Presentation
We present the MR imaging findings in four patients (two pairs of siblings from two unrelated families) with adult Krabbe disease. In the first family, clinical presentation mimicked familial spastic paraplegia. [ncbi.nlm.nih.gov]
Entire Body System
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Fever
1841 - 1912） Norwegian physician Hartmann ハルトマン Hartmann's operation ハルトマン手術 Hartnup ハートナップ Hartnup disease ハートナップ病 Hashimoto 橋本 Hashimoto's disease 橋本病 橋本 策（はかる）（1881 - 1934） 九州大学の外科医 Hassall ハッサル Hassall's corpuscle ハッサル小体 Haverhill ヘーバヒル Haverhill fever [jams.med.or.jp]
Neurologic
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Ataxia
(Friedreich ataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia, other) Autism / Asperger syndrome Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann [kumc.edu]
ガン Marcus Gunn phenomenon マーカス ガン現象 RobertMarcus Gunn （1850-1909） Scottishophthalmologist Marek マレック Marek's disease virus マレック病ウイルス Marfan マルファン Marfan's syndrome マルファン症候群 AntoineBernard-Jean Marfan （1858-1942） French pediatrician Marie マリー Marie's ataxia [jams.med.or.jp]
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Seizure
R184 C ( c.550C T ) 19 M 3 months 5 months Psychomotor retardation, regression, hypotonia, seizures, abnormal MRI 0.0 0.007 653 c.1161 6532_polyA 9kbdel/ unknown het p. R184C ( c. 550C T ) hem p. [ncbi.nlm.nih.gov]
[…] syndrome ハーラー症候群 GertrudHurler（1889-1965） Germanpediatrician Hutchinson ハッチンソン Hutchinson's teeth ハッチンソン歯 Hutchinson-Gilford ハッチンソン・ギルフォード Hutchinson-Gilford syndrome ハッチンソン・ギルフォード症候群 Ivemark イヴェマルク Ivemark syndrome イヴェマルク症候群 Jackson ジャクソン jacksonian seizure [jams.med.or.jp]
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Spastic Paraplegia
In the first family, clinical presentation mimicked familial spastic paraplegia. [ncbi.nlm.nih.gov]
paraplegia, other) Autism / Asperger syndrome Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann syndrome Blepharophimosis Blind (vision anomalies) Brain Conditions / Disorders [kumc.edu]
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Irritability
megalencephaly, CSF protein level – 0.0 434 c.1161 6532_polyA 9kbdel/c.1161 6532_polyA 9kbdel hom p.R184C ( c.550C T ) 2 M Unknown 4 months Seizures, irritability, feeding difficulties CSF protein level – 0.03 23 – 3 F 6 months 10 months Psychomotor [ncbi.nlm.nih.gov]
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Peripheral Neuropathy
neuropathy, abnormal MRI 0.0 0.015 11 p. [ncbi.nlm.nih.gov]
Treatment
2016 Characterization of early disease status in treatment-naive male paediatric patients with fabry disease enrolled in a randomized clinical trial PLoS ONE DOI: 10.1371/journal.pone.0124987 2015 [bcchr.ca]
Pathogenesis of leukodystrophy for Krabbe disease : molecular mechanism and clinical treatment Sakai N Brain and development, 2009, 31, 7, p. 485-487 Hematopoietic stem cell gene therapy in Hurler syndrome, globoid cell leukodystrophy, metachromatic leukodystrophy [myobase.org]
Since umbilical cord blood can regenerate tissue and modulate the immune system, umbilical cord blood has the potential to be used in the treatment of many other non-hematologic conditions. [cb-association.org]
P421 Epidemiological study of occurrence, clinical course and treatment options of IBD in Serbia. Results of ESCApe study. Journal of Crohn’s and Colitis. 6, S177. 13. [content.sciendo.com]
P421 Epidemiological study of occurrence, clinical course and treatment options of IBD in Serbia. Results of ESCApe study. Journal of Crohn’s and Colitis. 6, S177. Google Scholar 13. [degruyter.com]
Epidemiology
P421 Epidemiological study of occurrence, clinical course and treatment options of IBD in Serbia. Results of ESCApe study. Journal of Crohn’s and Colitis. 6, S177. 13. [content.sciendo.com]
Clinical epidemiology of inflammatory bowel disease: incidence, prevalence, and environmental influences. Gastroenterology. 126(6), 1504-1517. Google Scholar 3. [degruyter.com]
Prevention
Understanding and preventing the global increase of inflammatory bowel disease. Gastroenterology. 152(2), 313-321. e312. 6. Lovasz, B.D., Golovics, P.A., Vegh, Z. & Lakatos, P.L. (2013). [content.sciendo.com]
Understanding and preventing the global increase of inflammatory bowel disease. Gastroenterology. 152(2), 313-321. e312. Web of Science Google Scholar 6. Lovasz, B.D., Golovics, P.A., Vegh, Z. & Lakatos, P.L. (2013). [degruyter.com]