ARC Syndrome and Platelet’s Abnormalities about Two Cases

Case Report

Ann Hematol Oncol. 2017; 4(10): 1176.

ARC Syndrome and Platelet’s Abnormalities about Two Cases

Maaloul I¹*, Chabchoub I¹, Chaari M², Jribi S², Elleuch H², Aloulou H¹ and Hachicha M¹

¹Department of Pediatrics, Hedi Chaker Hospital, Tunisia

²Laboratory of Hematology, Hedi Chaker Hospital, Tunisia

*Corresponding author: Maaloul I, Department of Pedicatrics, Hedi Chaker Hospital, El Ain Street, Tunisia

Received: May 08, 2017; Accepted: November 07, 2017; Published: November 15, 2017


Introduction: ARC syndrome (arthrogryposis-renal dysfunctioncholestasis) is a rare lethal multisystemic autosomal recessive disease due to a mutation in the VP33B gene on chromosome 15q26.1.

Case Presentation: The authors reported two newborns of Tunisian consanguineous parents, who presented the three characteristic features of ARC syndrome. Their blood smear showed large, pale platelets which is characteristic in this syndrome. The two children were dead respectively at the age of 40 days and 2.5 months because of sepsis.

Conclusion: The presence of granular and large platelets, in newborns suffering from cholestasis, proximal tubulopathy and orthopedic problems should be considered as an important diagnosis criteria.

Keywords: Arthrogryposis-renal dysfunction- cholestasis syndrome; Cholestasis; Blood smear; Gray platelets; Child


ARC: Arthrogryposis Renal Dysfunction Cholestasis; g-GT: gamma-Glutamyltranspeptidase; GGT: Gamma Glutamyl Transferase


Since the first report of arthrogryposis renal dysfunction and cholestasis (ARC) syndrome by Lutz-Richter and Landolt in 1973 [1], this very rare and lethal infantile disease has been reported worldwide. ARC syndrome is a rare multisystem disorder which is fatal; death occurs generally in the first year of life. It’s an autosomal recessive disease due to a mutation in the VP33B gene on chromosome 15q26.1 [2]. The cardinal clinical features of the syndrome include cholestasis with normal serum gamma-glutamyltranspeptidase (g-GT) activity, arthrogryposis, and renal disorders (renal failure, renal tubular dysfunction) [1-3]. Bleeding problems have also been observed in this syndrome secondary to abnormal platelet’s morphology and function. Few reports on ARC syndrome have described abnormal platelets [2,4-6]. We report two new cases of ACR syndrome who presented documented abnormality of platelet’s morphology and function.

Cases Presentation

Case 1

A male infant was admitted at the age of 9 days for jaundice which was noticed on day 5. He was the fifth child to consanguineous healthy parents. He was born at term after an uneventful pregnancy, weighting 3300 g (50th percentile). There was a history of death of two brothers respectively at the age of 40 days and 4 months; they presented neonatal jaundice and skeletal abnormalities, whereas, his two sisters were healthy. At birth, arthrogryposis was noticed, but no evident other malformations. On admission, the clinical examination revealed dysmophism (low set ears, arched palate and retrognatism), ichthyosis, arthrogryposis (Figure 1), jaundice with normal colored stools, but no hepatomegaly. Laboratory tests showed high total bilirubin (366.6 μmol/l) and direct bilirubin (247 μmol/l), whereas, alanine transferase and aspartate aminotransferase levels were normal. Gamma-glutamyl–transferase (GGT) activity was normal (21 U/l). Biological tests revealed hyperchloremic metabolic acidosis with mild proteinuria and increased urea (14.2 mmol/l) and creatinine (92 μmol/l). Thyroid tests functions were normal and urine culture was negative for bacteria.