Öz
Pompe disease PD is an autosomal recessive glycogen storage disease of childhood which is caused by deficiency of lysosomal enzyme acid-α-glucosidase. PD is classified into two; infantile onset and late onset. İnfantile onset disease, typically present during the first few weeks of life with hypotonia, hepatomegaly and hypertrophic cardiomyopathy and usually infantile death within the first year of life. Late-onset Pompe disease usually presents with proximal muscle weakness and respiratory insufficiency in childhood or late adulthood. In this case report we describe a two-year-old boy diagnosed with late-onset PD with enzyme level and genetic analysis who did not have any major signs other than pitosis and disarthria which could be easily misdiagnosed
Anahtar Kelimeler
Kaynakça
- Pompe JC. Over idiopathische hypertrophie van het hart. Ned Tijdschr Geneeskd. 1932;76:304–12.
- Van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT, et al. The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatrics 2003;112:332-40.
- Van Capelle CI, van der Meijden JC, van den Hout JMP, et al. Childhood Pompe disease: clinical spectrum and genotype in 31 patients. Orphanet Journal of Rare Diseases. 2016;11:65. [CrossRef]
- Lıu Y, Yang Y, Wang B, et al. Infantile Pompe disease: A case report and review of the Chinese literature. Experimental and Therapeutic Medicine. 2016;11:235-8. [CrossRef]
- Hermans MM, Kroos MA, Smeitink JA, van der Ploeg AT, Kleijer WJ, Reuser AJ. Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry. Hum Mutat. 1998;11:209-15. [CrossRef]
- Lukacs Z, Nieves Cobos P, Mengel E, Hartung R, Beck M, Deschauer M, et al. Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening. J Inherit Metab Dis. 2010;33:43-50. [CrossRef]
- Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S. Newborn screening for lysosomal storage disorders. Semin Perinatol. 2015 Apr;39:206-16. [CrossRef]
- Wittmann J, Karg E, Turi S, et al. Newborn Screening for Lysosomal Storage Disorders in Hungary. JIMD Reports. 2012;6:117-25. [CrossRef]
- Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006 may;8:267-88. Genet Med. 2006 Jun;8:382. [CrossRef]
- Dasouki M, Jawdat O, Almadhoun O, Pasnoor M, McVey AL, Abuzinadah A, et al. Pompe disease: literature review and case series. Neurol Clin. 2014;32:751-76, [CrossRef]
- Ley-Martos M, Salado-Reyes MJ, Espinosa-Rosso R, Solera-García J, Jiménez-Jiménez L. [Variability in the clinical presentation of Pompe disease: development following enzyme replacement therapy]. Rev Neurol. 2015;61:416-20.
- Wens SC, van Gelder CM, Kruijshaar ME, de Vries JM, van der Beek NA, Reuser AJ et al. Phenotypical variation within 22 families with Pompe disease. Orphanet J Rare Dis. 2013;8:182. [CrossRef]
- Prakalapakorn SG, Proia AD, Yanovitch TL, et al. Ocular and Histologic Findings in a Series of Children with Infantile Pompe Disease Treated with Enzyme Replacement Therapy. Journal of pediatric ophthalmology and strabismus. 2014;51:355-62. [CrossRef]
- Johnson EM, Roberts M, Mozaffar T, Young P, Quartel A, Berger KI. Pulmonary function tests (maximum inspiratory pressure, maximum expiratory pressure, vital capacity, forced vital capacity) predict ventilator use in late-onset Pompe disease. Neuromuscul Disord. 2016 Feb;26:136-45. [CrossRef]
- Case L.E., Beckemeyer A.A., Kishnani P.S., Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations. Am J Med Genet C Semin Med Genet, 2012;160: 69-79. [CrossRef]
- Echaniz-Laguna A, Carlier RY, Laloui K, Carlier P, Salort-Campana E, Pouget J et al. Should patients with asymptomatic pompe disease be treated? A nationwide study in France. Muscle Nerve. 2015 Jun;51:884-9. [CrossRef]
Öz
Pompe hastalığı PH , otozomal resesif kalıtılan çoğunlukla çocukluk çağında görülen lizozomal α-asid-glukozidaz eksikliği ile seyreden bir glikojen depo hastalığıdır. Hastalığın erken ve geç başlangıçlı olmak üzere iki tipi vardır. İnfantil tip, tipik olarak ilk birkaç hafta içinde hipotonisite, hepatomegali, kardiyomiyopati ile seyreder ve genellikle ilk bir yaşta kaybedilir. Geç başlangıçlı tip PH genellikle çocukluk veya erişkin dönemde proksimal kas güçsüzlüğü ve solunum sıkıntısı ile ortaya çıkar. Makalemizde tanısı kolaylıkla gözden kaçabilecek olan pitoz ve disfaji dışında majör bulgusu olmayan, enzim düzeyi ve genetik analiz ile geç başlangıçlı PH tanısı koyulan iki yaşında erkek hasta sunulmaktadır
Anahtar Kelimeler
Erken çocukluk disfaji geç başlangıçlı pompe hastalığı pitoz
Kaynakça
- Pompe JC. Over idiopathische hypertrophie van het hart. Ned Tijdschr Geneeskd. 1932;76:304–12.
