What is the Difference Between Sturge Weber and Von Hippel-Lindau

Vascular malformation is an abnormal development of vessels. This can be found in large arteries, veins, smaller vessels such as arterioles and venules, capillaries, or lymphatic channels. Sturge Weber and Von Hippel-Lindau are two genetic disorders that cause vascular tumors or vascular malformations.

The key difference between Sturge Weber and Von Hippel-Lindau is their cause. Sturge Weber is caused by postzygotic somatic mutation, while Von Hippel-Lindau is caused by dominant inherited or de novo germline mutation.

CONTENTS

1. Overview and Key Difference
2. What is Sturge Weber Syndrome
3. What is Von Hippel-Lindau Syndrome
4. Similarities – Sturge Weber and Von Hippel-Lindau Syndrome
5. Sturge Weber vs Von Hippel-Lindau in Tabular Form
6. Summary – Sturge Weber vs Von Hippel-Lindau
7. FAQ – Sturge Weber and Von Hippel-Lindau Syndrome

What is Sturge Weber Syndrome?

Sturge Weber is a rare congenital vascular disorder that is characterized by facial capillary malformation and capillary venous malformations affecting the brain and eye. This condition affects only one in 20,000-50,000 newborns. The symptoms of this condition may include facial birthmarks, glaucoma, seizures, developmental delays, headaches or migraines, and hypothyroidism. Sturge-Weber syndrome is caused by a somatic mutation in the GNAQ gene.

Sturge Weber syndrome can be diagnosed through physical examination, MRI, CT scan, electroencephalogram (EEG), and comprehensive eye examinations. Furthermore, Sturge Weber syndrome can be treated with laser skin resurfacing, respective surgery, hemispherectomy, vagus nerve stimulation, physical therapy, regular eye examination, and special education in the case of developmental delays.

What is Von Hippel-Lindau Syndrome?

Von Hippel-Lindau is an inherited genetic disorder characterized by the formation of tumors and fluid-filled sacs in many different parts of the body. Tumors can be either noncancerous or cancerous, frequently appearing in young adulthood. Inherited or de novo mutations in the VHL gene cause von Hippel-Lindau syndrome. Moreover, the symptoms of this condition may include balance problems, impaired vision, muscle weakness, headache, backache, neck pain, blood in the urine, a lump or growth on the side or lower back, fever, weight loss, back pain, decreased appetite, fatigue, abdominal pain, high blood pressure, rapid pulse, heart palpitation, headache, nausea, clammy skin, tremor, anxiety, hearing loss, tinnitus, vertigo, and facial paralysis.

Von Hippel-Lindau syndrome can be diagnosed through family history, physical examination, and genetic testing. Furthermore, treatment options for Von Hippel-Lindau may include medications such as Belzutifan, surgeries, photocoagulation, cryotherapy, partial nephrectomy, or other techniques such as radiofrequency ablation.

Similarities Between Sturge Weber and Von Hippel-Lindau Syndrome

• Sturge Weber and Von Hippel-Lindau are two genetic disorders that cause vascular tumor or vascular malformations.
• Both are caused by genetic mutations.
• Both conditions can be diagnosed through physical examination.
• They can be treated through specific medications and surgeries.

Difference Between Sturge Weber and Von Hippel-Lindau

Definition

1. Sturge Weber is a rare congenital vascular disorder characterized by facial capillary malformation and capillary venous malformations affecting the brain and eye.
2. Von Hippel-Lindau is an inherited genetic disorder characterized by the formation of tumors and fluid-filled sacs in many different parts of the body.

Causes

1. Sturge Weber is caused by a somatic mutation in the GNAQ gene.
2. Von Hippel-Lindau is caused by inherited or de novo mutations in the VHL gene.

Symptoms

1. Symptoms of Sturge Weber include facial birthmarks, glaucoma, seizures, developmental delays, headaches or migraines, and hypothyroidism.
2. Symptoms of Von Hippel-Lindau include balance problems, impaired vision, muscle weakness, headache, backache, neck pain, blood in the urine, a lump or growth on the side or lower back, fever, weight loss, decreased appetite, fatigue, abdominal pain, high blood pressure, rapid pulse, heart palpitation, nausea, clammy skin, tremor, anxiety, hearing loss, tinnitus, vertigo, and facial paralysis.

Diagnosis

1. Sturge Weber is diagnosed through physical examination, MRI, CT scan, electroencephalogram (EEG), and comprehensive eye examination.
2. Von Hippel-Lindau is diagnosed through family history, physical examination, and genetic testing.

Treatment

1. Treatment for Sturge Weber may include laser skin resurfacing, respective surgery, hemispherectomy, vagus nerve stimulation, physical therapy, regular eye examination, and special education in the case of developmental delays.
2. Treatment for Von Hippel-Lindau may involve medications such as Belzutifan, surgeries, photocoagulation, cryotherapy, partial nephrectomy, or other techniques such as radiofrequency ablation.

The infographic below presents the differences between Sturge Weber and Von Hippel-Lindau in tabular form for side-by-side comparison.

Summary – Sturge Weber vs Von Hippel-Lindau

Sturge Weber and Von Hippel-Lindau are two genetic disorders that cause vascular tumors or vascular malformations. However, Sturge Weber is a disorder that is caused by postzygotic somatic mutation, while Von Hippel-Lindau is a disorder that is caused by dominant inherited or de novo germline mutation. This summarizes the difference between Sturge Weber and Von Hippel-Lindau.

FAQ: Sturge Weber and Von Hippel-Lindau Syndrome

1. What are the characteristics of Sturge-Weber?

• Sturge-Weber, or SWS, is often characterized by a port-wine birthmark on the child’s face. Other common symptoms of SWS may include neurological abnormalities like seizures and eye problems like glaucoma.

2. What does the name Von Hippel-Lindau mean?

• Von Hippel-Lindau syndrome (VHL) is an inherited condition associated with tumors forming in multiple organs. Most tumors are hemangioblastomas, which are blood vessel tumors of the brain, spinal cord, and retina.

3. Is Von Hippel-Lindau an autoimmune disorder?

• Von Hippel-Lindau syndrome (VHL) is an autosomal dominant disorder characterized by renal cysts, retinal angiomas, central nervous system hemangioblastomas, and pancreatic cysts. So, it is not an autoimmune condition.

4. What type of mutation causes von Hippel-Lindau syndrome?

• Von Hippel-Lindau (VHL) syndrome is a rare disorder caused by a mutation in a single gene. Inherited or denovo mutations in the VHLgene cause von Hippel-Lindau syndrome. In this condition, people are at greater risk of developing certain tumors.

Reference:

1. “What Is the Sturge-Weber Syndrome.” The Sturge-Weber Foundation.
2. “Von Hippel-Lindau Disease – Symptoms, Causes, Treatment.” National Organization for Rare Disorders.

Image Courtesy:

1. “Sturge–Weber syndrome” By Imrankabirhossain – Own work (CC BY-SA 4.0) via Commons Wikimedia

2. “Locations of cysts and tumors in Von Hippel–Lindau disease” By Schunemann V, Huntoon K, Lonser RR – Figure 1, from: Schunemann V, Huntoon K, Lonser RR (2016). “Personalized Medicine for Nervous System Manifestations of von Hippel-Lindau Disease” Front Surg 3: 39. DOI:10.3389/fsurg.2016.00039. PMID 27446927. PMC: 4928600.- (CC BY 4.0) via Commons Wikimedia