Abetalipoproteinemia a rare case of malabsorption disorder with diagnostic insights: a case report

Abstract Background Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder marked by significantly reduced or absent levels of plasma cholesterol, low-density lipoproteins (LDLs), and very-low-density lipoproteins (VLDLs). This condition is also referred to as Bassen-Kornzweig syndrome. Patients with ABL commonly exhibit symptoms affecting the neurological, hematological, and gastrointestinal systems, arising from deficiencies in fat-soluble vitamins and impaired absorption of fat. This case report presents the unique challenges of diagnosing and managing ABL in an infant, emphasizing the importance of early recognition to prevent neurological complications. Case presentation We hereby report a case involving a 7-month-old male infant of Middle Eastern descent, who was admitted to Khalij Fars Hospital for evaluation of poor weight gain and frequent loose, bulky stools. Upon further investigation, the patient was diagnosed with Abetalipoproteinemia (ABL) and subsequently managed with dietary modifications and oral fat-soluble vitamins, resulting in improved growth and developmental progress. Conclusions This case underscores the need for timely recognition and tailored management of ABL to mitigate developmental and neurological complications, ultimately improving quality of life and outcomes. It also highlights the importance of screening in consanguineous populations to enable early diagnosis.