Thus, these cases emphasise the importance of vigilant assessment of common paediatric presentations, which may be presenting symptoms of underlying sinister pathologies. [ncbi.nlm.nih.gov]

The classic infantile-onset is the most broadly known form of Pompe disease, which presents with severe heart involvement and clear hypotonia, while the non-classic presentation occurs with early motor involvement. [pubmed.ncbi.nlm.nih.gov]

• Feeding Difficulties

  The infant initially presented with difficulty in breathing and poor feeding as early as 17-days-old, however, he was not further investigated as he recovered with supportive care. [ncbi.nlm.nih.gov]

• Respiratory Distress

  The acute presentation was due to the worsening respiratory distress and apathy for 3 days without fever. [ncbi.nlm.nih.gov]

• Macroglossia

  However, her mouth was visibly open at rest, possibly due to mild macroglossia. She was tachypneic (respiratory rate: 60/min, the normal range for 3–6 months: 30–55) and had subcostal and intercostal recessions with nasal flaring. [ncbi.nlm.nih.gov]

• Cardiomegaly

  (A)Massive cardiomegaly on chest X-ray, (B)short axis view of the heart demonstrating severe biventricular hypertrophy on echocardiogram. Histological findings of infant B at the age of 6 months. [ncbi.nlm.nih.gov]

• Heart Failure

  (cardiomegaly) Heart failure Danon disease Hypertrophic cardiomyopathy Skeletal muscle myopathy Vacuolar glycogen storage Elevated levels of CK Carnitine deficiency Cardiomyopathy Weakness in muscle Glycogen storage diseases III and IV Enlarged heart [ncbi.nlm.nih.gov]

• Hepatomegaly

  Her abdomen was not tender, but she had mild hepatomegaly and reduced muscle tone in all four limbs. [ncbi.nlm.nih.gov]

• Muscle Weakness

  (cardiomegaly) Heart failure Danon disease Hypertrophic cardiomyopathy Skeletal muscle myopathy Vacuolar glycogen storage Elevated levels of CK Carnitine deficiency Cardiomyopathy Weakness in muscle Glycogen storage diseases III and IV Enlarged heart [ncbi.nlm.nih.gov]

• Muscular Atrophy

  […] dystrophy ++ + – – – – – – – Spinal muscular atrophy type I – – – – – – – – – Outcome and follow-up Irreversible muscle damage had taken place in both infants by the time of confirming the diagnosis of IoPD with enzyme assays at 5 months in infant A [ncbi.nlm.nih.gov]

• Muscle Hypotonia

  (hypotonia, reduced muscle power, motor delay, macroglossia and type II respiratory failure), smooth muscle (feeding difficulties), liver (hepatomegaly and hepatocellular damage), and central nervous system (physiological fatigue).13 16 These symptoms [ncbi.nlm.nih.gov]

[…] and non-genetic conditions such as maternal GDM accounting for <10% of cases each, while sarcomeric-protein disease accounts for a majority (50%).18 Due to the rarity of PD and a variety of disorders with a similar presentation, the initial diagnostic workup [ncbi.nlm.nih.gov]

• Atelectasis

  […] methods to confirm IOPD Diagnostic approaches Confirmatory findings CPK Elevated (not more than 1500–2000 IU/L) Blood tests, such as ALT, AST, LDH, and urine tests, such as HEX4 Elevated Chest X-ray Reduction in lung volume, cardiomegaly, and/or areas of atelectasis [ncbi.nlm.nih.gov]

• Short PR Interval

  PR interval, inverted T-wave, wide/broad QRS complex Echocardiogram Hypertrophic cardiomyopathy with or without ventricular outflow tract obstruction; the late stages of the disease are often characterized by dilated cardiomyopathy MRI (not routinely [ncbi.nlm.nih.gov]

Current clinical challenges in the treatment of IOPD The first and foremost challenge in the treatment of IOPD is the response of patients with IOPD to ERT as it is very heterogeneous. [ncbi.nlm.nih.gov]

We also review the benefits and adverse effects of available treatments and new lines of therapeutic research. [pubmed.ncbi.nlm.nih.gov]

Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth. J Pediatr 2015;166:985–91. 10.1016/j.jpeds.2014.10.068 [PubMed] [CrossRef] [Google Scholar] 22. [ncbi.nlm.nih.gov]

Epidemiologic studies in the Middle East region indicate a rising IOPD burden in the Gulf region. In particular, the prevalence of IOPD in the United Arab Emirates (UAE) has been reported as 2.66 per 100,000 [8]. [ncbi.nlm.nih.gov]

It prevents cardiac and respiratory complications and helps in achieving normal growth and development in patients with IOPD. [ncbi.nlm.nih.gov]