Maroteaux-Lamy syndrome

Also known as: 마로토-라미 증후군 Mucopolysaccharidosis VI형, 마로토-라미증후군, 뮤코다당체침착증 Ⅵ형

Neurosurgery doctors

Doctors who treat Maroteaux-Lamy syndrome

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Ewha Womans University Mokdong Hospital Park Eun-ae

Park Eun-ae

Ewha Womans University Mokdong Hospital · Pediatrics

미숙아·신생아질환(신생아황달, 호흡곤란 등), 미숙아 추적 관리, 선천 기형, 유전질환

5.0
Inha University Hospital Lee Ji-eun

Lee Ji-eun

Inha University Hospital · Pediatrics

소아유전대사, 내분비대사, 당뇨병, 비만, 성장이상(저신장,성조숙증), 염색체이상, 유전성희귀질환

5.0
Chungnam National University Hospital Lim Han-hyeok

Lim Han-hyeok

Chungnam National University Hospital · Pediatrics

내분비대사질환(당뇨병, 갑상선, 뇌하수체질환, 성분화이상, 비만), 성장이상(저신장, 성조숙증) 유전대사질환클리닉★ 심층진료★

5.0
Kangbuk Samsung Hospital Yang A-ram

Yang A-ram

Kangbuk Samsung Hospital · Pediatrics

1형 및 2형 당뇨 (인공췌장클리닉), 희귀유전질환 (Turner syndrome, Prader-Willi syndrome, 골이형성증 그외 유전대사질환-성인포함), 리소좀축적질환 (뮤코다당증, 고셔병, 폼페병), 내분비 질환 (성장/사춘기, 소아비만, 갑상선, 부신 및 뇌하수체질환 등)

5.0
Seoul National University Bundang Hospital Kim Jae-hyeon

Kim Jae-hyeon

Seoul National University Bundang Hospital · Pediatrics

소아청소년당뇨병, 대사증후군/비만, 고지혈증, 갑상샘질환, 부신질환, 뇌하수체질환, 성장장애, 사춘기질환

4.0
Seoul National University Bundang Hospital Kim Ji-hyeon

Kim Ji-hyeon

Seoul National University Bundang Hospital · Pediatrics

혈뇨, 단백뇨, 유전성 신질환, 알포트 증후군, 요로감염, 수신증, 선천성 신장 요로 기형, 만성 콩팥병, 급성 신손상, 자반증, 신장염, 신증후군, 야뇨증

4.0
Inha University Hospital Kim Su-jin

Kim Su-jin

Inha University Hospital · Pediatrics

유전성대사질환, 사춘기질환, 저신장, 당뇨병, 갑상선 내분비질환, 소아신장질환(혈뇨, 단백뇨, 신증후군, 급/만성 신부전, 선천성 신장질환)

Konyang University Hospital Oh Jun-seok

Oh Jun-seok

Konyang University Hospital · Pediatrics

성조숙증, 저신장, 당뇨, 비만, 갑상선 질환 등 소아내분비 질환, 희귀질환(극희귀질환 진단 의사)

Korea University Ansan Hospital Kang Eun-gu

Kang Eun-gu

Korea University Ansan Hospital · Pediatrics

유전, 대사내분비 클리닉

Inje University Busan Paik Hospital Lee Bo-ryeon

Lee Bo-ryeon

Inje University Busan Paik Hospital · Pediatrics

소아뇌전증, 경련, 두통, 발달지연, 신경유전질환, 희귀유전질환(신경섬유종, 결절성경화증, 염색체이상, 다발성기형, 저인산혈증구루병), 희귀유전질환클리닉 : 목요일 오후

Disease Description (Causes and Symptoms)

  • Definition and causes
    • Lyme disease is an infection caused mainly by ticks of the genus Ixodes (hard ticks), which serve as vectors. Spirochetes living in the tick’s intestines enter the bloodstream and tissues when the tick bites a person.
  • Summary of pathophysiology
    • After a local infection, it spreads through the bloodstream or lymphatic system, causing inflammation in multiple organs, including the nervous system, heart, and joints. Depending on the time course of the infection, it may progress from early localized (skin) disease → early disseminated disease (within several weeks) → delayed/chronic joint and neurological symptoms (months to years).
  • Main symptoms
    • Early stage (days to weeks): typical erythema migrans (a rash that expands outward from the center), fever, chills, headache, muscle aches, and fatigue
    • Disseminated stage (several weeks to several months): pain in multiple areas, nervous system involvement (facial paralysis, neuralgia, meningitis-like symptoms), and cardiac involvement (cardiac conduction abnormalities, myocarditis)
    • Late stage (months to years): recurrent arthritis (especially of the knee), chronic neurological symptoms (cognitive and memory problems, peripheral nerve symptoms), and persistent fatigue
    • Rarely, eye problems (such as uveitis) and severe emotional changes may also occur

