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    Last Updated: 10/30/2025

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    MediFind found 2 doctor with experience in Megalencephalic Leukoencephalopathy with Subcortical Cysts near San Jose, CA. Of these, 2 are Experienced.

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    2 providers found
      Experienced in Megalencephalic Leukoencephalopathy with Subcortical Cysts
      Pediatrics | Medical Genetics
      Experienced in Megalencephalic Leukoencephalopathy with Subcortical Cysts
      Pediatrics | Medical Genetics

      Permanente Medical Group Inc

      5755 Cottle Rd, 
      San Jose, CA 
       (7.7 miles away)
      Languages Spoken:
      English

      Sushma Guptha is a Pediatrics specialist and a Medical Genetics provider in San Jose, California. Dr. Guptha is rated as an Experienced provider by MediFind in the treatment of Megalencephalic Leukoencephalopathy with Subcortical Cysts. Her top areas of expertise are Chromosome 13q Duplication, Chromosome 10q Deletion, Tracheoesophageal Fistula, and Macroglossia.

      Experienced in Megalencephalic Leukoencephalopathy with Subcortical Cysts
      Medical Genetics | Pediatrics
      Experienced in Megalencephalic Leukoencephalopathy with Subcortical Cysts
      Medical Genetics | Pediatrics
      1804 Embarcadero Rd, Ste 100, 
      Palo Alto, CA 
       (14.9 miles away)
      Languages Spoken:
      English

      Natalia Gomez-Ospina is a Medical Genetics specialist and a Pediatrics provider in Palo Alto, California. Dr. Gomez-Ospina is rated as an Experienced provider by MediFind in the treatment of Megalencephalic Leukoencephalopathy with Subcortical Cysts. Her top areas of expertise are Incontinentia Pigmenti, Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant, and Myhre Syndrome.

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      Last Updated: 10/30/2025

      What is the definition of Megalencephalic Leukoencephalopathy with Subcortical Cysts?

      Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a condition that affects brain development and function. Individuals with this condition have an enlarged brain (megalencephaly) and an abnormality of the white matter in the brain (leukoencephalopathy). White matter consists of nerve fibers covered by a fatty substance called myelin that promotes the rapid transmission of nerve impulses. In MLC, the myelin is swollen and contains numerous fluid-filled pockets (vacuoles). Over time, the swelling decreases and the myelin begins to waste away (atrophy). Leukoencephalopathy can lead to abnormal muscle tensing (spasticity), difficulty coordinating movements (ataxia), cysts in the brain (subcortical cysts), abnormal muscle tone (dystonia), swallowing difficulties, mild to moderate intellectual disabilities, speech difficulties, seizures, and difficulties walking. There are three types of MLC, which are distinguished by their signs and symptoms and genetic cause. Type 1 is caused by genetic changes in the MLC1 gene. Types 2A and 2B are caused by genetic changes in the HEPACAM gene. MLC types 1 and 2A are inherited in an autosomal recessive manner, while type 2B is inherited in an autosomal dominant manner. In some cases of MLC, the cause is unknown.

      When should I see a Megalencephalic Leukoencephalopathy with Subcortical Cysts doctor near San Jose, CA?

      There are various reasons why you may want to see a specialist, such as: 

      • Your primary care provider recommends it. 
      • Your condition requires expert knowledge and specialized care. 
      • Your symptoms persist or worsen despite treatment. 
      • You need specialized testing or procedures. 
      • You want a second opinion.  

      What should I consider when choosing a Megalencephalic Leukoencephalopathy with Subcortical Cysts doctor near San Jose, CA?

      It’s important to see a provider with expertise in your specific condition. Each provider profile in MediFind’s doctor database includes information on which conditions they treat, years of experience, research contributions, languages spoken, insurance plans accepted, and more.  

      How does MediFind rank Megalencephalic Leukoencephalopathy with Subcortical Cysts doctors near San Jose, CA?

      MediFind’s rankings are based on a variety of data sources, such as the number of articles a doctor has published in medical journals, participation in clinical trials and industry conferences, as well as the number of patients that provider sees for a given condition. Note that MediFind’s provider database is not based on user reviews, and providers do not pay to be included in the database. 

