glycogen storage disease/opuch

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[Insulin edema in hepatic glycogenosis].

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BACKGROUND Hepatic glycogenosis is a rare syndrome, which includes poorly controlled diabetes mellitus, hepatomegaly, delayed puberty, and growth delay. Insulin edema is sometimes associated. METHODS An 18-year-old woman presented with diffuse edema, hepatomegaly, amenorrhea, uncontrolled diabetes,

Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis.

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We report on 3 consecutive sib fetuses, presenting at 13, 12, and 13 weeks of gestation, respectively, with fetal hydrops, limb contractures, and akinesia. Autopsy of the first fetus showed subcutaneous fluid collections and severe degeneration of skeletal muscle. Histologic studies demonstrated

Fatal infantile cardiac glycogenosis without acid maltase deficiency presenting as congenital hydrops.

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Glycogen storage disease type IV presenting as hydrops fetalis.

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Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome.

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We describe an infant prenatally diagnosed with hydrops fetalis ultimately found to have Noonan syndrome (NS). Prior to genetic confirmation of diagnosis, lung biopsy was performed which revealed widespread pulmonary interstitial glycogenosis (PIG), abnormal alveolarization, and mild inflammation.

Type 1 glycogenosis with contracted kidneys and liver cell adenoma.

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A 22-year-old man with type 1 glycogenosis died of renal and respiratory failure. Postmortem examination revealed deposition of glycogen in liver cells, a liver cell adenoma, bilateral contracted kidneys with scent glycogen deposition, and pulmonary edema. The development of liver cell adenoma was

Nonimmune hydrops fetalis in the liveborn: series of 32 autopsies.

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Nonimmune hydrops fetalis (NIHF) or generalized soft tissue edema and cavity effusions may be due to cardiovascular diseases, congenital infections, genitourinary malformations, thoracic masses, placental conditions, chromosomal abnormalities, and idiopathic. We report 32 cases of NIHF from among

Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV.

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Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficiency in glycogen-branching enzyme (GBE1) activity that results in the accumulation of amylopectin-like polysaccharide, which presumably leads to osmotic swelling and cell death. This disease is extremely

A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.

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Glycogen storage disease type IV (Andersen disease) is a rare metabolic disorder characterized by deficient glycogen branching enzyme activity resulting in abnormal, amylopectin-like glycogen deposition in multiple organs. This article reports on an infant with the congenital neuromuscular subtype

Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings.

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Glycogenosis type IV is an autosomal recessive disease, exceptionally diagnosed at birth: only very few reports of the fatal perinatal neuromuscular form have been described. We report on two sibling male newborns who died at 10 and 4 weeks of age with clinical signs of a systemic storage disease.

Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease.

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Glycogen storage diseases (GSDs) comprise a large, heterogeneous group of disorders characterized by abnormal glycogen deposition. Multiple cases in the literature have demonstrated an association between GSD type I and pulmonary arterial hypertension (PAH). We now also report on two patients with

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

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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

[The fructose induced "glycogenosis". I. Ultrastructural and morphometric analysis of rat hepatocytes 7 days after fructose overload (author's transl)].

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BACKGROUND Infusion of fructose has been shown to stimulate the SER and to reduce the RER in rat liver cells. After feeding fructose of 7 days a glycogenosis of unknown pathogenesis occurs, which was analysed morphometrically. METHODS 60% fructose in water, was given as drinking water to animals

The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies.

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Glycogen storage disease type IV (GSD-IV), also known as Andersen disease or amylopectinosis (MIM 23250), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme (GBE) leading to the accumulation of amylopectin-like structures in affected tissues. The disease is

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.

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We report on a family of three consecutive fetuses affected by type IV glycogen storage disease (GSD IV). In all cases, cervical cystic hygroma was observed on the 12-week-ultrasound examination. During the second trimester, fetal hydrops developed in the first pregnancy whereas fetal akinesia

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