scholarly journals Infantile Pompe disease treatment with Myozyme in Chaharmahal and Bakhtiari: A case report

2019 ◽  
Vol 21 (3) ◽  
pp. 149-152
Author(s):  
Nabiollah Asadpour ◽  
Najmeh Bagheri-Kakolaki
Keyword(s):  
Case Report ◽  
Respiratory Distress ◽  
Pompe Disease ◽  
Systolic Dysfunction ◽  
Failure To Thrive ◽  
Glycogen Storage ◽  
Lysosomal Storage ◽  
Feeding Difficulties ◽  
Enzyme Replacement ◽  
Infantile Pompe Disease

Pompe disease is a lysosomal storage disorder that results from an inborn error of metabolism which involves abnormal glycogen storage. Infantile-onset Pompe disease is the most severe phenotype that manifests with the findings of hypotonia, generalized muscle weakness, feeding difficulties, a failure to thrive, hearing loss, hypertrophic cardiomyopathy with systolic dysfunction, and respiratory distress. There is no effective treatment for Pompe disease and clinical control includes primary support health care. However, recent studies have reported that enzyme replacement therapy (ERT) can effectively decrease the symptoms or severity of the disease. The present study is a case report of a 24-day patient with infantile-onset Pompe disease who presented coughing and respiratory distress. The infant experienced fatigue during breastfeeding from the birth and developed dry and nonproductive coughs and perioral cyanosis from two weeks after the birth. The echocardiogram demonstrated left and right ventricular enlargement, mitral and tricuspid regurgitation, and pulmonary hypertension. After definitive diagnosis, the patient was administered with 20 mg/kg of alglucosidase 50 mg vial once every two weeks. He experienced significant improvement in body weight and echocardiogram and symptoms such as fatigue during breastfeeding and perioral cyanosis disappeared completely while he was under Myozyme treatment. In general, the observations confirmed the efficacy of Myozyme in a patient with infantile Pompe disease. Therefore, early diagnosis and quick treatment of Pompe disease with Myozyme can lead to acceptable outcomes, improve conditions, and finally, increase the chance of survival in these patients.

scholarly journals Pompe Disease: New Developments in an Old Lysosomal Storage Disorder

Biomolecules ◽  
2020 ◽  
Vol 10 (9) ◽  
pp. 1339
Author(s):  
Naresh K. Meena ◽  
Nina Raben
Keyword(s):  
Pompe Disease ◽  
Specific Treatment ◽  
Lysosomal Storage Diseases ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Monogenic Diseases ◽  
Progressive Accumulation ◽  
Alpha Glucosidase

Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac and skeletal muscle myopathy due to progressive accumulation of glycogen. The discovery that acid alpha-glucosidase resides in the lysosome gave rise to the concept of lysosomal storage diseases, and Pompe disease became the first among many monogenic diseases caused by loss of lysosomal enzyme activities. The only disease-specific treatment available for Pompe disease patients is enzyme replacement therapy (ERT) which aims to halt the natural course of the illness. Both the success and limitations of ERT provided novel insights in the pathophysiology of the disease and motivated the scientific community to develop the next generation of therapies that have already progressed to the clinic.

scholarly journals Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience

Children ◽  
2021 ◽  
Vol 8 (11) ◽  
pp. 1026
Author(s):  
Javier de las Heras ◽  
Ainara Cano ◽  
Ana Vinuesa ◽  
Marta Montes ◽  
María Unceta Suarez ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Early Treatment ◽  
Pompe Disease ◽  
Treatment Initiation ◽  
Specific Treatment ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Single Centre Experience ◽  
Alglucosidase Alfa ◽  
Infantile Pompe Disease

Classic infantile Pompe disease (IPD) is a rare lysosomal storage disorder characterized by severe hypertrophic cardiomyopathy and profound muscle weakness. Without treatment, death occurs within the first 2 years of life. Although enzyme replacement therapy (ERT) with alglucosidase alfa has improved survival, treatment outcome is not good in many cases and is largely dependent on age at initiation. The objective of the study was (a) to analyse the different stages in the diagnosis and specific treatment initiation procedure in IPD patients, and (b) to compare clinical and biochemical outcomes depending on age at ERT initiation (<1 month of age vs. <3 months of age). Here, we show satisfactory clinical and biochemical outcomes in two IPD patients after early treatment initiation before 3 months of life with immunomodulatory therapy in the ERT-naïve setting, with a high ERT dose from the beginning. Despite the overall good evolution, the patient who initiated treatment <1 month of life presented even better outcomes than the patient who started treatment <3 months of life, with an earlier normalization of hypertrophic cardiomyopathy, along with CK normalization, highlighting the importance of early treatment initiation in this progressive disease before irreversible muscle damage has occurred.

