ABSTRACT
To describe the cytogenetic pattern, clinical features and other systemic anomalies of patients with Down syndrome at King Hussein Medical Centre. Retrospective analysis of medical case files of Down syndrome patients attending the Genetics Clinic at King Hussein Medical Center was performed. A total of 87 patients were studied during the period between June 2007 to December 2009 [54 males and 33 females; M:F ratio 1.6:1]. The following information was recorded: age at presentation; gender; maternal age; craniofacial and other physical features; presence and type of congenital heart disease, gastrointestinal abnormalities, hearing assessment, ophthalmic evaluation, complete blood count, kidney and liver function tests, thyroid function tests, and results of cytogenetic evaluation Out of the 87 patients studied; ophthalmologic abnormalities were detected in 20 out of 67 patients whose eye examination was available. Congenital heart disease was found in 41 [48.8%] cases out of 84 patients who underwent Echocardiographic examination. Gastrointestinal anomalies were noted in 9 [11%] cases. Hypothyroidism was present in 17[22.7%] cases out of 75 patients. Results of chromosomal analysis were available in 80 patients and showed free trisomy [non-disjunction] in74 patients [92.5%], two [2.5%] had translocation, and three [3.8%] were mosaics and one patient [1.3%] had an additional chromosomal abnormality. Down syndrome is associated with a significant systemic abnormalities and is frequently seen among mothers younger than 25 years of age. Early diagnosis and proper screening should be undertaken among these patients
ABSTRACT
To describe the different types, and frequencies of inborn errors of metabolism in the Pediatric Metabolic Genetics Clinic at King Hussein Medical Center, Amman, Jordan. A retrospective review of the medical records of patients attending the metabolic genetics clinic who were diagnosed to have an inborn error of metabolism over the last five years [Jan 2005-Jan 2010] was conducted. The following data were recorded, age, gender, diagnosis, consanguinity of parents, and the presence of affected family members or relatives. A total of 212 patients were included in the study, 107 were males and 105 were females with a male to female ratio of 1:1. The mean age of patients at diagnosis was 11.8 +/- 11.1 months [range 1-50 months]. Fifty seven [27.8%] patients had aminoacidopathies of whom 24 [11.3%] had tyrosinemia, 51 [24.1%] patients had organic acidemias of whom 14 [6.6%] had propionic acidemia. Twenty five [11.8%] had lysosomal storage diseases, 21 [9.9%] patients had glycogen storage disease. Seventeen had dyslipidemias, seven [8%] had peroxisomal disorders, four [1.9%] had galactosemia, and 28 [13.2%] had other diagnoses. Parental consanguinity was noted in137 out of 151 families, and 79 of 151 families [54%] had another affected family member. Patients with inborn errors of metabolism are becoming increasingly diagnosed. Tyrosinemia is the most common of the aminoacidopathies, whereas propionic acidemia is the commonest of the organic acidemias. Due to the difficulties and delay in diagnosing these diseases, newborn screening is highly recommended for early intervention and counselling