Dandy-Walker syndrome linked to amelia, genu recurvatum, haemangioma, complex congenital heart defects, schizencephaly, and dyslipidaemia: a case report.

backgroundDandy-Walker syndrome (DWS) is an uncommon congenital abnormality characterised by agenesis or hypoplasia of the cerebellar vermis, cystic dilation of the fourth ventricle, and posterior fossa expansion. Neurological defects usually accompany the DWS; however, it has not been documented to coexist with amelia, genu recurvatum, complex congenital cardiac defects, or dyslipidaemia. CASE PRESENTATION: An 18-month-old girl who is a known case of DWS in association with multiple congenital anomalies, including bilateral amelia of the upper limbs, developmental dysplasia of the hip (DDH), bilateral hyperextended knees (genu recurvatum), congenital hypoplastic right ventricle, patent ductus arteriosus (PDA), and a superficial abdominal haemangioma, presented with fever and severe respiratory distress, likely due to recurrent aspiration and infections that required immediate medical intervention. Laboratory work-up revealed severe dyslipidaemia, including extremely high triglyceride (1372 mg/dL), total cholesterol (1254 mg/dL), low-density lipoprotein (975.6 mg/dL), and very low-density lipoprotein (274 mg/dL) levels, as well as significantly raised globulin (10.7 g/dL). The cause of dyslipidaemia is unknown; however, it may indicate an associated undiscovered genetic or metabolic problem that potentially increases the risk of cardiovascular and respiratory complications, which contribute to the severity of her presentation. Unfortunately, the patient died after ten days of critical care, and medical laboratory tests to exclude familial hypercholesterolaemia and pancreatitis, as well as the follow-up levels of dyslipidaemia, were not performed.

conclusionThe girl had multiple associations with DWS, necessitating thorough evaluation, including karyotyping and genetic sequencing, to improve long-term outcomes. However, cost barriers and a lack of specialised medical laboratories limited the scope of their request.