Providing the conduit for treatment: The impact of vascular access and vein preservation in a 5-year-old child with prenatally diagnosed CRIM-negative Infantile Pompe disease

2021 ◽  
pp. 112972982199948
Author(s):  
Matthew Ostroff ◽  
Punita Gupta ◽  
Daniel Garcia
Keyword(s):  
Vascular Access ◽  
Pompe Disease ◽  
Disease Patient ◽  
Tolerance Induction ◽  
Glycogen Storage ◽  
Glycogen Accumulation ◽  
Enzyme Replacement ◽  
Infantile Pompe Disease ◽  
Glycogen Storage Disorder ◽  
The Impact

Pompe disease is an autosomal recessive glycogen storage disorder resulting in progressive glycogen accumulation expressed in infancy with cardiomyopathy and skeletal myopathy. Without treatment by enzyme replacement therapy (ERT), life expectancy is less than 2 years. The cross-reactive immunologic material (CRIM) positive or negative status is the basis for the response to ERT. CRIM-negative patients mount an immune response to ERT, making this the most dangerous presentation. The following case study describes the 5-year course of the first successful treatment of an in utero CRIM-negative Pompe disease patient with prophylactic immune tolerance induction (ITI) and administration of ERT given within the first 2 days of life followed by ultrasound guided vascular access that facilitated by bi-weekly infusions and extensive phlebotomy.

scholarly journals Acute respiratory failure as presentation of late-onset Pompe disease complicating the diagnostic process as a labyrinth: a case report

2018 ◽  
Vol 13 ◽  
Author(s):  
Francesco Menzella ◽  
Luca Codeluppi ◽  
Mirco Lusuardi ◽  
Carla Galeone ◽  
Franco Valzania ◽  
...  
Keyword(s):  
Case Report ◽  
Respiratory Failure ◽  
Acute Respiratory Failure ◽  
Pompe Disease ◽  
Late Onset ◽  
Correct Diagnosis ◽  
Ventilatory Support ◽  
Diagnostic Process ◽  
Caucasian Woman ◽  
Enzyme Replacement

Background: Acute respiratory failure can be triggered by several causes, either of pulmonary or extra-pulmonary origin. Pompe disease, or type II glycogen storage disease, is a serious and often fatal disorder, due to a pathological accumulation of glycogen caused by a defective activiy of acid α-glucosidase (acid maltase), a lysosomal enzyme involved in glycogen degradation. The prevalence of the disease is estimated between 1 in 40,000 to 1 in 300,000 subjects. Case presentation: This case report describes a difficult diagnosis of late-onset Pompe disease (LOPD) in a 52 year old Caucasian woman with acute respiratory failure requiring orotracheal intubation and subsequent tracheostomy for long-term mechanical ventilation 24 h/day. Despite a complex diagnostic process including several blood tests, bronchoscopy with BAL, chest CT, brain NMR, electromyographies, only a muscle biopsy allowed to reach the correct diagnosis. Discussion: The most frequent presentation of myopathies, including LOPD, is proximal limb muscle weakness. Respiratory related symptoms (dyspnea on effort, reduced physical capacity, recurrent infections, etc.) and respiratory failure are often evident in the later stages of the diseases, but they have been rarely described as the onset symptoms in LOPD. In our case, a third stage LOPD, the cooperation between pulmonologists and neurologists was crucial in reaching a correct diagnosis despite a very complex clinical scenario due to different confounding co-morbidities as potential causes of respiratory failure and an atypical presentation. In this patient, enzyme replacement therapy with infusion of alglucosidase alfa was associated with progressive reduction of ventilatory support to night hours, and recovery of autonomous walking.

scholarly journals Pulmonary outcome measures in long‐term survivors of infantile Pompe disease on enzyme replacement therapy: A case series

2020 ◽  
Vol 55 (3) ◽  
pp. 674-681
Author(s):  
Mai K. ElMallah ◽  
Ankit K. Desai ◽  
Erica B. Nading ◽  
Stephanie DeArmey ◽  
Richard M. Kravitz ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Outcome Measures ◽  
Pompe Disease ◽  
Case Series ◽  
Enzyme Replacement ◽  
Infantile Pompe Disease ◽  
Long Term Survivors

scholarly journals Vallecular cyst in an infant with stridor: a case report

2018 ◽  
Vol 6 (1) ◽  
pp. 58-62
Author(s):  
Nabin Lageju ◽  
Rajendra Prasad Sharma Guragain
Keyword(s):  
Case Report ◽  
Ct Scan ◽  
Cystic Lesion ◽  
Failure To Thrive ◽  
Surgical Excision ◽  
Infants And Children ◽  
Solid Component ◽  
Feeding Difficulties ◽  
The Right ◽  
In Infants And Children

Background and Objectives: Vallecular cysts are rare and generally asymptomatic. In infants and children they present with stridor, feeding difficulties, failure to thrive. Treatment is surgical excision with cautery or laser.Presentation of Case: We discuss the clinical, radiological presentation of a 7 months old child with vallecular cyst which was surgically treated with deroofing and marsupialisation with elecrocautery. There was no recurrence even up 2 years of follow-up.Discussion: Flexible nasopharyngolaryngoscopic examination was done which showed present of swelling in the left vallecula pushing the epiglottis posteriorly and to the right with narrowed normal endolarynx. Radiological investigations with CT scan showed cystic lesion noted in left side of neck with no septation and solid component. The lesion was extending to ipsilateral vallecula and paraglottic region with narrowing of endolarynx.Conclusion: Vallecular cyst is rare cause of noisy breathing in infants and children. In adults it is usually asymptomatic. Treatment of choice is marsupialization with electrocautery or laser.

