Bruising as the first sign of exocrine pancreatic insufficiency

Abstract

Exocrine pancreatic insufficiency is an important cause of chronic malnutrition, secondary to maldigestion-malabsorption, which can be caused in children especially by cystic fibrosis, but also by other much rarer diseases. The case of a 6 months and 3 weeks old male pediatric patient is reported, who was admitted to the clinic for head and forearms bruising. Laboratory findings identified vitamin K deficiency as the cause of the cutaneous hemorrhagic syndrome. Further investigations revealed association of steatorrhea (which is a marker of fat malabsorption), iron-deficiency anemia and hypovitaminosis D, which had been produced by nutritional deficiencies caused by malabsorption syndrome. From the numerous disorders that could be associated with pancreatic insufficiency in children, the following conditions had been excluded: cystic fibrosis (mucoviscidosis), cow`s milk protein intolerance, gluten-sensitive enteropathy (coeliac disease), Shwachman-Diamond syndrome, abetalipoproteinemia, etc. Based upon decreased levels of stool pancreatic elastase in repeated measurements, together with low serum lipase, the final diagnosis of exocrine pancreatic insufficiency was established. Treatment of this case consisted mainly in pancreatic enzyme replacement therapy, but also oral iron supplementation and dietary supplements with fat-soluble vitamins (A, D, E, K). The outcome was favorable, characterized by normalization of intestinal passage, ascending growth curve and normalization of the majority of laboratory tests values that were modified between the time of patient admission to our clinic and initiation of specific therapy (serum level of vitamin K, vitamin D and lipase, coagulation profile, hemoglobin and red blood cell indexes), as well as higher value of fecal pancreatic elastase.
 
 

An Unusual Presentation of Extremely Early Neonatal Cirrhosis in Shwachman-Diamond Syndrome: A Case Report

“…Shwachman-Diamond syndrome (SDS), a rare inherited bone marrow failure syndrome (IBMFS), is an autosomal recessive disorder with clinical features that include a triad of exocrine pancreatic insufficiency, haematological dysfunction and skeletal abnormalities. It is the second most common cause of pancreatic insufficiency after cystic fibrosis [ 1 ]. The most common age of presentation is infancy, with a higher incidence in males.…”

Overcoming the pitfalls of NGS-based molecular diagnosis of Shwachman-Diamond syndrome

“…It is the second most common cause of exocrine pancreatic insufficiency, with a reported incidence of 1 in 75,000 individuals [12] . Biallelic mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene are responsible for 90% of SDS patients [13][14][15][16] . Gene conversion between SBDS and its unprocessed pseudogene SBDSP1 results in two most common functional paralogous sequence variants (PSVs), c.183_184delinsCT and c.258+2T>C, on exon 2 [17] .…”

Aggressive Intervention of Pancrelipase After Pancreatectomy Prevents Deterioration of Postoperative Nutritional Status

“…However, pancreatectomy induces pancreatic exocrine insufficiency 2 and subsequently worsens nutrient absorption 3 . Therefore, long-term nutritional management is important to prevent body weight loss, sarcopenia, and postoperative fatty liver disease 4–6 …”