Congenital form of glycogen storage disease type IV: A case report and a review of the literature

Pediatrics International

Volumn 46, Issue 4, 2004, Pages 474-477

  Maruyama, Keinchi ^b   Suzuki, Tomoko ^b   Koizumi, Takenobu ^b   Sugie, Hideo ^a   Fukuda, Tokiko ^a   Ito, Masataka ^a   Hirato, Junko ^c  

^a Hamamatsu City Med Ctr Devmtl M   (Japan)

^b Gunma Children's Medical Center   (Japan)

^c GUNMA UNIVERSITY   (Japan)

Author keywords

Glycogen storage disease type IV; Hydrops fetalis; Respiratory distress

Indexed keywords

INDOMETACIN; INOTROPIC AGENT;

ARTIFICIAL VENTILATION; BRADYCARDIA; CARDIOMEGALY; CASE REPORT; CHEMICAL ANALYSIS; CLINICAL FEATURE; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; GLYCOGEN STORAGE DISEASE TYPE 4; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; LABORATORY TEST; MALE; PATENT DUCTUS ARTERIOSUS; PLEURA EFFUSION; PRIORITY JOURNAL; RADIODIAGNOSIS; REVIEW; THORAX DRAINAGE;

FATAL OUTCOME; FEMALE; GLYCOGEN STORAGE DISEASE TYPE IV; HUMANS; INFANT; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; INFANT, PREMATURE; MALE; THROMBOSIS;

EID: 4344639876     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1442-200x.2004.01916.x     Document Type: Review

References (10)

1. van Noort G, Straks W, Van Diggelen OP, Hennekam RCM. Congenital variant of glycogenosis type IV. Pediatr. Pathol. 1993; 13: 685-98.
2. Schochet SS Jr, McCormick WF, Zellweger H. Type IV glycogenosis (amylopectinosis), Light and electron microscopic observations. Arch. Pathol. 1970; 90: 354-63.
3. Zellweger H, Mueller S, Ionasescu V, Schochet SS, McCormick WF. Glycogenosis type IV: A new cause of infantile hypotonia. J. Pediatr. 1972; 80: 842-4.
4. Shin YS, Steigueber H, Klemm P, Endres W, Schwab O, Wolff G. Branching enzyme in erythrocytes. Detection of type IV glycogenosis homozygotes and heterozygotes, J. Inher. Metab. Dis. 1988; 11: 252-4.
5. Benirschke K, Kaufmann P. Fetal storage disease. In: Pathology of the Human Placenta, 2nd edn. Springer-Verlag, New York, 1990; 460-3.
6. Tang TT, Segura AD, Chen YT et al. Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. Acta Neuropathol. 1994; 87: 531-6.
7. Di Rocco M, Doria-Lamba L, Marino C et al. Atypical congenital form of glycogen storage disease (GSD) type IV. J. Inher. Metab. Dis. 1998; 21 (Suppl. 2): 95.
8. Alegria A, Martins E, Dias M, Cunha A, Cardoso ML, Maire I. Gycogen storage disease type IV presenting as hydrops fetalis. J. Inher. Metab. Dis. 1999; 22: 330-2.
9. Cox PM, Brueton LA, Murphy KW et al. Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis. Am. J. Med. Genet. 1999; 86: 187-93.
10. Bao Y, Kishnani P, Wu JY, Chen YT. 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: 941-8.