Hypertransaminasemia and fatal lung disease: a case report (original) (raw)
Related papers
[Pompe disease or type 2 glycogenosis]
PubMed, 1999
We report the case of a rapidly progressing respiratory failure of a three-month old infant, who shows a cardiomyopathy with left ventricule hypertrophy leading to a Pompe's disease diagnosis. This type 2 glycogenosis will be confirmed by the enzymatic study of the hepatocytes. It is a genetic pathology associated with a deficient activity of the acid maltase resulting in a intralysosomial accumulation of glycogen. The most generally responsible mutations are: delta 18 et delta 525. Prognosis is quite bad with a progressive deterioration of the heart, brain and muscular functions causing death at around 4 to 8 months. Type 2 glycogenosis may be diagnosed before birth through enzymatic study of a material collected through an amniocentesis or a biopsy on chorionic villi, and through DNA analysis. Curative treatment is still under study, but two main research orientations are being developed: genic therapy using viral vector and the correction of the enzymatic deficiency thanks to the synthesis of alpha glucosidase modified to specially get affixed to the heart and muscular cells. Both techniques have already show some encouraging results even though the clinical applications are not presently valid yet.
Journal of Inherited Metabolic Disease, 2000
Glycogenosis type II (GSD II) is a lysosomal storage disorder due to acid a-glucosidase de¢ciency. We report the results of a clinical multidisciplinary approach in two cases of nonclassical infantile GSD II. The patients received a high-protein diet by percutaneous enteral gastrostomy (PEG), mechanical ventilatory support by tracheostomy and a physiotherapy programme. After 12 months of treatment, the patients showed signi¢cant improvement in muscular strength, nutritional state and respiratory function. Electrocardiography (ECG) and echocardiography improved in both patients. They maintained good clinical conditions for a period of 18 and 20 months, respectively; thereafter they presented with an elevated and persistent fever that was not correlated to a septic status and was not responsive to any antipyretic treatment. They deteriorated progressively and died. This study shows how a multidisciplinary approach may be useful to improve, even if temporarily, the clinical course of nonclassical infantile GSD II.
Journal of Inherited Metabolic Disease, 2000
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. Prenatal history included polyhydramnios, reduced fetal movements and fetal hydrops, and Caesarean section was performed at 36 weeks of gestational age because of fetal distress. At birth, both babies showed severe hypotonia, hyporeflexia and no spontaneous breathing activity. They never showed active movements, sucking and swallowing and were respirator-dependent until death. A muscle biopsy revealed, in both patients, the presence of PAS-positive and partially diastase-resistant cytoplasmic inclusions containing granular and filamentous amylopectin-like material. This suggested that the stored material consisted of abnormal glycogen. At autopsy, ultrastructural examination of cardiac and skeletal muscle, liver, kidney and brain showed PAS-positive diastase-resistant eosinophilic cytoplasmic inclusions. Determination of branching enzyme activity, in cultured fibroblasts from the second patient, showed markedly reduced enzyme activity, confirming diagnosis of glycogenosis type IV. Our patients showed the full spectrum of both prenatal signs (hydrops, polyhydramnios) and postnatal signs (hypotonia, hyporeflexia, absence of active movements, cardiomegaly), which have been reported previously. They suffered from a very severe form of glycogenosis type IV with clinical and histological involvement of many tissues and organs. Diagnosis was accomplished on the second baby and required several biochemical and histological studies, in order to rule out both neuromuscular
Journal of Child Science
Pulmonary interstitial glycogenosis (PIG) is a disease of unknown etiology. It is part of the interstitial lung diseases, corresponding to the compartment of the fetal pulmonary interstitium. It typically presents within the first week of life as refractory respiratory distress with tachypnea and persistent hypoxemia, and it is not associated with glycogen deposition in other organs. Usually, there is a clinical improvement and good prognosis after steroid therapy unless there are associated conditions such as congenital heart disease, pulmonary hypertension, or genetic disorders. We report a case diagnosed by lung biopsy at 4 months of age in a male preterm born, small for gestational age infant, who developed refractory hypoxemia and pulmonary hypertension with fatal outcome. There was no response to steroids and hydroxychloroquine. He was not candidate for extracorporeal membrane oxygenation. PIG should be considered in the differential diagnosis of persistent respiratory distres...
