Sturge-Weber syndrome is a neurocutaneous disorder characterized by port-wine stain birthmarks on the face and leptomeningeal angiomas in the brain. It is caused by a somatic mutation in the GNAQ gene and results in failed regression of embryonic blood vessels. Clinical manifestations include seizures, glaucoma, intellectual disability, and stroke-like episodes. Diagnosis involves MRI, CT, lumbar puncture and EEG. Management is multidisciplinary and focuses on seizure control, glaucoma treatment, and monitoring for neurological deterioration. Prognosis depends on factors like early seizure onset and extent of brain involvement.
TUBEROUS SCLEROSIS
Cutaneous Features
Neurological Features
Retinal Features
Systemic Features
NEUROFIBROMATOSIS
Cutaneous Features of Neurofibromatosis Type 1
Systemic Features of Neurofibromatosis Type 1
Neurological Features in Neurofibromatosis Type 1
Clinical Features of Neurofibromatosis Type 2
STURGE-WEBER SYNDROME
Cutaneous Features
Ocular Features
Neurological Features
Diagnostic Studies
Treatment
VON HIPPEL-LINDAU SYNDROME
Neurological Features
Ocular Features
Systemic Features
Molecular Genetics
Treatment
HEREDITARY HEMORRHAGIC TELANGIECTASIA
Neurological Features
Treatment
HYPOMELANOSIS OF ITO
Cutaneous Features
Neurological Features
Systemic Features
INCONTINENTIA PIGMENTI
Cutaneous Features
Neurological Features
Genetics
ATAXIA-TELANGIECTASIA
Cutaneous Features
Neurological Features
Immunodeficiency and Cancer Risk
Laboratory Diagnosis
EPIDERMAL NEVUS SYNDROME
Cutaneous Features
Neurological Features
Other Features
Neuroimaging
NEUROCUTANEOUS MELANOSIS
Cutaneous Features
Neurological Features
Laboratory Findings
Neuroimaging
EHLERS-DANLOS SYNDROME
Neurovascular Features
CEREBROTENDINOUS XANTHOMATOSIS
Neurological Features
Xanthomas
Other Clinical Features
Treatment
PROGRESSIVE FACIAL HEMIATROPHY
Clinical Features
KINKY HAIR SYNDROME (MENKES DISEASE)
Cutaneous Features
Other Clinical Features
Neurological Features
Neuroimaging
Genetic Studies
Diagnosis and Treatment
XERODERMA PIGMENTOSUM
Complementation Groups
Related Syndromes
Cutaneous and Ocular Features
Treatment
OTHER NEUROLOGICAL CONDITIONS WITH CUTANEOUS
MANIFESTATIONS
TUBEROUS SCLEROSIS
Cutaneous Features
Neurological Features
Retinal Features
Systemic Features
NEUROFIBROMATOSIS
Cutaneous Features of Neurofibromatosis Type 1
Systemic Features of Neurofibromatosis Type 1
Neurological Features in Neurofibromatosis Type 1
Clinical Features of Neurofibromatosis Type 2
STURGE-WEBER SYNDROME
Cutaneous Features
Ocular Features
Neurological Features
Diagnostic Studies
Treatment
VON HIPPEL-LINDAU SYNDROME
Neurological Features
Ocular Features
Systemic Features
Molecular Genetics
Treatment
HEREDITARY HEMORRHAGIC TELANGIECTASIA
Neurological Features
Treatment
HYPOMELANOSIS OF ITO
Cutaneous Features
Neurological Features
Systemic Features
INCONTINENTIA PIGMENTI
Cutaneous Features
Neurological Features
Genetics
ATAXIA-TELANGIECTASIA
Cutaneous Features
Neurological Features
Immunodeficiency and Cancer Risk
Laboratory Diagnosis
EPIDERMAL NEVUS SYNDROME
Cutaneous Features
Neurological Features
Other Features
Neuroimaging
NEUROCUTANEOUS MELANOSIS
Cutaneous Features
Neurological Features
Laboratory Findings
Neuroimaging
EHLERS-DANLOS SYNDROME
Neurovascular Features
CEREBROTENDINOUS XANTHOMATOSIS
Neurological Features
Xanthomas
Other Clinical Features
Treatment
PROGRESSIVE FACIAL HEMIATROPHY
Clinical Features
KINKY HAIR SYNDROME (MENKES DISEASE)
Cutaneous Features
Other Clinical Features
Neurological Features
Neuroimaging
Genetic Studies
Diagnosis and Treatment
XERODERMA PIGMENTOSUM
Complementation Groups
Related Syndromes
Cutaneous and Ocular Features
Treatment
OTHER NEUROLOGICAL CONDITIONS WITH CUTANEOUS
MANIFESTATIONS
Antihyperglycemic agents. The term "biguanidine" often refers specifically to a class of drugs that function as oral antihyperglycemic drugs used for diabetes mellitus or prediabetes treatment. Examples include: Metformin - widely used in treatment of diabetes mellitus type 2.
