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Congenital Limb Anomaly as a New Presentation of Arthrogryposis-Renal Problems-Cholestasis (ARC) Syndrome in an Iranian Infant: A Case Report

Mitra Basiratnia, Forough Saki

Background: Arthrogryposis-Renal Problems-Cholestasis (ARC) syndrome is a rare autosomal recessive disease mostly presenting with arthrogryposis, renal problems and cholestasis. We present the first report of ARC syndrome in Iran manifested. Case Report: A 4-month-old male infant was admitted in our hospital with jaundice, poor feeding, tachypnea and lethargy. He has a history of congenital limb anomaly in his feet and jaundice on fifth day of birth. Laboratory and imaging studies revealed renal tubular acidosis, nephrocalcinosis and cholestasis. Despite antibiotic therapy, he died at the third day of hospitalization due to sepsis of pseudomonas aeroginosa and Escherichia coli co-infection and upper gastrointestinal bleeding secondary to coagulopathy of liver failure. Conclusion: ARC syndrome has various and rare clinical manifestations such as lower limb congenital anomaly, hypothyroidism, liver failure and nephrocalcinosis. [GMJ. 2015;4(3):117-21]

Lower limb anomaly; Arthrogryposis-Renal Problems-Cholestasis (ARC) syndrome; Hypothyroidism

Horslen SP, Quarrell OW, Tanner MS. Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. J Med Genet. 1994; 31(1):62-4.

Malaki M, Mandana R, Ghaffari S. ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus. Saudi J Kidney Dis Transpl. 2012; 23(4):804-9.

Saadah OI, Bokhari BE, Alshaeri TM, Jastaniah W. Haematological manifestations of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: a case report. Arab J Gastroenterol. 2013; 14(1):26-8.

Gissen P, Tee L, Johnson CA, Genin E, Caliebe A, Chitayat D, et al. Clinical and molecular genetic features of ARC syndrome. Hum Genet. 2006; 120(3):396-409.

Arhan E, Yusufoğlu AM, Sayli TR. Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report. Eur J Pediatr. 2009; 168(8):995-8.

Tekin N, Durmuş-Aydoğdu S, Dinleyici EC, Bör O, Bildirici K, Akşit A. Clinical and pathological aspects of ARC (arthrogryposis, renal dysfunction and cholestasis) syndrome in two siblings.Turk J Pediatr. 2005; 47(1):67-70.

Smith H, Galmes R, Gogolina E, Straatman-Iwanowska A, Reay K, Banushi B, et al.. Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. Hum Mutat. 2012; 33(12):1656-64.

Bull LN, Mahmoodi V, Baker AJ, Jones R, Strautnieks SS, Thompson RJ, Knisely AS. VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. J Pediatr. 2006; 148(2):269-71.

Eastham K, McKiernan P, Milford D, Ramani P, Wyllie J, van't H, et al. ARC syndrome: an expanding range of phenotypes. Arch Dis Child. 2001; 85(5):415-20.

Choi HJ, Lee MW, Choi JH, Moon KC, Koh JK. Ichthyosis associated with ARC syndrome: ARC syndrome is one of the differential diagnoses of ichthyosis. Pediatr Dermatol. 2005; 22(6):539-42.

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