […] definition Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis (see this term), Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism[orpha.net]
  • […] definitionCraniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis (see this term), Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism[malacards.org]
  • […] definition Craniosynostosis , Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis (see this term), Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism[rarediseases.info.nih.gov]
Peripheral Neuropathy
  • neuropathy Acquired von Willebrand syndrome Acral peeling skin syndrome Acromegaly Acromesomelic dysplasia Actinic prurigo Activated PIK3-delta syndromea Acute adrenal insufficiency Acute biphenotypic leukemia Acute disseminated encephalomyelitis Acute[sanfordresearch.org]
Polyneuropathy
  • 5 Episodic ataxia type 6 Episodic Ataxia Unknown type Epstein syndrome Exposure to Medications Ataxia Excessive fragmentary hypnic myoclonus Erythromelalgia Fabry disease Facioscapulohumeral dystrophy Familial adenomatous polyposis Familial amyloid polyneuropathy[sanfordresearch.org]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • What is the treatment for hydrocephalus? The most common treatment for hydrocephalus is the surgical placement of a shunt in the area of the brain with excess fluid.[uclahealth.org]
  • Treatment option of shunting or fenestration: Shunting and/or fenestration represent treatment options. Patients followed for hydrocephalus: Treatment is low-risk, but prolonged follow-up is necessary.[ispn.guide]
  • Treatment Treatment Options: Monitoring for glaucoma and appropriate treatment are indicated. Hearing tests should be performed early. The usual treatments for keratoconus should be considered. Excess brain fluid may need surgical drainage..[disorders.eyes.arizona.edu]
  • Treatment can improve symptoms and help prevent further neurological deterioration.[cedars-sinai.edu]

Prognosis

  • Prognosis and intellectual outcome mostly depend on the presence of associated malformations, the degree of vermian malformation and the adequate control of hydrocephalus.[ncbi.nlm.nih.gov]
  • The prognosis of these patients depends mainly upon decompression of the cyst by cystectomy or cystoperitoneal shunt at an early stage. Shabnam Bhandari Grover, Ashutosh Pathak, N.C. Saxena Department of Radiology,[indianpediatrics.net]
  • (Outcomes/Resolutions) The prognosis for a child with Congenital Hydrocephalus is based on a combination of many factors.[dovemed.com]
  • Prognosis - Craniosynostosis- sagittal- with Dandy-Walker malformation and hydrocephalus Not supplied.[checkorphan.org]
  • […] of Craniosynostosis, DWv, and Arnold-Chiari Malformation Chiari malformations have a favorable prognosis with normal life expected after intervention, although some deformities have occurred after intervention.[lecturio.com]

Etiology

  • METHODS: An extensive literature review concerning embryologic, etiologic, pathogenetic, clinical and neuroradiological aspects has been performed. Therapeutic options, prognosis and intellectual outcome are also reviewed.[ncbi.nlm.nih.gov]
  • […] ventricle (dilated fourth ventricle) hydrocephalus bulging occiput cranial nerve palsies nystagmus truncal ataxia Radiology elevated imprint of the transverse sinuses thinning and bulging of posterior fossa bones posterior fossa cyst at the fourth ventricle Etiology[humpath.com]
  • Etiology of Craniosynostosis, DWv, and Arnold-Chiari Malformations Dandy-Walker variant Image : “Dandy-Walker-Variante mit Dysplasie von Pons und Cerebellum bei einem 8-jährigen.[lecturio.com]
  • The clinical profile, etiology, and genetics of the DWM are heterogeneous.[neuropathology-web.org]
  • Obstruction of CSF flow at the level of the foramina Luschka and Magendie results in hydrocephaly with dilation of the posterior fossa Etiologies Aqueductal Stenosis Images Source:Fetal Medicine Unit St George's Medical School Information Source:Medical[perinatology.com]

Epidemiology

  • Definitions and Epidemiology Head size is an easily measured clinical finding that can be followed over time. The head circumference is measured around the forehead and the occipital protuberance.[neurology.mhmedical.com]
  • Epidemiology of Craniosynostosis, DWv, and Arnold-Chiari Malformations The dandy walker variant is seen in 1 in 30000 people with a sporadic distribution.[lecturio.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology Characteristics of Dandy-Walker syndrome include: Enlarged fourth ventricle: Cystic fourth ventricular dilation is present.[ispn.guide]
  • Table of Contents Definition of Craniosynostosis, DWv, and Arnold-Chiari Malformations Epidemiology of Craniosynostosis, DWv, and Arnold-Chiari Malformations Etiology of Craniosynostosis, DWv, and Arnold-Chiari Malformations Pathophysiology of Craniosynostosis[lecturio.com]
  • PATHOPHYSIOLOGY: CSF production and absorption are in dynamic equilibrium, with average production equaling average absorption under normal physiologic conditions.[thamburaj.com]

Prevention

  • Early detection and treatment is vital to prevent adverse effects of this abnormality The prognosis is dependent on a variety of factors; however, one of the key factor that determines the outcome is the cause of Congenital Hydrocephalus Who gets Congenital[dovemed.com]
  • Prevention - Craniosynostosis- sagittal- with Dandy-Walker malformation and hydrocephalus Not supplied.[checkorphan.org]
  • Contraception (birth control), is the voluntary prevention of pregnancy. Many contraceptive methods ... [More] Chapter This chapter seeks to familiarize the reader with abnormal vaginal bleeding.[jaypeedigital.com]
  • Strict aseptic precautions, and avoidance of shunt surgery in the presence of CSF leak or intercurrent infection prevention. In most cases of shunt infection, the shunt may need to be removed. External ventricular drainage may be required.[thamburaj.com]
  • Treatment can improve symptoms and help prevent further neurological deterioration.[cedars-sinai.edu]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!