Sleep disordered breathing in childhood-onset acid maltase deficiency
Male; Child; Humans; Adolescent; Female; Retrospective Studies; Polysomnography; Positive-Pressure Respiration; Respiratory Function Tests; Muscle Weakness; Blood Gas Analysis; Quality of Life; Respiration; Glycogen Storage Disease Type II/pp [Physiopathology]; Sleep Apnea Syndromes/pp [Physiopathology]; Sleep Apnea Syndromes/th [Therapy]; Muscle Strength; Respiration Disorders/pp [Physiopathology]; Respiration Disorders/th [Therapy]; Sleep/ph [Physiology]; breathing difficulties; glycogen storage disease type II; physical intervention; non-invasive positive pressure ventilation; sleep apnea
OBJECTIVES: To clarify the feature of sleep disordered breathing (SDB) associated with childhood-onset acid maltase deficiency (AMD): the progressive nature of SDB and the stage of AMD.;STUDY DESIGN: We retrospectively studied 4 patients with childhood-onset AMD by analyzing the results of neurological examinations for muscle wasting and muscle strength and the data on venous gas and from a pulmonary function test and nocturnal polysomnography (PSG).;RESULTS: Three out of the 4 patients showed muscular symptoms including myalgia, lordoscoliosis, muscle wasting and muscle weakness. They also complained of sleep-related symptoms such as tiredness in the morning and daytime sleepiness. All of them showed SDB by PSG, even in a patient in the earliest stage who exhibited no signs or symptoms of muscle weakness. In 3 patients, noninvasive intermittent positive pressure ventilation during sleep was introduced; and thereafter sleep-related symptoms were resolved and no lower respiratory infection reoccurred. Although their quality of life was improved, no improvement of respiratory function was shown by spirometry over a 2-year follow-up period.;CONCLUSIONS: SDB seems to be common in childhood-onset AMD, which is not always accompanied by daytime muscular symptoms, especially in mild patients. PSG should be utilized for detecting SDB, which could be one of the earliest signs of respiratory muscle involvement in childhood-onset AMD.
Nabatame S; Taniike M; Sakai N; Kato-Nishimura K; Mohri I; Kagitani-Shimono K; Okinaga T; Tachibana N; Ozono K
Brain and Development
2009
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1016/j.braindev.2008.03.007" target="_blank" rel="noreferrer noopener">10.1016/j.braindev.2008.03.007</a>
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature
Humans; infant; Disease Progression; Mutation; Survival Analysis; Child Development; infant; Premature; AIM; IM; Blood Chemical Analysis; alpha-Glucosidases/ge [Genetics]; alpha-Glucosidases/me [Metabolism]; Brain/pa [Pathology]; Cardiomegaly/di [Diagnosis]; Cardiomegaly/et [Etiology]; Glycogen Storage Disease Type II/co [Complications]; Glycogen Storage Disease Type II/mo [Mortality]; Glycogen Storage Disease Type II/pp [Physiopathology]; Netherlands/ep [Epidemiology]; Newborn/gd [Growth & Development]
OBJECTIVE: Infantile Pompe's disease is a lethal cardiac and muscular disorder. Current developments toward enzyme replacement therapy are promising. The aim of our study is to delineate the natural course of the disease to verify endpoints of clinical studies. METHODS: A total of 20 infantile patients diagnosed by the collaborative Dutch centers and 133 cases reported in literature were included in the study. Information on clinical history, physical examination, and diagnostic parameters was collected. RESULTS: The course of Pompe's disease is essentially the same in the Dutch and the general patient population. Symptoms start at a median age of 1.6 months in both groups. The median age of death is 7.7 and 6 months, respectively. Five percent of the Dutch patients and 8% of all reported patients survive beyond 1 year of age. Only 2 patients from literature became older than 18 months. A progressive cardiac hypertrophy is characteristic for infantile Pompe's disease. The diastolic thickness of the left ventricular posterior wall and cardiac weight at autopsy increase significantly with age. Motor development is severely delayed and major developmental milestones are generally not achieved. For the Dutch patient group, growth deviates significantly from normal despite start of nasogastric tube feeding. Levels of aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, creatine kinase, or creatine kinase-myocardial band isoenzyme are typically elevated, although aspartate aminotransferase, alanine aminotransferase, and lactate dehydrogenase increase significantly with age. The patients have fully deleterious mutations. Acid alpha-glucosidase activity is severely deficient. CONCLUSIONS: Survival, decrease of the diastolic thickness of the left ventricular posterior wall, and achievement of major motor milestones are valid endpoints for therapeutic studies of infantile Pompe's disease. Mutation analysis and measurement of the alpha-glucosidase activity should be part of the enrollment program. [References: 111]
2003
van den Hout HM; Hop W; van Diggelen OP; Smeitink JA; Smit GP; Poll-The BT; Bakker HD; Loonen MC; de Klerk JB; Reuser AJ; Van der Ploeg AT
Pediatrics
2003
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1542/peds.112.2.332" target="_blank" rel="noreferrer">10.1542/peds.112.2.332</a>