Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: Muscle biopsy and autopsy findings, biochemical and molecular genetic studies

Neuromuscular Disorders

Volumn 20, Issue 12, 2010, Pages 783-790

  Taratuto, A L ^a   Akman, H O ^b   Saccoliti, M ^a   Riudavets, M ^a   Arakaki, N ^a   Mesa, L ^d   Sevlever, G ^a,c   Goebel, H ^e   DiMauro, S ^b  

^a FLENI   (Argentina)

^b NewYork Presbyterian Hospital   (United States)

^c Interventional Cardiology Department   (Argentina)

^d University of Favaloro   (Argentina)

^e JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

Andersen disease; Brain; Branching enzyme; General autopsy; GSD IV

Indexed keywords

1,4 ALPHA GLUCAN BRANCHING ENZYME; INOTROPIC AGENT; POLYGLUCOSAN; POLYSACCHARIDE; UNCLASSIFIED DRUG;

ARTICLE; ASSISTED VENTILATION; AUTOPSY; BRADYCARDIA; BRAIN HEMATOMA; BREATHING DISORDER; CARDIOMYOPATHY; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL HYPOTONIA; DRUG MEGADOSE; ELECTROCARDIOGRAM; FEMALE; GENE DELETION; GENE INSERTION; GENE SEQUENCE; GLYCOGEN STORAGE DISEASE TYPE 4; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; JOINT CONTRACTURE; MICROGYRIA; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NOSE FEEDING; PRIORITY JOURNAL; PTOSIS; REFLEX DISORDER; RESPIRATORY TRACT INFECTION; TRACHEOSTOMY;

1,4-ALPHA-GLUCAN BRANCHING ENZYME; BRAIN; FATAL OUTCOME; FEMALE; GLYCOGEN STORAGE DISEASE TYPE IV; HUMANS; INFANT; INFANT, NEWBORN; INFANT, PREMATURE; MUSCLE HYPOTONIA; MUSCLE, SKELETAL;

EID: 78650179957     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.07.275     Document Type: Article

References (29)

1. Quijano Roy S., Mbieleu B., Bonnemann C.J., et al. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol 2008, 64:177-186.
2. Bitoun M., Bevilacqua J.A., Prudhon B., et al. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. Ann Neurol 2007, 62:666-670.
3. Carmignac V., Salih M.A., Quijano-Roy S., et al. C-Terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol 2007, 61:340-351.
4. Zellweger H., Mueller S., Ionasescu V., Schochet S.S., Mc Cormick W.F. Glycogenosis IV. A new cause of infantile hypotonia. J Pediatr 1972, 80:842-844.
5. Van Noort G., Straks W., van Diggelen O.P., Hennekam R.C.M. A congenital variant of glycogenosis type IV. Pediatr Pathol 1993, 13:685-698.
6. Herrick M.K., Twiss J.L., Vladutiu G.D., Glasscock G.F., Horoupian D.S. Concomitant branching enzyme and phosphorylase deficiencies. An unusual glycogenosis with extensive neuronal polyglucosan storage. J Neuropathol Exp Neurol 1994, 53:239-246.
7. Tang T.T., Segura A.D., Chen Y.-T., et al. Neonatal hyopotonia and cardiomyopathy secondary to type IV glycogenosis. Acta Neuropathol 1994, 87:531-536.
8. Bao Y., Kishani P., Wu J.-Y., Chen Y.T. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J Clin Invest 1996, 97:941-948.
9. Nambu H., Kawabe K., Fukuda T., et al. A neonatal form of glycogen storage disease type IV. Neurology 2003, 61:392-394.
10. Janecke A.R., Dertinger S., Ketelsen U.P., et al. Neonatal type IV glycogen storage disease associated with null mutations in glycogen branching enzyme. J Pediatr 2004, 145:705-709.
11. Tay S.K.H., Akman H.O., Chung W.K., et al. Fatal infantile presentation of glycogen storage disease type IV. Neuromuscul Disord 2004, 14:253-260.
12. Bruno C., van Diggelen O.P., Cassandrini D., et al. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology 2004, 63:1053-1058.
13. L'hermine Coulomb A., Beuzen F., Bouvier R., et al. Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family. Am J Med Genet 2005, 139A:118-122.
14. Akman H.O., Karadimas C., Gyftodimou Y., et al. Prenatal diagnosis of glycogen storage disease type IV. Prenat Diagn 2006, 26:951-955.
15. Assereto S., van Diggelen O.P., Diogo L., et al. Null mutations and letal congenital form of glycogen storage disease type IV. Biochem Biophys Res Commun 2007, 361:445-450.
16. Nolte K.W., Janecke A.R., Vorgerd M., Weis J., Schröder J.M. Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene. Acta Neuropathol 2008, 116:491-506.
17. Jimenez-Mallebrera C., Nascimento A., Cusi V., et al. Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period. Histopathology 2009, 54:763-779.
18. Lamperti C, Salani S, Lucchiari S. Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene. J Inherit Metab Dis 2009; April 8 [Epub ahead of print].
19. Lossos A., Barash B., Soffer D., et al. Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. Ann Neurol 1991, 30:655-662.
20. Di Mauro S., Hartlage P.L. Fatal infantile form of muscle phosphorylase deficiency. Neurology 1978, 28:1124-1129.
21. Milstein J.M., Herron T.M., Haas J.E. Fatal infantile muscle phosphorylase deficiency. J Child Neurol 1989, 4:186-188.
22. Guibaud P., Carrier H., Mathieu M., et al. Familial congenital muscular dystrophy caused by phosphofructokinase deficiency. Arch Fr Pediatr 1978, 35:1105-1115.
23. Danon M.J., Carpenter S., Manaligod J.R., Schliselfeld L.H. Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase. Neurology 1981, 31:1303-1307.
24. Servidei S., Bonilla E., Diedrich R.G., et al. Fatal infantile form of muscle phosphofructokinase deficiency. Neurology 1986, 36:1465-1470.
25. Amit R., Bashan N., Abarbanel J.M., et al. Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency. Muscle Nerve 1992, 15:455-458.
26. Lacson A., Haworth J., Seshia S.S., et al. Phosphofructokinase deficiency: a report of five cases. Can J Neurol Sci 1993, 20:80-81.
27. Spriggs E.L., Marles S.L., Lacson A., et al. Long-term survival and normal cognitive development in infantile phosphofructokinase-1 deficiency. Clin Genet 1999, 56:235-237.
28. Swoboda K.J., Specht L., Jones H.R., et al. Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet. J Pediatr 1997, 131:932-934.
29. Di Mauro S., Hays A.P., Tsujino S. Nonlysosomal glycogenoses. Myology 2004, vol. 2:1535-1558. McGraw Hill, New York.