An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus

Pediatric and Developmental Pathology

Volumn 12, Issue 1, 2009, Pages 53-58

  Kepron, Charis ^a   Blumenthal, Andrea ^b   Chitayat, David ^a,c   Cutz, Ernest ^a,d   Superti Furga, Andrea ^e   Keating, Sarah ^a,c  

^a UNIVERSITY OF TORONTO   (Canada)

^b CREDIT VALLEY HOSPITAL   (Canada)

^c MOUNT SINAI HOSPITAL   (Canada)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Autophagic vacuolar myopathy; Fetal hydrops; LAMP 2 deficiency

Indexed keywords

ADULT; ARTICLE; AUTOPHAGIC VACUOLAR MYOPATHY LIKE LYSOSOMAL STORAGE DISEASE; AUTOPHAGY; CASE REPORT; CELL VACUOLE; CLINICAL FEATURE; FEMALE; FETUS; FETUS ECHOGRAPHY; FETUS HYDROPS; GESTATIONAL AGE; HEART MUSCLE CELL; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KUPFFER CELL; LIVER CELL; LYSOSOME STORAGE DISEASE; MYOPATHY; PREGNANCY TERMINATION; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ADULT; AUTOPHAGY; FEMALE; FETUS; HEPATOCYTES; HUMANS; HYDROPS FETALIS; KUPFFER CELLS; LYSOSOMAL STORAGE DISEASES; MICROSCOPY, ELECTRON, TRANSMISSION; MUSCULAR DISEASES; MYOCYTES, CARDIAC; PREGNANCY; VACUOLES;

EID: 61449247279     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/07-11-03670.1     Document Type: Article

References (9)

1. Nishino I. Autophagic vacuolar myopathy. Semin Pediatr Neurol 2006;13:90-95.
2. Holton JL, Beesley C, Jackson M, et al. Autophagic vacuolar myopathy in twin girls. Neuropathol Appl Neurobiol 2006;32:253-259.
3. Lobrinus JA, Schorderet DF, Payot M, et al. Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease). Neuromuscul Disord 2005;15:293-298.
4. Balmer C, Ballhausen D, Bosshard NU, et al. Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2 gene. Eur J Pediatr 2005;164:509-514.
5. Burin M, Scholz A, Gus R, et al. Investigation of lysosomal storage diseases in nonimmune hydrops fetalis. Prenat Diagn 2004;24:653-657.
6. Portmann B, Thompson R, Roberts E, Paterson A. Genetic and metabolic liver disease. In: Burt A, Portmann B, Ferrell L, eds. MacSween's Pathology of the Liver, 5th ed. Philadelphia: Churchill Livingstone, 2007;199-326.
7. Sahoo S, Blumberg AK, Sengupta E, Hart J. Type IV glycogen storage disease. Arch Pathol Lab Med 2002;126:630-631.
8. Fernandez C, Figarella-Branger D, Meyronet D, Cassote E, Tong S, Pellissier J-F. Electron microscopy in neuromuscular disorders. Ultra-struct Pathol 2005;29:437-450.
9. Kaneda D, Sugie K, Yamamoto A, et al. A novel form of autophagic vacuolar myopathy with late onset and multiorgan involvement. Neurology 2003;61:128-131.