Overview of glaucoma from an engineering perspective for ophthalmologic technology used for diagnosis, disease management and eventually for personalized medicine.
External download link: https://www.dropbox.com/s/i7qmd5ecj8c247x/glaucoma_overview.pdf?dl=0
Phakomatosis: Brief overview about Radiological PerspectivesWaseem M.Nizamani
Radiological Presentation/tutorial with introduction to Phakomatoses and most common subtypes and their imaging features. Area of interest Radiology and Neurology residents
Basavarajeeyam is an important text for ayurvedic physician belonging to andhra pradehs. It is a popular compendium in various parts of our country as well as in andhra pradesh. The content of the text was presented in sanskrit and telugu language (Bilingual). One of the most famous book in ayurvedic pharmaceutics and therapeutics. This book contains 25 chapters called as prakaranas. Many rasaoushadis were explained, pioneer of dhatu druti, nadi pareeksha, mutra pareeksha etc. Belongs to the period of 15-16 century. New diseases like upadamsha, phiranga rogas are explained.
Antihyperglycemic agents. The term "biguanidine" often refers specifically to a class of drugs that function as oral antihyperglycemic drugs used for diabetes mellitus or prediabetes treatment. Examples include: Metformin - widely used in treatment of diabetes mellitus type 2.
Overview of glaucoma from an engineering perspective for ophthalmologic technology used for diagnosis, disease management and eventually for personalized medicine.
External download link: https://www.dropbox.com/s/i7qmd5ecj8c247x/glaucoma_overview.pdf?dl=0
Phakomatosis: Brief overview about Radiological PerspectivesWaseem M.Nizamani
Radiological Presentation/tutorial with introduction to Phakomatoses and most common subtypes and their imaging features. Area of interest Radiology and Neurology residents
Basavarajeeyam is an important text for ayurvedic physician belonging to andhra pradehs. It is a popular compendium in various parts of our country as well as in andhra pradesh. The content of the text was presented in sanskrit and telugu language (Bilingual). One of the most famous book in ayurvedic pharmaceutics and therapeutics. This book contains 25 chapters called as prakaranas. Many rasaoushadis were explained, pioneer of dhatu druti, nadi pareeksha, mutra pareeksha etc. Belongs to the period of 15-16 century. New diseases like upadamsha, phiranga rogas are explained.
Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
New Drug Discovery and Development .....NEHA GUPTA
The "New Drug Discovery and Development" process involves the identification, design, testing, and manufacturing of novel pharmaceutical compounds with the aim of introducing new and improved treatments for various medical conditions. This comprehensive endeavor encompasses various stages, including target identification, preclinical studies, clinical trials, regulatory approval, and post-market surveillance. It involves multidisciplinary collaboration among scientists, researchers, clinicians, regulatory experts, and pharmaceutical companies to bring innovative therapies to market and address unmet medical needs.
Explore natural remedies for syphilis treatment in Singapore. Discover alternative therapies, herbal remedies, and lifestyle changes that may complement conventional treatments. Learn about holistic approaches to managing syphilis symptoms and supporting overall health.
Title: Sense of Taste
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
3. Brief Introduction
Sturge-Weber syndrome (SWS), also called
Encephalotrigeminal angiomatosis, is a neurocutaneous
disorder characterised by capillary malformations in the
-Face (Port-wine birthmark; typically V1&V2
distributions of the trigeminal nerve
-Brain (Leptomeningeal Angiomas)
-Eyes (Glaucoma)
10/29/2023 3
4. Brief Introduction
It was named in Honour of British Physicians,
-Dr. William A. Sturge and
-Dr. Frederick P. Weber
10/29/2023 4
5. Epidemiology
-The incidence of Sturge-Weber syndrome is estimated to
be 1 in 20,000-50,000 live births.
-Affects males = females
-No race predilection.
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6. Etiology
Sturge-Weber syndrome is a sporadic developmental
disorder caused by somatic mosaic mutations in the GNAQ
gene which is located on the long arm of chromosome 9.
A single nucleotide variant (c.548G→A,p.Arg183GIn)
Hence, not a heritable disorder.
