Pattern of Chediak Higashi syndrome in Egyptian Children: a variant with hyperpigmentation of the skin and a subtle clinical course

Chediak Hiagshi Syndrome [CHS] is a rare immunodeficiency disorder involving phagocytes with autosomal recessive inheritance.CHS is characterized classically by hypopigmentation, recurrent infections and may progress into accelerated phase with lymphoma like infilteration of reticuloendothelial system. Objective: Study pattern of Chediak Higashi Syndrome in Egyptian children with different presentations as a variant with initial hyperpigmentation is reported. Cases presenting to the Clinical Immunodeficiency clinic at Cairo University Specialized Pediatric Hospital from 2003-2007 diagnosed with Chediak Higashi Syndrome [CHS] were included. Cases underwent history taking with emphasis on family history and consanguinity, meticulous physical examination and basic laboratory investigations. Ten cases were diagnosed with CHS. Mean age of presentation was 3.1 years with a standard deviation of 4.9.Consanguinity was positive in 70% of cases. Clinical patterns showed two cases with initial generalized progressive hyperpigmentation followed by later fading of hair color and a benign slowly progressive bicytopenia [anemia and thrombocytopenia] and a subtle clinical course with no development into accelerated phase so far despite the bicytopenia [3 and 4 years]. CHS may have confusing presentations which may delay diagnosis and decrease chance with BMT if feasible. Reporting of any similar cases to study pattern of progression and whether this form has a milder course over years in view of infections, malignancy and accelerated phase development and or different mutations

Correlation of abdominal ultrasonographic findings with continuous 24-hour PH monitoring oesophageal studies in children with gasrtroesphageal reflux disease [GORD]

Gastro oesophageal reflux [GOR] is a common, benign, usually self limiting condition but gastro oesophageal reflux disease [GORD] is less common and can lead to oesophagitis, pulmonary aspiration and acute life threatening events. The assessment of GOR normally requires invasive techniques. Our objective was to assess the role of gastro oesophageal ultrasound [US] as a screening tool for children with significant GOR compared with 24 hour pH studies. US and pH monitoring was compared retrospectively in 31 symptomatic children who underwent both investigations. Average age of 3.7 years [range 2 months to 11 years]. 16 US was found to be a useful technique with 93% sensitivity, 53% specificity, a low false negative rate of 3% and a negative predictive value of 88% for the detection of significant GOR compared with pH probe studies. Abdominal ultrasound can be a useful non-invasive screening method for the detection of significant GOR allowing more invasive pH probe, studies to be reserved for selected patients