There are few reports of reference ranges for haematological values in school age children and most studies extend over a small age range or have excluded a considerable proportion of the study population in an effort to omit those with haemoglobinopathies or anaemia. Blood samples from 2135 children aged 4-19 years, from randomly selected schools, were analysed by automated counter. Reference ranges for red cell, white cell and platelet indices are provided from the results. Median haemoglobin and red blood cell count values for girls and boys rose together with increasing age, up to 12 years, but then diverged. Girls had a higher platelet count than boys. Mean platelet volume rose with age and was inversely related to the platelet count. Plateletcrit fell with age but in girls there was a peri-pubertal peak. Total leucocyte count fell with age. The upper limits for total leucocyte count in this study are approximately 2 x 10(9) lower than those quoted in modern haematology textbooks. Lymphocyte, eosinophil and basophil counts fell with age with little difference between the sexes. Neutrophil and monocyte counts were similar for younger girls and boys but diverged in the older children with the older girls having higher values than boys.

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Background: Alagille syndrome (AGS) is an autosomal-dominant, multisystem disorder caused by mutations in the JAG1 gene.Case Description: A 34-year-old man was referred to our service 10 years ago with focal seizures with impaired awareness and transient slurred speech. He had a 5-year history of intermittent left monocular low-flow retinopathy. He has a family history of AGS. General examination revealed mild hypertension, aortic regurgitation, and livedo reticularis. Neurological examination was normal.Investigations: He had mild hyperlipidaemia and persistently-positive lupus anticoagulant consistent with primary anti-phospholipid syndrome. Color Doppler ultrasound revealed low velocity flow in a narrowed extracranial left internal carotid artery (ICA). MR and CT angiography revealed a diffusely narrowed extracranial and intracranial left ICA. Formal cerebral angiography confirmed severe left ICA narrowing consistent with a left ICA “vasculopathy” and moyamoya phenomenon. Transthoracic echocardiogram revealed a bicuspid aortic valve and aortic incompetence. Molecular genetic analysis identified a missense mutation (A211P) in exon 4 of the JAG1 gene, consistent with AGS.Discussion: AGS should be considered in young adults with TIAs/stroke and unexplained extracranial or intracranial vascular abnormalities, and/or moyamoya phenomenon, even in the absence of other typical phenotypic features. Gene panels should include JAG1 gene testing in similar patients.