Veiled pancreas: Unmasking the riddle of an invisible organ

A 30-year-old man presented with mild chronic diarrhea and abdominal cramping. He had an intellectual development disorder following brain injury in childhood. His mother had myelodysplastic syndrome. Physical examination was remarkable for low weight (63 kg; 20th percentile), clinodactyly of the fifth finger in the hands, syndactyly of the second and third toes (Figure 1a), a stature below the 2.24 standard deviations and shortening of the limbs. Extensive laboratory investigation showed leukopenia, thrombocytopenia and a fecal elastase of 124 μg/g. Contrast-enhanced abdominal CT and MRI showed no discernible signs of the pancreas due to marked atrophy and extensive adipose replacement, consistent with extreme lipomatosis (Figure 1b,c). These findings were suspicious for Schwachman-Bodian-Diamond Syndrome (SBDS). The patient was referred for genetic evaluation; molecular study confirmed compound heterozygosity (c.183_184delTAinsCT and c.258+2T>C), validating the diagnosis.1 Symptoms improved with pancreatic enzyme replacement therapy. SBDS is a rare autosomal recessive disorder defined by exocrine pancreatic insufficiency, bone marrow dysfunction and skeletal abnormalities. Mutations in the SBDS gene (chromosome 7) affect ribosomal function and the hematopoietic microenvironment. SBDS is the second most common cause of exocrine pancreatic insufficiency in childhood.2, 3 Clinical manifestations include failure to thrive, steatorrhea, malabsorption and neurological abnormalities. Fatty replacement of the acinar cells is a hallmark of the disease.2, 4 Diagnostic features typically present in childhood but may fade in adulthood as pancreatic function improves and cytopenias fluctuate.4 Heightened suspicion is crucial for timely diagnosis. Albeit incurable, hematologic follow-up is warranted due to malignancy risk such as myelodysplastic syndrome and acute myeloid leukemia.2-4 Syndactyly of the second and third toes (a); Axial T2-weighted (b) and T2-weighted fast spin-echo (c) magnetic resonance imaging of the abdomen reveal the pancreas not visible in its usual topography, completely replaced by fat (indicated by arrows), as documented with loss of signal on fat-suppressed weighting. Project design/conception: André Gonçalves, Carina Leal, and Pedro Marcos. Data and figures chart extraction: André Gonçalves and Carina Leal. Manuscript drafting: André Gonçalves and Carina Leal. Critical revision of the manuscript: All authors performed a critical revision of the manuscript and approved the final manuscript. The authors have not declared a specific grant for this research from any funding agency in the public, commercial, or not-for-profit sectors. The authors have no conflicts of interest to disclose. There are no funding sources to declare. This study does not involve human participants. The project was subjected to the standards of good clinical practice and always complied with the ethical precepts of the Declaration of Helsinki. Consent was obtained directly from the patient legal guardian. Data sharing is not applicable to this article as no new data were created or analyzed in this study.