Hepatosplenomegaly and progressive neurological symptoms - Late manifestation of Niemann-Pick disease type C - a case report -

2001 ◽  
Vol 39 (11) ◽  
pp. 971-974 ◽  
Author(s):  
A R. J Schneider, MD ◽  
F Stichling, MD ◽  
M Hoffmann, MD ◽  
R Scheler, MD ◽  
J C Arnold, MD ◽  
...  
Keyword(s):  
Case Report ◽  
Disease Type ◽  
Neurological Symptoms ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Late Manifestation ◽  
Pick Disease

scholarly journals Niemann-Pick Disease Type C Misdiagnosed as Cerebral Palsy: A Case Report

2019 ◽  
Vol 43 (5) ◽  
pp. 621-624
Author(s):  
Eun Jae Ko ◽  
In Young Sung ◽  
Han-Wook Yoo
Keyword(s):  
Cerebral Palsy ◽  
Case Report ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals Nutrition management of Niemann Pick disease type C: A case report

2021 ◽  
Vol 55 (4) ◽  
pp. 238-241
Author(s):  
Rejane Viana dos Santos ◽  
Tamila das Neves Ferreira ◽  
Daniela Oliveira de Almeida ◽  
Lilian Brito da Silva Fatal ◽  
Edilene Maria Queiroz Araujo
Keyword(s):  
Case Report ◽  
Genetic Diseases ◽  
Pharmacological Therapy ◽  
Disease Type ◽  
Omega 3 ◽  
Niemann Pick Disease ◽  
Nutrition Service ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

Abstract Objectives. We aim to report the clinical repercussions of a nutritional approach in a patient diagnosed with Niemann Pick disease type C (NPC) using miglustat as pharmacological therapy. Case report. A 33-year-old woman diagnosed with NPC using miglustat was instructed to look for a dietary management at our nutrition service. Patient’s symptoms were weight loss and important gastrointestinal alterations. Our nutritional prescription was a high-calorie and high-protein, lactose- and sucrose-free diet, as well as a daily supplementation of L-glutamine, probiotics, omega 3, and coenzyme Q10. After two months, the patient had weight gain and improvement in the intestinal health. Conclusions. We found that nutritional prescription aided in the treatment of NPC and revealed that nutritional care represents an important strategy in the management of rare genetic diseases.

Niemann-Pick Disease Type C: Case Report with Ultastructural Findings1

1973 ◽  
Vol 4 (02) ◽  
pp. 207-225 ◽  
Author(s):  
A. Anzil ◽  
K. Blinzinger ◽  
P. Mehraein ◽  
S. Dozic
Keyword(s):  
Case Report ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry

2017 ◽  
Vol 20 (4) ◽  
pp. 310-319 ◽  
Author(s):  
Olivier Bonnot ◽  
Clarissa S. Gama ◽  
Eugen Mengel ◽  
Mercè Pineda ◽  
Marie T. Vanier ◽  
...  
Keyword(s):  
Disease Type ◽  
Neurological Symptoms ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report

2018 ◽  
Vol 39 (6) ◽  
pp. 1015-1019 ◽  
Author(s):  
Stefano Tozza ◽  
Raffaele Dubbioso ◽  
Rosa Iodice ◽  
Antonietta Topa ◽  
Marcello Esposito ◽  
...  
Keyword(s):  
Case Report ◽  
Cognitive Decline ◽  
Disease Type ◽  
Term Therapy ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Long Term Therapy ◽  
Pick Disease

Treatment of a child diagnosed with Niemann–Pick disease type C with miglustat: A case report in Brazil

2008 ◽  
Vol 31 (S2) ◽  
pp. 357-361 ◽  
Author(s):  
M. L. F. Santos ◽  
S. Raskin ◽  
D. S. Telles ◽  
A. Löhr Junior ◽  
P. B. N. Liberalesso ◽  
...  
Keyword(s):  
Case Report ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease
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