Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient

Glycogen storage disease type IV (GSD IV, Andersen disease) is a rare autosomal recessive condition. The childhood neuromuscular subtype of GSD IV is characterised by a progressive skeletal myopathy with cardiomyopathy also reported in some individuals. We report a case of a 19-year-old man who presented with severe non-ischaemic dilated cardiomyopathy (NIDCM) necessitating heart transplantation, with biopsy showing aggregations of polyglucosan bodies in cardiac myocytes. He had no signs or symptoms of muscle weakness, liver dysfunction or neurologic involvement. A homozygous GBE1 c.607C>A (p.His203Asn) variant was identified. Our case is unusual in that our patient presented with an isolated NIDCM in the absence of other clinical manifestations of GSD IV. This case highlights the importance of considering storage disorders in young adults presenting with isolated NIDCM of unknown aetiology. It also emphasises the potential synergy between histopathological evaluation and genomic testing in enhancing diagnostic certainty.

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Liver Transplantation for Glycogen Storage Disease Type IV

Frontiers in Pediatrics ◽

10.3389/fped.2021.633822 ◽

2021 ◽

Vol 9 ◽

Author(s):

Min Liu ◽

Li-Ying Sun

Keyword(s):

Liver Transplantation ◽

Glycogen Storage Disease ◽

Storage Disease ◽

Therapeutic Option ◽

Clinical Manifestations ◽

Specific Treatment ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Type Iv

Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by glycogen–branching enzyme (GBE) deficiency, leading to accumulation of amylopectin–like glycogen that may damage affected tissues. The clinical manifestations of GSD IV are heterogeneous; one of which is the classic manifestation of progressive hepatic fibrosis. There is no specific treatment available for GSD IV. Currently, liver transplantation is an option. It is crucial to evaluate long–term outcomes of liver transplantation. We reviewed the published literature for GSD IV patients undergoing liver transplantation. To date, some successful liver transplantations have increased the quantity and quality of life in patients. Although the extrahepatic manifestations of GSD IV may still progress after transplantation, especially cardiomyopathy. Patients with cardiac involvement are candidates for cardiac transplantation. Liver transplantation remains the only effective therapeutic option for treatment of GSD IV. However, liver transplantation may not alter the extrahepatic progression of GSD IV. Patients should be carefully assessed before liver transplantation.

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Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular-type Glycogen Storage Disease Type IV

Pediatric and Developmental Pathology ◽

10.1177/1093526617707852 ◽

2017 ◽

Vol 21 (4) ◽

pp. 423-427 ◽

Cited By ~ 1

Author(s):

Weiming Yu ◽

Marie-Anne Brundler ◽

James R Wright

Keyword(s):

Glycogen Storage Disease ◽

Muscle Biopsy ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Extravillous Trophoblast ◽

Pathological Examination ◽

Polyglucosan Bodies ◽

Type Iv

The fatal infantile neuromuscular type is the most severe form of glycogen storage disease type IV (GSD IV). We report a case of a 22-day-old female neonate born at 34 weeks gestation with polyhyramnios, fetal hydrops, and severe hypotonia. Placental examination revealed numerous periodic acid schiff-positive diastase-resistant polyglucosan bodies in the cytoplasm of extravillous trophoblast predominantly in the placental basal plate. Muscle biopsy and autopsy findings supported a diagnosis of neuromuscular-type glycogen storage disease type IV with extensive involvement of skeletal muscle, heart, and liver. The diagnosis was confirmed by molecular genetic testing. We could only find 1 prior report in the English literature that describes placental pathological changes. Our findings suggest that placental examination can be a useful adjunct for early diagnosis, as placentas are often received for pathological examination shortly after birth and usually before a diagnostic muscle biopsy can be performed. Pathologists need to be aware of characteristic placental features.

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A novel neuromuscular form of glycogen storage disease type IV characterized by spinal stiffness, arthrogrypotic features, and rare polyglucosan bodies in muscle biopsy

Neuromuscular Disorders ◽

10.1016/j.nmd.2015.06.136 ◽

2015 ◽

Vol 25 ◽

pp. S221-S222

Author(s):

E. Malfatti ◽

C. Barnerias ◽

C. Hedberg-Oldfors ◽

C. Gitiaux ◽

V. Allamand ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Muscle Biopsy ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Polyglucosan Bodies ◽

Type Iv ◽

Spinal Stiffness

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A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle

Neuromuscular Disorders ◽

10.1016/j.nmd.2016.07.005 ◽

2016 ◽

Vol 26 (10) ◽

pp. 681-687 ◽

Cited By ~ 5

Author(s):

Edoardo Malfatti ◽

Christine Barnerias ◽

Carola Hedberg-Oldfors ◽

Cyril Gitiaux ◽

Audrey Benezit ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Polyglucosan Bodies ◽

Type Iv ◽

Spinal Stiffness

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Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy

Pediatric and Developmental Pathology ◽

10.1177/1093526619890224 ◽

2019 ◽

Vol 23 (4) ◽

pp. 301-305

Author(s):

Daniel C Butler ◽

W Bailey Glen ◽

Cynthia Schandl ◽

Angelina Phillips

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Periodic Acid ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Unknown Etiology ◽

Chromosomal Microarray Analysis ◽

Fetal Autopsy ◽

Type Iv

Glycogen storage disease type IV (GSD IV; Andersen's disease) is a rare autosomal recessive disorder that results from defects in the GBE1 gene (3p12.2) and subsequent deficiencies of glycogen branching. We report a case of GSD IV diagnosed at autopsy in a 35 4/7 weeks gestational age female neonate that died shortly after birth. Multisystem blue, ground glass inclusions initially presumed artefactual were periodic acid-Schiff positive, diastase resistant. Chromosomal microarray analysis identified a deletion of exons 2 through 16 of the GBE1 gene and whole exome sequencing identified a nonsense mutation within exon 14, confirming the diagnosis of GSD IV. A strong index of suspicion was required determine GSD IV as the ultimate cause of death, illustrating the need for critical evaluation of postmortem artifact in the setting of fetal demise of unknown etiology and highlighting the role of postmortem molecular diagnostics in a subset of cases.

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