Leukodystrophy
A group of rare genetic neurodegenerative disorders that affect infants and children. These disorders are characterized by metabolic abnormalities in the development of the myelin sheaths in the white matter. Clinical signs and symptoms include developmental delays, mental retardation, dementia, seizures, loss of motor skills, and muscle weakness. Representative examples include metachromatic leukodystrophy, Krabbe disease, Canavan disease, and Alexander disease.
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D is the correct answer
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Thanks Curofy and all Doctors who answered the case. Final diagosis : Seronegative autoimmune encephalopathy with super refractoryStatus Epilepticus. Autoimmune work up including NMDA,AMPA 1 & 2,CASPR 2/ VGKC,LG1,GABA done - ve. Antinucle...
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Recent Cases of Leukodystrophy
Browse recently discussed Leukodystrophy cases by specialistsTop Cases of Leukodystrophy
Selected by editors, top cases are known for unique problem or best solutionTop Leukodystrophy Doctors on Curofy
Top doctors who continously share their opinions on LeukodystrophyKerala Institute of Medical Sciences
Professor and Senior Consultant Neurology
Medical College Thiruvananthapuram
MBBS,MD (Med) ,DM(Neurology),DNB(Neurology), FAAN(Fellow of American Academy of Neurology)
General Hospital Kanakapur
Md Pediatrics
MD Pediatrics
pediatrics
JLN MC Attached Satellite Hospital
JS Pediatrics
Dr S N Medical College
MBBS, MD
Gandhi Medical College.
M.B.B.S.
Shree Krishna Hospital
Resident
Pramukhswami Medical College
MD, INTERNAL MEDICINE
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29 Y female having B/L knee joint pain from past 3 months , no physical signs of inflammation. No history of trauma / fall , She is non obese , lean body Previous medical history Not significant Investigations Uric acid - normal X RAY knee joint AP & lat RX given VIT D3 60K Zerodol SP What
Wahib Zaidi2 Likes9 Answers - Login to View the image
Fch.14 yrs. Deformity left wrist since birth. Restricted movement & pain after activity Lt.wrist. 2years.
Dr. Syam Sundar Patro1 Like6 Answers - Login to View the image
How to manage this type of fracture in 7 year kid *Chief Complaints* 7 year female kid complaining of Difficulty in walking n weight bearing on left lower limb *History* 7 year kid Sustained injury following sudden collapse of bike over the left lower limb *Vitals* All stable left dorsalis pedias felt vital stable *Physical Examination* Left lower limb is shortened extremely externally rotated tense tender at mid thigh of left lower limb *Investigations* X-ray tagged *Diagnosis* ? *Management* ?
Dr. Yashavardhan T M0 Like5 Answers - Login to View the image
Pale Skin,swellingg *Chief Complaints* Swelling on face and ghabrahat,urine incontinence,urine pass out by Folly’s catheter *History* 55 yrs/F No h/o heavy bleeding,piles *Vitals* Normal *Physical Examination* Pale skin,swelling on face,unable to walk *Investigations* Hb% 2.2g/dl TLC 12600 Plts 4.56 18/5/24 LFT KFT WNL RBS 108 USG Shows:- Renal cyst Cystitis
Dr. Parvez Alam2 Likes4 Answers - Login to View the image
History of fall on out stretched hand complaint of pain and difficulty in lifting right shoulder *Chief Complaints* complaint of pain and difficulty in lifting right shoulder *History* Fall on out stretched hand *Vitals* Stable *Physical Examination* Difficulty in lifting right shoulder Hamilton ruler test cannot be performed due to extreme obese Cannot touch opp shoulder by right hand *Investigations* X-ray tagged *Diagnosis* Anterior shoulder dislocation *Management* ???
Dr. Yashavardhan T M0 Like4 Answers
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