- Van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT, et al. The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatrics 2003;112:332-40.
- Van Capelle CI, van der Meijden JC, van den Hout JMP, et al. Childhood Pompe disease: clinical spectrum and genotype in 31 patients. Orphanet Journal of Rare Diseases. 2016;11:65. [CrossRef]
- Lıu Y, Yang Y, Wang B, et al. Infantile Pompe disease: A case report and review of the Chinese literature. Experimental and Therapeutic Medicine. 2016;11:235-8. [CrossRef]
- Hermans MM, Kroos MA, Smeitink JA, van der Ploeg AT, Kleijer WJ, Reuser AJ. Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry. Hum Mutat. 1998;11:209-15. [CrossRef]
- Lukacs Z, Nieves Cobos P, Mengel E, Hartung R, Beck M, Deschauer M, et al. Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening. J Inherit Metab Dis. 2010;33:43-50. [CrossRef]
- Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S. Newborn screening for lysosomal storage disorders. Semin Perinatol. 2015 Apr;39:206-16. [CrossRef]
- Wittmann J, Karg E, Turi S, et al. Newborn Screening for Lysosomal Storage Disorders in Hungary. JIMD Reports. 2012;6:117-25. [CrossRef]
- Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006 may;8:267-88. Genet Med. 2006 Jun;8:382. [CrossRef]
- Dasouki M, Jawdat O, Almadhoun O, Pasnoor M, McVey AL, Abuzinadah A, et al. Pompe disease: literature review and case series. Neurol Clin. 2014;32:751-76, [CrossRef]
- Ley-Martos M, Salado-Reyes MJ, Espinosa-Rosso R, Solera-García J, Jiménez-Jiménez L. [Variability in the clinical presentation of Pompe disease: development following enzyme replacement therapy]. Rev Neurol. 2015;61:416-20.
- Wens SC, van Gelder CM, Kruijshaar ME, de Vries JM, van der Beek NA, Reuser AJ et al. Phenotypical variation within 22 families with Pompe disease. Orphanet J Rare Dis. 2013;8:182. [CrossRef]
- Prakalapakorn SG, Proia AD, Yanovitch TL, et al. Ocular and Histologic Findings in a Series of Children with Infantile Pompe Disease Treated with Enzyme Replacement Therapy. Journal of pediatric ophthalmology and strabismus. 2014;51:355-62. [CrossRef]
- Johnson EM, Roberts M, Mozaffar T, Young P, Quartel A, Berger KI. Pulmonary function tests (maximum inspiratory pressure, maximum expiratory pressure, vital capacity, forced vital capacity) predict ventilator use in late-onset Pompe disease. Neuromuscul Disord. 2016 Feb;26:136-45. [CrossRef]
- Case L.E., Beckemeyer A.A., Kishnani P.S., Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations. Am J Med Genet C Semin Med Genet, 2012;160: 69-79. [CrossRef]
- Echaniz-Laguna A, Carlier RY, Laloui K, Carlier P, Salort-Campana E, Pouget J et al. Should patients with asymptomatic pompe disease be treated? A nationwide study in France. Muscle Nerve. 2015 Jun;51:884-9. [CrossRef]
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Eylül 2018 |
| Yayımlandığı Sayı | Yıl 2018Sayı: 3 |