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
- Fever
i.e. fever with no other sign of infection stiff posture slow mental and physical development trouble moving trouble chewing and swallowing trouble breathing vision loss that may lead to blindness seizures vomiting (2, 4) Symptoms of late-onset Krabbe [news-medical.net]
[…] surgeon and William Stokes (1804 -1878) Irish physician, Chiari キアリ Chiari's malformation キアリ奇形 Hans Chiari(1851 − 1916) German pathologist= Arnold Chiari malformation, Budd-Chiari syndorome の Chiari も同一人物 Chikungunya チクングンヤ Chikungunya hemorrhagic fever [jams.med.or.jp]
- Weakness
[…] type of cell that tend to have more than one nucleus and are globe-shaped. (4) Symptoms of early-onset Krabbe disease Symptoms of early-onset Krabbe disease include: irritability sensitivity to loud sounds hearing loss that may lead to deafness muscle weakness [news-medical.net]
- Pathologist
人名(日本語) 使用例(英語) 使用例(日本語) 備考 Aarskog アースコグ Aarskog's syndrome アースコグ症候群 DagfinnAarskog (1928- ) Norwegianpediatrician and human geneticist Adamkiewicz アダムキーヴィッツ Adamkiewicz' artery アダムキーヴィッツ動脈 AlbertWojciech Adamkiewicz (1850-1921) Polish physician and pathologist [jams.med.or.jp]
- Raynaud Syndrome
Rasmussen ラスムッセン Rasmussen's encephalitis ラスムッセン脳炎 TheodoreBrown Rasmussen (1910-2002) American neurologist Rathke ラトケ Rathke's pouch ラトケ嚢 Raynaud レイノー Raynaud's syndrome レイノー症候群 A. [jams.med.or.jp]
Neurologic
- 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]
[…] muscle weakness feeding difficulties unexplained fever, i.e. fever with no other sign of infection stiff posture slow mental and physical development trouble moving trouble chewing and swallowing trouble breathing vision loss that may lead to blindness seizures [news-medical.net]
[…] 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]
- 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]
- Irritability
hypotonia, megalencephaly, psychomotor retardation, loss of vision, abnormal MRI – 0.03 75 p.I250T (c.749T>C)/p.I250T (c.749T>C) 9 F 4.5 months 6.5 months Irritability, hypertonia, opisthotonus, loss of vision, abnormal MRI – 0.03 398 p.I250T (c.749T [ncbi.nlm.nih.gov]
These are a type of cell that tend to have more than one nucleus and are globe-shaped. (4) Symptoms of early-onset Krabbe disease Symptoms of early-onset Krabbe disease include: irritability sensitivity to loud sounds hearing loss that may lead to deafness [news-medical.net]
- 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]
The latter involves taking cells from the mother’s placenta. (15, 19) Potential treatments for Krabbe disease Currently, there are no cures for Krabbe disease; however, treatments have been attempted. [news-medical.net]
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]
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]