Early onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly

2021 ◽  
Vol 31 (1) ◽  
pp. 52-55
Author(s):  
Daniela Avila-Smirnow ◽  
Gloria Durán-Saavedra ◽  
Pilar Ovalle-Besa ◽  
Roger Gejman-Enríquez
Keyword(s):  
Neutral Lipid ◽  
Early Onset ◽  
Storage Disease ◽  
Lipid Storage ◽  
Lipid Storage Disease ◽  
Neutral Lipid Storage Disease

G.P.11.02 Early-onset neutral lipid storage disease with myopathy due to PNPLA2 mutations

2009 ◽  
Vol 19 (8-9) ◽  
pp. 623
Author(s):  
D. Cassandrini ◽  
F. Trucco ◽  
S. Scapolan ◽  
G.M. Magnano ◽  
S. Pessano ◽  
...  
Keyword(s):  
Neutral Lipid ◽  
Early Onset ◽  
Storage Disease ◽  
Lipid Storage ◽  
Lipid Storage Disease ◽  
Neutral Lipid Storage Disease

Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant

2018 ◽  
Vol 28 (7) ◽  
pp. 606-609 ◽  
Author(s):  
Caitlin S. Latimer ◽  
Jennifer Schleit ◽  
Adam Reynolds ◽  
Desiree A. Marshall ◽  
Benjamin Podemski ◽  
...  
Keyword(s):  
Neutral Lipid ◽  
Storage Disease ◽  
Lipid Storage ◽  
Phenotypic Characterization ◽  
Lipid Storage Disease ◽  
Neutral Lipid Storage Disease

scholarly journals Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review

2020 ◽  
Vol 83 (3) ◽  
pp. 317-322
Author(s):  
Makoto Samukawa ◽  
Naoko Nakamura ◽  
Makito Hirano ◽  
Miyuki Morikawa ◽  
Hanami Sakata ◽  
...  
Keyword(s):  
Neutral Lipid ◽  
Storage Disease ◽  
Clinical Laboratory ◽  
Lipid Storage ◽  
Compound Heterozygous ◽  
Homozygous Mutation ◽  
Lipid Storage Disease ◽  
Consistent Finding ◽  
Pulmonary Cysts ◽  
Neutral Lipid Storage Disease

Mutations in the PNPLA2 gene cause neutral lipid storage disease with myopathy (NLSDM) or triglyceride deposit cardiomyovasculopathy. We report a detailed case study of a 53-year-old man with NLSDM. The PNPLA2 gene was analyzed according to the reported method. We summarized the clinical, laboratory, and genetic information of 56 patients, including our patient and 55 other reported patients with homozygous or compound heterozygous mutations in the PNPLA2 gene. We found a novel homozygous mutation (c.194delC) in the PNPLA2 gene that resulted in frameshift. The patient suffered from normal-tension glaucoma and pulmonary cysts, symptoms that are relatively common in the elderly but were not previously reported for this disease. Our summary confirmed that Jordan’s anomaly, polymorphonuclear leukocytes with lipid accumulation, was the most consistent finding of this disease. Because this disease is potentially treatable, our results may help rapid and correct diagnosis.

Neutral lipid storage disease co-existing with ichthyosiform dermatosis

1994 ◽  
Vol 153 (3) ◽  
pp. 210-211 ◽  
Author(s):  
A. Dursun ◽  
A. Kubar ◽  
A. Gokoz ◽  
F. Duru ◽  
A. Gürgey
Keyword(s):  
Neutral Lipid ◽  
Storage Disease ◽  
Lipid Storage ◽  
Lipid Storage Disease ◽  
Neutral Lipid Storage Disease

Neutral lipid-storage disease with myopathy and extended phenotype with novelPNPLA2mutation

2016 ◽  
Vol 53 (4) ◽  
pp. 644-648 ◽  
Author(s):  
Roberto Massa ◽  
Simone Pozzessere ◽  
Emanuele Rastelli ◽  
Laura Serra ◽  
Chiara Terracciano ◽  
...  
Keyword(s):  
Neutral Lipid ◽  
Storage Disease ◽  
Lipid Storage ◽  
Extended Phenotype ◽  
Lipid Storage Disease ◽  
Neutral Lipid Storage Disease

Neutral lipid storage disease with ichthyosis: Lipid content and metabolism of fibroblasts

1988 ◽  
Vol 11 (2) ◽  
pp. 131-143 ◽  
Author(s):  
M. L. Williams ◽  
D. J. Monger ◽  
S. L. Rutherford ◽  
M. Hincenbergs ◽  
S. J. Rehfeld ◽  
...  
Keyword(s):  
Neutral Lipid ◽  
Lipid Content ◽  
Storage Disease ◽  
Lipid Storage ◽  
Lipid Storage Disease ◽  
Neutral Lipid Storage Disease

Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report

1994 ◽  
Vol 19 (5) ◽  
pp. 434-437 ◽  
Author(s):  
J. BANULS ◽  
I. BETLLOCH ◽  
R. BOTELLA ◽  
A. SEVILA ◽  
A. MORELL ◽  
...  
Keyword(s):  
Case Report ◽  
Neutral Lipid ◽  
Storage Disease ◽  
Lipid Storage ◽  
Lipid Storage Disease ◽  
Neutral Lipid Storage Disease
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