      What types of insurance are accepted by Megalencephalic Leukoencephalopathy with Subcortical Cysts doctors near San Jose, CA?

      Most profiles in MediFind’s doctor database include a list of insurance plans accepted by that provider. However, it’s a good idea to contact the provider’s office to make sure they still accept your insurance, then doublecheck by contacting your insurance plan to confirm they’re in network. 

      How can I book an appointment online with a Megalencephalic Leukoencephalopathy with Subcortical Cysts doctor near San Jose, CA?

      MediFind offers direct scheduling for certain providers using the “Request Appointment” button on that provider’s profile. If the schedule option is not available for a provider, tap the red “Show Phone Number” button on their profile to get their contact information. If you prefer to find providers who offer online scheduling, select “Schedules online” under the “Availability” category of the filter feature on the left side of the Megalencephalic Leukoencephalopathy with Subcortical Cysts doctor search results page. 

      Why is it important to get a second opinion from a different Megalencephalic Leukoencephalopathy with Subcortical Cysts doctor?

      Second opinions are an opportunity to confirm a diagnosis and its root cause, learn about alternative treatment options, or simply gain peace of mind. Many people, especially those with serious diagnoses, get second opinions so they can understand all their options and make informed decisions, so don’t hesitate to get one if you have any doubts or need more information or clarification regarding your care. Note that some insurance plans require second opinions, while others don’t cover second opinions, so be sure to confirm with your insurance provider first.   

      How can I prepare for my appointment with a Megalencephalic Leukoencephalopathy with Subcortical Cysts doctor near San Jose, CA?

      Prepare for your appointment by gathering the following items: 

      • Copies of medical records (dating back at least one year) 
      • Your medical history, including illnesses, medical conditions, surgeries, and other doctors you see 
      • Family history of disease 
      • List of current prescription drugs, over-the-counter medicines, vitamins, and herbal remedies or supplements including names and doses 
      • Allergies to medications, food, latex, insects, etc.  
      • List of questions and concerns 
      • Your insurance card 

      You might also contact the provider’s office to see if they offer transportation or childcare services or if you’re allowed to bring a loved one for support or to take notes during your visit. 

      What questions should I ask my Megalencephalic Leukoencephalopathy with Subcortical Cysts doctor?

      Here are some sample questions: 

      • Can you explain in simple terms what this condition is and how it’s treated? 
      • What symptoms or side effects should I watch for? 
      • What tests will be involved, and when can I expect results? 
      • Are there other specialists I need to see? 
      • What’s the best way to reach you if I have follow-up questions? 

      How can I learn about the latest clinical trials and research advances my Megalencephalic Leukoencephalopathy with Subcortical Cysts doctor may know about?

      MediFind’s Clinical Trials tool asks you a series of questions to help you narrow down your search by health condition, age, gender, location, how far you’re willing to travel, and more. Each question you answer filters down the number of trials until you find the ones that are most relevant to you. 

      MediFind’s Latest Advances tool features summaries of recent articles published in medical journals. We use cutting-edge technology to scour medical publication databases for the latest research advancements on any given condition, then we simplify this information in a way that’s useful and easy to understand. 

      Can I filter my search to show male or female Megalencephalic Leukoencephalopathy with Subcortical Cysts doctors near San Jose, CA?

      Look for the filter feature on the left side of the Megalencephalic Leukoencephalopathy with Subcortical Cysts doctor search results page. Select “Female” or “Male” under the “Gender” category to search for female or male providers exclusively. If the “Any” option is selected, it will pull results for both male and female providers. 

      Can I filter my search to find a Megalencephalic Leukoencephalopathy with Subcortical Cysts doctor that offers video calls?

      Look for the filter feature on the left-side of the Megalencephalic Leukoencephalopathy with Subcortical Cysts doctor search results page. Select “Offers telehealth visits” under the Availability category to search for providers who offer virtual appointments (video calls). 

      Reviewed on: 11/11/24  

      By: MediFind Medical Staff 

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