10/29/2023 6
7. Etiology
This mutation causes alterations in regulation of the
structure and function of blood vessels, innervation of the
blood vessels, and expression of extracellular matrix and
vasoactive molecules
Low flow in the leptomeningeal capillary malformation
results in a chronic hypoxic state leading to Cortical Atrophy
and Calcifications
10/29/2023 7
8. Pathophysiology
-SWS is caused by residual embryonal blood vessels and
their secondary effects on surrounding brain tissue.
- A vascular plexus develops around the cephalic portion of
the neural tube, under ectoderm destined to become
facial skin.
- Normally, this vascular plexus forms in the 6th week and
regresses around the 9th week of gestation
10/29/2023 8
9. Pathophysiology
-Failure of this normal regression results in residual
vascular tissue, which forms the angiomata of the
leptomeninges, face, and ipsilateral eye
10/29/2023 9
10. Classification
The Roach Scale is used for classification:
Type I - Facial and leptomeningeal angiomas(LA);
patient may have glaucoma
Type II - Facial angioma alone (no CNS involvement);
patient may have glaucoma
Type III - Isolated LA; usually no glaucoma
10/29/2023 10
11. Clinical Manifestations (Facial)
Port-wine birthmark:
-Present at birth
-Most common type of vascular malformation,
-Overall Incidence 20-50%
-Mostly Unilateral (can be bilateral)
-Ipsilateral to brain involvement
-Also occurs in Trunk,Mouth Mucosa
and Pharynx
10/29/2023 11
12. Clinical Manifestations(Ocular)
Glaucoma:
-Predominant ocular abnormality
-Presents as buphthalmos in the newborn
-Occurs on the Ipsilateral eye
-Affects approximately one-half of patients
-Risk of glaucoma is highest in the first decade
-Need for ophthalmology life long
evaluation
10/29/2023 12
13. Clinical Manifestations(Ocular)
-Conjunctival and Episcleral hemangiomas
-Diffuse choroidal hemangiomas
-Heterochromia of the irides
-Tortuous retinal vessels with occasional arteriovenous
communications
-Optic nerve damage - Resulting in myopia,
strabismus, and visual field defects
(Homonymous Hemianopia)
10/29/2023 13
14. Clinical Manifestations(CNS)
Siezures:
-Seizures are often the first symptom of SWS.
-Occur mostly 1st yr of life; rarely during 1st month of
life.
-Occur in 70-80% of all SWS & >90% in those with
Bilateral brain involvement
-They may occur in the setting of an acute illness
- Associated with the acute onset of hemiparesis
10/29/2023 14
15. Clinical Manifestations(CNS)
Siezures:
-Initially, typically focal,(Contralateral side)→ generalized
tonic-clonic
-Less commonly associated; Infantile spasms, myoclonic,
atonic seizures
-Response to antiseizure medication is variable and
unpredictable
10/29/2023 15
16. Clinical Manifestations(CNS)
Leptomeningeal vascular malformation :
-Occurs in 10- 20% of cases when a typical facial
lesion is present.
-Malformation occurs on the same side as the port
wine stain.
- The parietal and occipital areas are affected most
commonly, although any portion of the cerebrum can be
involved.
- LVM in SWS are not static lesions but rather undergo
angiogenic remodeling
10/29/2023 16
18. Clinical Manifestations (CNS)
Hemiparesis and stroke-like events
- Hemiparesis often develops acutely in conjunction
with the onset of seizures.
-The deficit occurs contralateral to the intracranial
lesion
-The paretic extremity usually does not grow at a
normal rate, resulting in hemiatrophy.
-Some affected children have progressive loss of
motor function or have a series of stroke-like events.
10/29/2023 18
19. Clinical Manifestations(CNS)
Intellectual disability
- Children with SWS typically develop normally for
several months after birth,→ developmental delay.
-Present in at least 50%
-The course of cognitive change in children with SWS
is highly variable(↑ ↓ in IQ over time)
- Cognitive impairment can be obvious soon after birth,
especially in infants with extensive brain involvement.
10/29/2023 19
20. Clinical Manifestations(CNS)
Behavioral problems
- The risk for behavioural problems is associated with
poorer cognitive function and the presence of epilepsy
- Autism spectrum disorder and social communication
difficulties are also associated with SWS.
10/29/2023 20
21. Clinical Manifestations(CNS)
Neuroendocrine problems
- 18-fold ↑sed risk of growth hormone deficiency in
SWS compared with the general population
-Growth hormone deficiency occurs without
neuroimaging evidence of pituitary or hypothalamic
abnormalities.
