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ARC syndrome is not so rare

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ARC syndrome has a wider clinical spectrum than previously thought. Its clinical features cover abnormal morphology, abnormal platelets, recurrent fevers, diarrhoea, and failure to thrive, as well as the classic picture of arthrogryposis, renal tubular acidosis, and cholestasis.

Figure1

Infant with ARC syndrome

ARC syndrome is associated with consanguinity and is generally supposed to be a rare autosomal disorder. Since the first description in 1973, 11 pedigrees have been reported. Now observations are available from a review of six further cases from three paediatric centres in the UK over 10 years.

In common with previous findings, clinical features proved somewhat variable. However, typical findings of arthrogryposis, renal Fanconi syndrome, and cholestasis were present in all but one patient, who had nephrogenic diabetes insipidus. Unusually, despite severe cholestasis, serum γ glutamyltransferase values were normal for all patients. Further features included abnormal morphology, such as lax skin, low set ears, arched palate; scaly skin; recurrent febrile illnesses or sepsis; diarrhoea; and failure to thrive—all of which have been reported sporadically for ARC syndrome. Abnormally large platelets were also a common feature.

These observations indicate that ARC syndrome has a broader clinical picture and is likely to be less rare than previously thought. Indeed, a syndrome showing these features and reported as new in 1990 is probably ARC syndrome. Two consistent features from these latest cases— normal serum γ glutamyltransferase values and occurrence in Pakistani immigrant families, where marriages between blood relatives are common—may give clues to a way of identifying a candidate gene.

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