Pompe Disease

2016 ◽  
Author(s):  
Ans T. van der Ploeg ◽  
Pascal Laforêt
Keyword(s):  
Pompe Disease ◽  
Late Onset ◽  
Data Gathering ◽  
Autosomal Recessive Disorder ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Walking Distance ◽  
Patient Registries ◽  
Enzyme Replacement ◽  
Progressive Muscle Weakness

Pompe disease, also named acid maltase deficiency and glycogen storage disease type II (GSDII), is a rare autosomal recessive disorder caused by the deficiency of the glycogen-degrading lysosomal enzyme acid α‎-glucosidase. The clinical spectrum of this disease is broad, varying from a lethal infantile-onset generalized myopathy including cardiomyopathy, to late-onset slowly progressive muscle weakness mimicking limb-girdle muscular dystrophy. Respiratory insufficiency is a frequent complication and the main cause of death. The prognosis of Pompe disease has changed considerably with the use of enzyme replacement therapy using recombinant acid α‎-glucosidase (alglucosidase alfa), which has been widely available since 2006. Improvements in survival and major motor achievements can be observed in patients with infantile forms, and recent studies demonstrate improvement of walking distance and stabilization of pulmonary function in late-onset forms. A longer-term study of the safety and efficacy of ERT, based on data gathering across the complete spectrum of Pompe disease via national or international patient registries, is needed in order to formulate more precise guidelines for treatment.

scholarly journals Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease

2019 ◽  
Vol 2019 ◽  
pp. 1-3
Author(s):  
Allison M. Jay ◽  
Premchand Anne ◽  
David Stockton
Keyword(s):  
Newborn Screening ◽  
Pompe Disease ◽  
Autosomal Recessive ◽  
Genetic Test ◽  
Carrier Screening ◽  
Lysosomal Storage ◽  
Cardiac Murmur ◽  
Enzyme Replacement ◽  
Prenatal Test ◽  
Infantile Type

Introduction. Pompe disease is an autosomal recessive lysosomal storage disorder with marked morbidity and mortality, if untreated. With the advent of enzyme replacement therapy, it is essential to identify the infantile-type as early as possible to mitigate the effects of the enzyme deficiency. Identification is possible prenatally with testing of both parents. More recently, many states have instituted newborn screening for this condition. Case. We report a patient with infantile-onset Pompe disease with a normal paternal carrier genetic test, born prior to newborn screening for Pompe disease in the state of Michigan. The infant’s father was retested once the infant was diagnosed with Pompe disease postnatally and noted to have a mutation conducive to Pompe disease. Conclusion. Providers should have a strong clinical suspicion for disorders even if prenatal parental carrier screening is normal. A normal parental prenatal test does not exclude the possibility that the fetus may be diagnosed with a disorder postnatally, and pediatricians may be faced with limitations in accuracy of parents’ recollection of parental testing results.

scholarly journals Orthopedic Management of Patients with Pompe Disease: A Retrospective Case Series of 8 Patients

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Gerrit Haaker ◽  
Jürgen Forst ◽  
Raimund Forst ◽  
Albert Fujak
Keyword(s):  
Surgical Treatment ◽  
Pompe Disease ◽  
Neuromuscular Disorders ◽  
Young Patients ◽  
Case Series ◽  
Deformity Correction ◽  
Lysosomal Storage ◽  
Retrospective Case ◽  
Enzyme Replacement ◽  
Spine Stabilization

Introduction.Pompe disease (PD), a lysosomal storage disease as well as a neuromuscular disorder, is a rare disease marked by progressive muscle weakness. Enzyme replacement therapy (ERT) in recent years allowed longer survival but brought new problems to the treatment of PD with increasing affection of the musculoskeletal system, particularly with a significantly higher prevalence of scoliosis. The present paper deals with the orthopedic problems in patients with PD and is the first to describe surgical treatment of scoliosis in PD patients.Patients and Methods.The orthopedic problems and treatment of eight patients with PD from orthopedic consultation for neuromuscular disorders are retrospectively presented. We analyzed the problems of scoliosis, hip dysplasia, feet deformities, and contractures and presented the orthopedic treatment options.Results.Six of our eight PD patients had scoliosis and two young patients were treated by operative spine stabilization with benefits for posture and sitting ability. Hip joint surgery, operative contracture release, and feet deformity correction were performed with benefits for independent activity.Conclusion.Orthopedic management gains importance due to extended survival and musculoskeletal involvement under ERT. Surgical treatment is indicated in distinct cases. Further investigation is required to evidence the effect of surgical spine stabilization in PD.

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