Dimitri–Sturge–Weber syndrome: Difference between revisions

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Latest revision as of 16:11, 15 December 2024

Dimitri–Sturge–Weber syndrome (DSWS), also known as Sturge-Weber syndrome or encephalotrigeminal angiomatosis, is a rare congenital neurological disorder and skin disorder. It is characterized by a port-wine stain birthmark on the face, neurological abnormalities, and vascular eye abnormalities. DSWS is associated with a somatic mutation in the GNAQ gene, which occurs sporadically and is not inherited. The syndrome affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes.

Symptoms and Signs[edit]

The most visible sign of Dimitri–Sturge–Weber syndrome is a facial port-wine stain, typically affecting one side of the face. The extent and location of the stain can vary. Additional symptoms include:

Neurological symptoms:
Seizures, often beginning in infancy, with varying severity.
Intellectual disability and developmental delays.
Hemiparesis (weakness on one side of the body).
Eye abnormalities:
Glaucoma, potentially leading to vision loss if untreated.

Causes[edit]

DSWS is caused by a somatic mutation in the GNAQ gene, which is not inherited but occurs randomly in a cell during early development. The GNAQ gene regulates blood vessel formation, and its mutation leads to the abnormal development of blood vessels in the brain, skin, and eyes associated with the syndrome.

Diagnosis[edit]

Diagnosis is based on clinical presentation, including:

A distinctive port-wine stain.
Neurological symptoms, such as seizures.
Imaging studies:
Magnetic resonance imaging (MRI) to detect characteristic brain abnormalities.
Genetic testing may be performed to confirm the presence of the GNAQ mutation.

Treatment[edit]

There is no cure for Dimitri–Sturge–Weber syndrome. Treatment focuses on managing symptoms and preventing complications, including:

Anticonvulsant medications: To control seizures.
Laser therapy: To reduce the appearance of the port-wine stain.
Regular eye examinations: To detect and treat glaucoma early.
Supportive therapies:
Physical therapy and occupational therapy to address developmental delays.
Educational support for intellectual disabilities.

Prognosis[edit]

The prognosis for individuals with DSWS varies widely depending on the severity of symptoms. Early and proactive management of seizures and glaucoma can significantly improve quality of life and outcomes.

See Also[edit]

Neurological disorders

General	* Neurodegeneration Neurodevelopmental disorders Neuroinflammatory disorders Neuromuscular disorders Neurovascular diseases
Diseases	* Alzheimer's disease Amyotrophic lateral sclerosis Autism spectrum disorder Cerebral palsy Epilepsy Migraine Multiple sclerosis Parkinson's disease Schizophrenia Stroke Traumatic brain injury
Symptoms and signs	* Aphasia Ataxia Confusion Headache Memory loss Neuropathic pain Seizure Tremor Vertigo
Diagnosis and treatment	* Brain imaging Cerebrospinal fluid analysis Electroencephalography Lumbar puncture Neurological examination Neurosurgery Physical therapy Speech therapy
Related	* Neurology Neuroscience Psychiatry Neurological examination Neuroscientist Neurosurgeon

This neurological disorder-related article is a stub. You can help WikiMD by expanding it.

Genetic disorders relating to deficiencies of transcription factor or coregulators

(1) Basic domains

1.2	* Feingold syndrome Saethre–Chotzen syndrome
1.3	* Tietz syndrome

(2) Zinc finger
DNA-binding domains

2.1	* (Intracellular receptor): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis
2.2	* Barakat syndrome Tricho–rhino–phalangeal syndrome
2.3	* Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2
2.5	* Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains

3.1	* ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome
3.2	* PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3
3.3	* FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX
3.5	* IRF6 Van der Woude syndrome Popliteal pterygium syndrome

(4) β-Scaffold factors
with minor groove contacts

4.2	* Hyperimmunoglobulin E syndrome
4.3	* Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome
4.7	* Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome
4.11	* Cleidocranial dysostosis

(0) Other transcription factors

0.6	* Kabuki syndrome

Dermatology and Skin conditions

General	* Acne Eczema Psoriasis Rosacea Seborrheic dermatitis Melanoma Basal cell carcinoma Squamous cell carcinoma
Infections	* Athlete's foot Cellulitis Herpes simplex Impetigo Scabies Ringworm
Autoimmune	* Lupus erythematosus Vitiligo Scleroderma Alopecia areata
Genetic	* Epidermolysis bullosa Ichthyosis Neurofibromatosis Psoriasis
Procedures	* Skin biopsy Mohs surgery Laser therapy for the skin Photodynamic therapy Cryotherapy

This dermatology-related article is a stub. You can help WikiMD by expanding it.

NIH genetic and rare disease info[edit]

NIH info on Dimitri–Sturge–Weber syndrome

Dimitri–Sturge–Weber syndrome is a rare disease.