Central hypothyroidism has also been reported in
SWS
10/29/2023 21
24. Principles of Management
-Multidisciplinary Approach and Symptomatic
-Seizure Control : AEDs & Hemispherectomy
-Prevention of Stroke-like episodes
-Prophylactic treatment for headache
-Monitoring and treating of glaucoma (Drug/Surgery)
- Laser Photocoagulation for PWS
-Endocrine evaluation & treatment
-
10/29/2023 24
25. Poor Prognostic Factors
-Early seizure onset
-Extensive leptomeningeal angioma (LA)
-Medically refractive seizures
-Relapsing or permanent motor deficits
-Headaches or mild trauma associated with transient motor
deficits
-Evidence of progressive neurologic damage
10/29/2023 25
26. Poor Prognostic Factors
-Focal seizures with subsequent generalization
-Increasing seizure frequency and duration
-Increasing duration of postictal deficits
-Increasing focal or diffuse atrophy
-Progressive atrophy or calcifications
-Development of hemiparesis
-Deterioration in cognitive functioning (loss of intellectual
abilities)
10/29/2023 26
27. Recent Updates on SWS
– GNA11 & GNB2 Somatic mutations have been implicated are
related to SWS
– Retrospective studies suggest use of low dose Aspirin & Vit D
in treatment of SWS
– Prospective drug trials have supported use of Cannabidiol &
Sirolimus in treatment of SWS
– Presymptomatic treatment with low dose Aspirin & AEDs
Show promising results in delaying seizure onset in some
patients
10/29/2023 27
Typically affecting but not limited to ophthalmic n maxillary dis Refered to as Triad of STUGE WEBER.
Who decribed it in detail stuge decribed –cutaneous, ocular n neuronal features in 1869 n weber documented radiological findings in 1929
Gnaq regulats, functions& develp of BV. Whole genome sequencing from affected n unaffected skin of patients with SWS identified . in the GNAQ gene similar results from large cohorts as well as non syndromic patients with PWBirtmarks demonstated similar changes
D timing of the Somatic mutation affects the clinical phenotype. If mutation occurring at earlier stage may affect a greater variety of precursor cells and lead to SWS. Whilst those occurring at later may affect only precursors of vascular endothelial cells and lead to nonsyndromic port wine stains
SWS is referred to as complete when both CNS and facial angiomas are present, and incomplete when only the face or CNS is affected.
4type
Caz glaucoma can occur at any time in life
Many patients have visual field defects, typically a homonymous hemianopia. This is due to the presence of a LCVM affecting one or both occipital lobes and optic tracts.
Some patients have long intervals without seizures, even without medication, while others have frequent or prolonged seizures despite high doses of multiple medications. (
New blood vessels sprout of
CT of Pt with SWS SHOWING Unilateral calcification and underlying atrophy of the cerebral hemisphere
The mechanism for this deterioration is uncertain. Suspected to be a cumulative effect of repeated thrombotic events within the LCVM or chronic disturbance of blood flow and oxygen delivery to the involved tissues.
lower IQ at follow-up in one longitudinal study included baseline abnormalities (EEG), high seizure frequency, and early frontal lobe involvement on brain MRI
GH secreting cells are particulary sensitive to vascular insults & thus may have increased risk of damage in SWS
The preferred neuroimaging technique for the diagnosis of SWS is brain MRI as demonstrates the LVM. There is a general consensus among experts that a negative brain MRI with gadolinium at one year of age can reliably exclude the presence of a leptomeningeal lesion
Non contrast CT (A&B) with SWS, epilepsy, and severe intellectual disability. shows extensive, bilateral gyriform calcifications in a curvilinear pattern often called the "tram track" sign. FLAIR MRI (C, D) shows extensive atrophy of left frontal and parietal lobes. E &F Postcontrast MRI in transverse axial and coronal planes (G) shows leptomeningeal enhancement consistent with leptomeningeal capillary venous malformations (LCVMs) in both cerebral hemispheres. In addition, choroid enlargement is also noted (D, F, G) and correlates with the extent of the LCVMs.
neuronal injury.Limited observational data suggest that low-dose aspirin may reduce the frequency and severity of seizures and stroke-like events
It has being demonstrated that earlier onset seizures correlated with more residual neurologic deficits and worse focal cerebral atrophy and that in most cases the course stabilized after age 5 years
Disease progression and neurological deterioration may occur in SWS. Although the actual LA is typically a static anatomic lesion
For all children diagnosed with SWS, use of low-dose aspirin (3 to 5 mg/kg per day) beginning in infancy. There is increasing agreement among experienced clinicians that low dose aspirin may be beneficial, with the rationale that antithrombotic therapy may prevent the progression of impaired cerebral blood flow and hypoxic-ischemic