Treatment Methods and Precautions

  • Standard antibiotic treatment (general principles)
    • Early localized disease (erythema migrans): oral doxycycline 100 mg twice daily (adults) or amoxicillin (pregnancy and children) for 10–21 days (depending on the clinical situation, 10–14 days is generally recommended)
    • Disseminated disease or severe joint or neurological involvement: oral antibiotics (doxycycline or amoxicillin) for 14–28 days, or intravenous ceftriaxone for 14–28 days in cases of severe disease or central nervous system or cardiac involvement
    • Recurrent arthritis (including persistent arthritis after treatment): 28 days of oral therapy; intravenous therapy may be considered if necessary
  • Medication selection in special situations
    • Pregnancy, breastfeeding, and infants and young children (traditionally, children under 8 years of age): amoxicillin is recommended instead of doxycycline
    • In cases of drug allergy or failure to respond to treatment, consult a specialist to select an alternative treatment
  • Side effects and precautions
    • Antibiotic side effects (gastrointestinal symptoms, photosensitivity, etc.) need to be monitored. Avoid exposure to ultraviolet light when taking doxycycline.
    • Some patients may experience prolonged fatigue, pain, cognitive symptoms, and other symptoms after treatment (post-treatment Lyme disease syndrome). The benefits of additional long-term antibiotic treatment are limited; consult a specialist.
    • Rarely, a Jarisch–Herxheimer reaction (acute worsening of symptoms early in treatment) may occur, including fever and muscle pain — manage with symptomatic treatment.
  • Risk of complications
    • If appropriate treatment is delayed, the disease may lead to arthritis, chronic nervous system damage, cardiac complications, and other problems. Rarely, life-threatening complications may occur.

Checklist Before an Outpatient Visit (Including Items to Bring and Example Questions)

  • Items to bring (recommended for a doctor’s visit)
    • A list of currently used medications (including prescription drugs, over-the-counter medications, and supplements)
    • A history of drug allergies and past medical conditions (especially whether you are pregnant; age if the patient is a child)
    • When and where the tick bite occurred (if possible, a photo of the preserved tick), and photos of the bite area (if there is a rash, take photos from multiple angles and at different times)
    • Notes recording when symptoms began and how they have progressed (the timing, severity, and changes in fever, pain, neurological symptoms, etc.)
    • Previous test results (blood tests, imaging, medical records from other hospitals, etc.)
  • Useful information to show the doctor during the outpatient visit
    • Areas where tick exposure is suspected (history of outdoor activities) and the duration of exposure (estimated attachment time)
    • The date symptoms began and how the rash expanded

Examples of General Questions to Ask the Doctor

  • What is the expected duration of treatment with this medication, and what are its major side effects?
  • When are my symptoms expected to improve after treatment? What are the criteria for recovery?
  • Do I need any additional tests during or after treatment (blood tests, neurological examinations, imaging, etc.)?
  • If I am pregnant or breastfeeding, or if I have young children, how will medication selection or precautions differ?
  • What additional measures are needed if symptoms recur or chronic symptoms develop after treatment?

Examples of Disease-Specific Questions

  • Is my skin rash (including the photos) typical erythema migrans, and how do you determine whether serologic testing is needed even without erythema migrans?
  • When the time of the tick bite (or the attachment duration) is unknown, what criteria are used to determine whether preventive antibiotic treatment is needed? (For example, the tick species, the prevalence in the area, and the estimated attachment time.)

Additional Tips (Briefly)

  • Prevention: When engaging in outdoor activities, use insect repellents (DEET or picaridin), treat clothing with permethrin, wear long clothing and tuck pant legs into socks, and check the entire body for ticks and remove them promptly after returning home (use tweezers to grasp the tick close to the skin and gently pull it straight out).
  • Single-dose prophylaxis after exposure (when specific conditions are met): In high-risk areas, if the tick is an Ixodes species and is estimated to have been attached for >36 hours, guidelines recommend considering a single dose of doxycycline 200 mg within 72 hours after exposure; however, whether it should be used depends on local guidelines and the treating doctor’s judgment.

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This information is for general understanding only and does not replace diagnosis, prescription or treatment for an individual patient. If you have symptoms, please see a doctor.

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