Rare and genetic diseases

Rare diseases - Dimitri–Sturge–Weber syndrome

A-Z list of rare diseases	* 0-9 \| A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z
Also see	* Comprehensive list of genetic and rare diseases
Resources	* NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine

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-'''Dimitri–Sturge–Weber syndrome''' (DSWS), also known as '''Sturge-Weber syndrome''' or '''encephalotrigeminal angiomatosis''', is a rare congenital neurological and skin disorder. It is characterized by a port-wine stain birthmark on the face, neurological abnormalities, and vascular eye abnormalities. DSWS is associated with a mutation in the GNAQ gene, which occurs sporadically and is not inherited. The syndrome affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes.
+'''Dimitri–Sturge–Weber syndrome''' ('''DSWS'''), also known as '''Sturge-Weber syndrome''' or '''encephalotrigeminal angiomatosis''', is a rare [[congenital]] [[neurological disorder]] and [[skin disorder]]. It is characterized by a [[port-wine stain]] birthmark on the face, [[neurological abnormalities]], and vascular [[eye abnormalities]]. DSWS is associated with a [[somatic mutation]] in the ''[[GNAQ]]'' gene, which occurs sporadically and is not inherited. The syndrome affects the development of certain blood vessels, causing abnormalities in the [[brain]], [[skin]], and [[eyes]].
-==Symptoms and Signs==
+== Symptoms and Signs ==
-The most visible sign of Dimitri–Sturge–Weber syndrome is a facial port-wine stain, usually affecting one side of the face. However, the extent and location can vary. Neurological symptoms may include seizures, which often start in infancy and vary in severity. Intellectual disability, developmental delays, and weakness on one side of the body (hemiparesis) can also occur. Eye abnormalities, such as glaucoma, may develop, potentially leading to vision loss if not treated promptly.
+The most visible sign of '''Dimitri–Sturge–Weber syndrome''' is a [[facial port-wine stain]], typically affecting one side of the face. The extent and location of the stain can vary. Additional symptoms include:
-==Causes==
+* '''Neurological symptoms''':
-DSWS is caused by a somatic mutation in the GNAQ gene. This mutation is not inherited but occurs randomly in a cell during early development before birth. The GNAQ gene plays a role in regulating blood vessel formation, and its mutation leads to the abnormal development of blood vessels in the brain, skin, and eyes associated with the syndrome.
+* [[Seizures]], often beginning in infancy, with varying severity.
+* [[Intellectual disability]] and [[developmental delays]].
+* [[Hemiparesis]] (weakness on one side of the body).
+* '''Eye abnormalities''':
+* [[Glaucoma]], potentially leading to vision loss if untreated.
-==Diagnosis==
+== Causes ==
-Diagnosis of Dimitri–Sturge–Weber syndrome is primarily based on the clinical presentation, including the distinctive port-wine stain and neurological symptoms. Imaging studies, such as magnetic resonance imaging (MRI), can reveal characteristic brain abnormalities. In some cases, genetic testing may be conducted to identify the GNAQ mutation.
+DSWS is caused by a [[somatic mutation]] in the ''[[GNAQ]]'' gene, which is not inherited but occurs randomly in a cell during early development. The ''GNAQ'' gene regulates [[blood vessel formation]], and its mutation leads to the abnormal development of blood vessels in the brain, skin, and eyes associated with the syndrome.
-==Treatment==
+== Diagnosis ==
-There is no cure for DSWS, but treatment focuses on managing symptoms and preventing complications. Early intervention with anticonvulsant medications can help control seizures. Laser therapy may reduce the appearance of the port-wine stain. Eye examinations are crucial for detecting and treating glaucoma early. Physical therapy, occupational therapy, and educational support can help individuals with developmental delays or intellectual disabilities.
+Diagnosis is based on clinical presentation, including:
-==Prognosis==
+* A distinctive [[port-wine stain]].
-The prognosis for individuals with Dimitri–Sturge–Weber syndrome varies widely and depends on the severity of the symptoms. Early and aggressive management of seizures and glaucoma can significantly improve quality of life and outcomes.
+* Neurological symptoms, such as seizures.
+* [[Imaging studies]]:
+* [[Magnetic resonance imaging]] (MRI) to detect characteristic brain abnormalities.
+* Genetic testing may be performed to confirm the presence of the ''GNAQ'' mutation.
+== Treatment ==
+There is no cure for '''Dimitri–Sturge–Weber syndrome'''. Treatment focuses on managing symptoms and preventing complications, including:
+* '''Anticonvulsant medications''': To control seizures.
+* '''Laser therapy''': To reduce the appearance of the port-wine stain.
+* '''Regular eye examinations''': To detect and treat [[glaucoma]] early.
+* '''Supportive therapies''':
+* [[Physical therapy]] and [[occupational therapy]] to address developmental delays.
+* [[Educational support]] for intellectual disabilities.
+== Prognosis ==
+The prognosis for individuals with DSWS varies widely depending on the severity of symptoms. Early and proactive management of seizures and glaucoma can significantly improve quality of life and outcomes.
+== See Also ==
+* [[Neurological disorders]]
+* [[Congenital conditions]]
+* [[Port-wine stain]]
+* [[Genetic disorders]]
+* [[Rare diseases]]
+{{Neurological disorders}}
+{{Genetic disorders}}
+{{Skin conditions}}
+{{Rare diseases}}
+{{Disease-stub}}
 [[Category:Neurological disorders]]
 [[Category:Genetic disorders]]
 [[Category:Skin conditions]]
-{{disease-stub}}
+[[Category:Congenital disorders]]
+[[Category:Rare diseases]]
+[[Category:Pediatrics]]
+[[Category:Seizure disorders]]
+[[Category:Ophthalmology]]