Acro-renal syndrome with primary central nervous system involvement: a case report and review of the literature

Background Acro-renal syndrome represents a rare congenital disorder characterized by limb and renal malformations. While classical descriptions focus on skeletal and urinary tract anomalies, emerging evidence suggests broader phenotypic involvement including central nervous system manifestations. Case presentation We present a 13-year-old Arab female, weighing 27 kg and measuring 129 cm in height (body mass index: 16.2 kg/m 2 ), with a unique constellation of features including right hand deformity, unilateral renal agenesis, and open-lip schizencephaly. The patient initially presented with nephrotic syndrome and acute kidney injury superimposed on chronic kidney disease. Neuroimaging revealed left frontal and prefrontal atrophy with open-lip schizencephaly, while renal ultrasonography demonstrated a solitary left kidney with advanced parenchymal changes and absent right kidney. Her medical history was notable for early-onset epilepsy and right-sided hemiparesis since birth. Discussion This case expands the recognized phenotypic spectrum of acro-renal syndrome by documenting significant neurological involvement alongside the classical renal and limb anomalies. The presence of schizencephaly in our patient aligns with rare previous reports suggesting that central nervous system (CNS) malformations may represent an underrecognized component of this syndrome. We review the epidemiology, clinical presentation, diagnostic approach, and management considerations for acro-renal syndrome while highlighting the importance of comprehensive multisystem evaluation in affected individuals. Conclusion Acro-renal syndrome may present with significant neurological manifestations beyond the classical limb and renal defects. Clinicians should maintain a high index of suspicion for CNS involvement and pursue appropriate neuroimaging in patients with suspected acro-renal syndrome, as early recognition may guide multidisciplinary management and genetic counselling.