Pompe disease is a progressive, multisystemic, debilitating, often fatal neuromuscular disease caused by a pathogenic variant in the acid α-glucosidase gene leading to GAA enzyme deficiency and lysosomal glycogen accumulation. Objectives: This study aimed to determine the prevalence of early onset Pompe disease in Basra, using the dried blood spot (DBS) as a screening tool, also to determine the spectrum of presentation. Materials and Methods: In a prospective study conducted in Basrah, Iraq, from October 2021 to September 2023, all infants with a family member diagnosed as a case of Pompe disease, hypotonia, or ventricular hypertrophy referred to the pediatric cardiology unit in Basra Cardiac Hospital were subjected to echocardiographic examination and assessment of GAA enzyme level, and genetic study by dried blood spot. Results: Thirty patients with confirmed Pompe disease were evaluated (12 males and 18 females), and the mean age of presentation was 3.7 months. The level of CK raged from 123 to 1471 (mean 614.3 ± 247), and the level of GAA activity ranged from 0.0 to 0.3 (mean 0.123 ± 0.07). All infants were homozygous for mutations in GAA. The most commonly encountered mutation was c.1314C>A. Conclusion: Pompe disease is an underestimated disease in Iraq, and the delay in the diagnosis results in established, irreversible myopathic changes even with enzyme replacement therapy and results in high mortality, so a high index of suspicion and early diagnosis will help to provide proper therapy and will help to provide a better quality of life for such patients
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Introduction: Cerebral hydatid disease (CHD) is rare and the multiple-cystic variety is even rarer. In this paper, we report a case of multiple CHD and explore a possible link with a preceding spontaneous intracerebral haemorrhage (ICH). Case presentation: A 27-year old gentleman with a history of surgically-evacuated, spontaneous ICH presented with severe headache, left-sided weakness - Medical Research Council (MRC) grade II - and recurrent tonic-clonic seizures, while on a full dose of anti-epileptic medication. Brain magnetic resonance imaging (MRI) scans showed multiple intra-axial cystic lesions in the right hemisphere. The cysts were removed intact using Dowling’s technique through a large temporoparietal crani
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Congenital hand and forearm anomalies pose a unique challenge in plastic and pediatric surgery. We present a case report of an 8- months-old girl with a congenital left sided hand and forearm anomaly, provisionally diagnosed as atypical left mirror hand anomaly. Classically there is absence of radius and duplication of ulna; however, our case had normal radius and ulna and a hand with seven digits arranged in two groups. We did a surgery which involved a ray amputation of the finger ulnar to the most radial digit, aiming to preserve an adequate first web space to reconstruct the thumb. The result of the surgical treatment in both functional and cosmetic aspects was, in authors’ opinion, good.
Background: Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by bilateral stenosis starting at the supraclinoid internal carotid artery (ICA), with the development of a collateral network of vessels. It is an established cause of stroke in the pediatric age group. Despite its increasing prevalence in various parts of the world, it remains largely underrecognized in the Middle East, particularly in Iraq. This is the first case of MMD in an Iraqi patient undergoing surgery. Case description: A 12-year-old boy presents with a 3-months history of progressive behavioural changes. MRI revealed diffuse infarcts of different ages. MRA and CT angiography revealed extensive asymmetrical steno-occlusive changes of t
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Irisin is a myokine that controls energy metabolism by making adipose tissue brown. The present goal in doing this research was to determine how irisin concentration relates to other biochemical markers of disease. Hemodialysis (HD) for chronic kidney failure. The study included 30 individuals with end-stage renal disease on HD and 30 healthy subjects as the control group. The ages of all patients and the control group ranged from (25 to 60) years. The excluded criteria included patients with viral hepatitis and diabetes. Serum irisin concentration and the level of fasting serum glucose (FSG), urea, creatinine (Cr), total protein (TP), albumin (Alb), albumin to creatinine ratio (ACR), total cholesterol (TC), alanine aminotransferase (ALT),
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