Infantile Pompe's disease presenting with pulmonary infections during the newborn period

Saudi Medical Journal

Volumn 25, Issue 12, 2004, Pages 2022-2023

  Akcam, Mustafa ^a,b  

^a SULEYMAN DEMIREL UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^b NONE   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; GLUCAN 1,4 ALPHA GLUCOSIDASE; LACTATE DEHYDROGENASE;

ALKALINE PHOSPHATASE BLOOD LEVEL; ARTIFICIAL VENTILATION; ASPIRATION PNEUMONIA; AUTOSOMAL RECESSIVE DISORDER; BLOOD TRANSFUSION; CARDIOMEGALY; CARDIOPULMONARY INSUFFICIENCY; CASE REPORT; CHILDHOOD MORTALITY; CHROMOSOME 17Q; ELECTROCARDIOGRAPHY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENE THERAPY; GLYCOGEN STORAGE DISEASE TYPE 2; HEART FAILURE; HEPATOMEGALY; HOSPITAL ADMISSION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INCIDENCE; INFANT; JUVENILE; LACTATE DEHYDROGENASE BLOOD LEVEL; LUNG INFECTION; LUNG INFILTRATE; MACROGLOSSIA; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NEWBORN PERIOD; NOTE; ONSET AGE; PARENTERAL NUTRITION; PHENOTYPE; PNEUMONIA; PR INTERVAL; QRS COMPLEX; TACHYPNEA; THORAX RADIOGRAPHY;

CARDIOMYOPATHY, HYPERTROPHIC; CONSANGUINITY; FATAL OUTCOME; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; INFANT, NEWBORN; LIVER FUNCTION TESTS; PALLIATIVE CARE; PNEUMONIA; RECURRENCE;

EID: 13844272210     PISSN: 03795284     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Note

References (5)

1. Chen YT. Defects in Metabolism of Carbohydrates. In: Behrman RE, editor. Nelson Textbook of Pediatrics. 16th ed. Philadelphia (PA): WB Saunders Co; 2000. p. 411-412.
2. Roben N, Plotz P, Byrne BJ. Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe's disease). Curr Mol Med 2002; 2:145-166.
3. Winkel LP, Kamphoven JH, van den Hout HJ, Severijnen LA, van Doorn PA, Reuser AJ, et al. Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy. Muscle Nerve 2003; 27: 743-751.
4. Noori S, Acherman R, Siassi B, Luna C, Ebrahimi M, Pavlova Z, et al. A rare presentation of Pompe's disease with massive hypertrophic cardiomyopathy at birth. J Perinat Med 2002; 30: 517-521.
5. Wahbeh GT, Moodie DS. An Infant with Cardiomegaly. Clin Pediatr 2001; 40: 615-619.