Background: Pompe disease (P.D.), also known as Glycogen storage disease type II, is an autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase (AAA) or maltase acid. This enzyme allows the hydrolysis of lysosomal glycogen. Patients with infantile-onset P.D. (IOPD) exhibit a nearly complete absence of AαGlu activity; moreover, they develop hypotonia and hypertrophic cardiomyopathy during infancy. Patients with IOPD eventually die of cardiorespiratory failure due to the accumulation of massive amounts of glycogen in their skeletal and heart muscles. Case report: T.M. is a 4-month-old female infant, the second of two siblings, hospitalized at the Neonatology and Nutrition Center in Rabat, Morocco, for severe respiratory distress with generalized congenital hypotonia. Conclusion: Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterized by the degeneration of alpha motor neurons within the spinal cord. The disease is linked to a mutation in the survival motor neuron (SMN)1 gene on chromosome 5 (5q13.2), which prevents the synthesis of SMN protein. No case of association has been reported between these two diseases to date. We present a case of Pompe disease associated with spinal muscular atrophy.
Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr. 2004; 144(5):35–43.
Prior TW, Snyder PJ, Rink BD, Pearl DK, Pyatt RE, Mihal DC, et al. Newborn and carrier screening for spinal muscular atrophy. Am J Med Genet A. 2010; 152(7):1605–7.
Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995; 80(1):155-65.
They-They TP, Nadifi S, Dehbi H, Bellayou H, Brik H, Slassi I, Itri M. Phenotype–genotype correspondance in spinal muscular atrophy in a moroccan family. Arch Pediatr. 2008; 15(7):1201-5.
Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve. 2009; 40:149–60.
Lacombe D, Verloes Faut-il envisager le dépistage néonatal de la maladie de Pompe. Arch Pediatr. 2014; 21:561-3.
Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012; 45(3): 319-33.
Aouraghe, H., Radouani, M., Elouardighi, I., Dibi, A., & Barkat, A. (2022). Pompe Disease and Infantile Spinal Muscular Atrophy: Association or Coïncidence?. Iranian Journal of Neonatology, 13(3), 92-94. doi: 10.22038/ijn.2022.61746.2180
MLA
Hanae Aouraghe; Mohammed Amine Radouani; Ilham Elouardighi; Asmaa Dibi; Amina Barkat. "Pompe Disease and Infantile Spinal Muscular Atrophy: Association or Coïncidence?". Iranian Journal of Neonatology, 13, 3, 2022, 92-94. doi: 10.22038/ijn.2022.61746.2180
HARVARD
Aouraghe, H., Radouani, M., Elouardighi, I., Dibi, A., Barkat, A. (2022). 'Pompe Disease and Infantile Spinal Muscular Atrophy: Association or Coïncidence?', Iranian Journal of Neonatology, 13(3), pp. 92-94. doi: 10.22038/ijn.2022.61746.2180
VANCOUVER
Aouraghe, H., Radouani, M., Elouardighi, I., Dibi, A., Barkat, A. Pompe Disease and Infantile Spinal Muscular Atrophy: Association or Coïncidence?. Iranian Journal of Neonatology, 2022; 13(3): 92-94. doi: 10.22038/ijn.2022.61746.2180
)