A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy
Iranian Journal of Medical Sciences, 2018
Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypotonia. Mutations in the acid alpha-glucosidase (GAA) gene, located at locus 17q25.3, are responsible for the disease leading to reduced activity of the acid alpha-glucosidase enzyme. To date, approximately 400 pathogenic mutations have been reported in the GAA gene. The aim of this study is to report a novel nonsense mutation in exon 4 of the GAA gene in an Iranian child suffering from IOPD. The patient was a female neonate with hypertrophic cardiomyopathy and a positive family history of IOPD. After definite diagnosis, enzyme-replacement therapy (ERT) was started for the patient, who was 2 month...
Critical Airway Stenosis in an Adolescent Male With Pompe Disease and Thoracic Lordosis
A & A case reports, 2017
P ompe disease, or glycogen storage disease type II, is a rare autosomal recessive condition caused by a deficiency of acid α-glucosidase that results in the accumulation of glycogen in lysosomes. Patients with this disorder, which can present in infancy or later in childhood, typically have progressive muscle weakness, respiratory insufficiency, and hypertrophic cardiomyopathy. 1 Presented here is a patient with late-onset Pompe disease (LOPD) with undiagnosed critical tracheal stenosis, which resulted in 2 critical airway events, the first during a liver biopsy and the second during a posterior spinal fusion (PSF). Written consent was obtained from the patient's parent/guardian for the publication of this report.
BMJ Case Reports, 2022
Pompe disease is an autosomal-recessive inherited disorder of glycogen metabolism due to lysosomal acid alpha-glucosidase deficiency. The infantile-onset form is rapidly fatal if left untreated and presents with respiratory symptoms, a typical encounter during infancy. We discuss two infants presenting with respiratory symptoms since early infancy and found to have cardiomegaly, hypotonia, elevated muscle enzymes, leading to the diagnosis of Pompe disease with genetic confirmation. However, both infants expired before the enzyme replacement therapy due to complications of irreversible muscle damage despite supportive medical care. Presentation with respiratory symptoms common during childhood, absence of alarming symptoms such as hypoglycaemia, ketoacidosis or encephalopathy, and relative rarity of Pompe disease can contribute to lapses in the early diagnosis as observed in the index patients. Thus, these cases emphasise the importance of vigilant assessment of common paediatric pre...
Infantile-onset Pompe disease with neonatal debut: A case report and literature review
Medicine, 2017
Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes have been achieved with early treatment. We report a case of a newborn with infantile-onset Pompe disease diagnosed in the first days of life who did not undergo universal neonatal screening. The patient was asymptomatic, with a general physical examination revealing only a murmur. The clinical presentation was dominated by the neonatal detection of hypertrophic cardiomyopathy, without hypotonia or macroglossia. Pompe disease was confirmed in the first week of life by GAA activity in dried blood spots, and a GAA genetic study showed the homozygous mutation p.Arg854X. Parents initially refused replacement therapy. The patient experienced recurrent episodes of ventricular fibrillation during central line placement and could not be...
Neuromuscular Disorders, 2002
Glycogen storage disease type II is an autosomal recessive muscle disorder due to deficiency of lysosomal acid a-glucosidase and the resulting intralysosomal accumulation of glycogen. We found six novel mutations in three Spanish classic infantile onset glycogen storage disease type II patients with involvement of both cardiac and skeletal muscle; three missense mutations (G219R, E262K, M408V), a nonsense mutation (Y191X), a donor splice site mutation (IVS18 12gt. ga) and an in frame deletion of an asparagine residue (nt1408-1410). The missense mutations were not found in 100 normal chromosomes and therefore are not normal polymorphic variants. The splice site mutation was subsequently detected in an additional 'Spanish' infantile onset glycogen storage disease type II patient from El Salvador. Further studies will be required to determine if the IVS18 12gt. ga splice site mutation might in fact be a relatively common Spanish mutation. Mutations among Spanish glycogen storage disease type II patients appear to be genetically heterogeneous and differ from common mutations in neighboring countries.
Case Reports in Neurological Medicine, 2014
Pompe’s disease (acid maltase deficiency, glycogen storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acidα-1,4-glucosidase, resulting in excessive accumulation of glycogen in the lysosomes and cytoplasm of all tissues, most notably in skeletal muscles. We present a case of adult-onset Pompe’s disease with progressive proximal muscles weakness over 5 years and respiratory failure on admission, requiring prolonged mechanical ventilation. Electromyography showed evidence of myopathic process with small amplitudes, polyphasic motor unit action potentials, and presence of pseudomyotonic discharges. Muscle biopsy showed glycogen-containing vacuoles in the muscle fibers consistent with glycogen storage disease. Genetic analysis revealed two compound heterozygous mutations at c.444C>G (p.Tyr148*) in exon 2 and c.2238G>C (p.Trp746Cys) in exon 16, with the former being a novel mutation. This mutation has not been reported before, to our know...