Abstract
A total of 11 types of glycogen storage disorders have been recognized with variable clinical presentations. Type IV, also known as Andersen disease, represents a rare subtype that can induce severe clinical findings early in life. We report on a patient with early fetal onset of symptoms with severe neuromuscular findings at birth. The pregnancy was further complicated by polyhydramnios and depressed fetal movement. At birth severe hypotonia was noticed requiring active resuscitation and then mechanical ventilation. His lack of expected course for hypoxic ischemic encephalopathy prompted genetic testing, including a muscle biopsy, which confirmed the diagnosis of glycogen storage disease IV (GSD IV). Mutation analysis of the glycogen branching enzyme 1 gene demonstrated a previously unrecognized mutation. We review recent information on early presentation of GSD IV with particular interest in the presentation of the neonatal lethal neuromuscular form of this rare disorder.
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References
Akman HO, Karadimas C, Gyftodimou Y, Grigoriadou M, Kokotas H, Konstantinidou A et al. Prenatal diagnosis of glycogen storage disorder type IV. Prenat Diagn 2006; 26: 951–955.
Willot S, Marchand V, Rasquin A, Alvarez F, Martin SR . Systemic progression of type IV glycogen storage disease after liver transplantation. J Pediatr Gastroenterol Nutr 2010; 51: 661–664.
Moses SW, Pavari R . The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr Mol Med 2002; 2: 177–188.
Asserto A, van Diggelen OP, Diogo L, Morava E, Cassandrini D, Carreira I et al. Null mutations and lethal congenital form of glycogen storage disease type IV. BBRC 2007; 361: 445–450.
L’hermine-Coulomb A, Beuzen F, Bouvier R, Rolland MO, Froissart R, Menez F 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.
Konstantinidou AE, Anninos H, Gyftodimou Y, Petersen MB, Karadimas C, Fotopoulos S et al. Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis. Histopathology 2006; 48: 869–886.
Janecke AR, Dertinger S, Ketelsen UP, Bereuter L, Simma B, Müller T et al. Neonatal type IV glycogen storage disease associated with “null” mutations in glycogen branching enzyme 1. J Pediatr 2004; 145: 705–709.
Van Noort G, Straks W, Van Diggelen OP, Hennekam RCM . A congenital variant of glycogenesis type IV. Padiatr Path 1993; 13: 685–698.
Giuffre B, Parini R, Rizzuti T, Morandi L, van Diggelen OP, Bruno C et al. Severe neonatal onset of glycogenesis type IV: clinical and laboratory findings leading to diagnosis in two siblings. J Inherit Metab Disord 2004; 27: 609–619.
Maruyama K, Suzuki T, Koizumi T, Sugie H, Fukuda T, Ito M et al. Congenital form of glycogen storage disease type IV: a case report and a review of the literature. Pediatr Int 2004; 46: 474–477.
Tang TT, Segura AD, Chen YT, Ricci LM, Franciosi RA, Splaingard ML et al. Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. Acta Neuropathol 1994; 87: 531–536.
Nambu M, Kawabe K, Fukuda T, Okuno TB, Ohta S, Nonaka I et al. A neonatal form of glycogen storage disease type IV. Neurology 2003; 61: 392–394.
Zellweger H, Mueller S, Ionasescu V, Schochet SS, McCormick WF . Glycogenosis IV: a new cause of infantile hypotonia. J Pediatr 1972; 80: 5.
Alegria A, Martins E, Dias M, Cunha A, Cardoso ML, Maire I . Glycogen storage disease type IV presenting as hydrops fetalis. J Inher Metab Disord 1999; 22: 330–332.
Cox PM, Brueton LA, Murphy KW, Worthington VC, Bjelogrlic P, Lazda EJ 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: 187–193.
Nolte KW, Janecke AR, Vorgerd M, Weis J, Schroder JM . Congenital type IV glycogenosis: the spectrum of pleiomorphic polyglucosan bodies in muscle, nerve and spinal cord with two novel mutations in the GBE1 gene. Acta Neuropathol 2008; 116: 491–506.
Raju GP, Li HC, Bali DS, Chen YT, Urion DK, Lidov HG et al. A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. J Child Neurol 2008; 23: 349–352.
Tay SKH, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP et al. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord 2004; 14: 253–260.
Konstantinidou AS, Anninos H, Dertinger S, Nonni A, Petersen M, Karadimas C et al. Placental involvement in glycogen storage disease type IV. Placenta 2008; 29: 378–381.
Shin YS, Steiguber H, Klemm P, Endres W, Schwab O, Wolff G . Branching enzyme in erythrocytyes. Detection of type IV glycogenosis homozygotes and heterozygotes. J Inher Metab Disord 1988; 11 (Suppl 2): 252–254.
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We would like to thank Dr David Weaver for reviewing this manuscript and for his excellent advice.
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Escobar, L., Wagner, S., Tucker, M. et al. Neonatal presentation of lethal neuromuscular glycogen storage disease type IV. J Perinatol 32, 810–813 (2012). https://doi.org/10.1038/jp.2011.178
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DOI: https://doi.org/10.1038/jp.2011.178