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Case Report: Snijders Blok-Campeau Syndrome (SNIBCPS) and Chronic Pancreatitis; Expanding the Phenotype 

Clinical Genetics and Therapeutics
  • Primary Categories:
    • Clinical Genetics
  • Secondary Categories:
    • Clinical Genetics
Introduction
Snijder Blok-Campeau syndrome (SNIBCPS) is an infrequent autosomal dominant disorder first described by Snijder Blok et al. in 2018. It is associated with pathogenic variants in the CHD3 gene and is characterized by a range of neurodevelopmental challenges, including speech delays, intellectual disability, and macrocephaly. The importance of chromatin remodeling in brain development underscores the significance of CHD3 in neurodevelopmental disorders. Here, we report a case of an 8 year old male with SNIBCPS from a pathogenic variant in CHD3 who also presented with pancreatic insufficiency, which has not been previously reported in association with SNIBCPS.

Case Presentation
RS is an 8-years old male, was a product of Hispanic parents, Limited available perinatal history. Unknown maternal history other than history of alcoholism and drug abuse. He has past medical history of prematurity (34 weeks gestation), bilateral inguinal hernia (repaired), chronic lung diseases, global developmental delay, macrocephaly associated with benign enlargement of subarachnoid spaces in infancy, hypotonia, rumination disorder, and pancreatic insufficiency with chronic diarrhea. MicroArray and macrocephaly/overgrowth panel was negative . WES+Mito found a pathogenic, AD, CHD3 mutation (c.3692 G>A) associated with CHD3-related neurodevelopmental disorder or Snijders Blok-Campeau syndrome (SNIBCPS), which explains his phenotype except the pancreatic insufficiency as there has not been reports of pancreatic insufficiency with this syndrome. A hereditary pancreatitis panel (seq/del/dup: CASR, CFTR, CPA1, CTRC, PRSS1, SPINK1) was sent to work up for a different etiology that could explain it but was all negative.

Diagnostic Workup
MicroArray and macrocephaly/overgrowth panel was negative . WES+Mito found a pathogenic, AD, CHD3 mutation (c.3692 G>A) associated with CHD3-related neurodevelopmental disorder or Snijders Blok-Campeau syndrome (SNIBCPS), which explains his phenotype except the pancreatic insufficiency as there has not been reports of pancreatic insufficiency with this syndrome. A hereditary pancreatitis panel (seq/del/dup: CASR, CFTR, CPA1, CTRC, PRSS1, SPINK1) was sent to work up for a different etiology that could explain it but was all negative

Treatment and Management
There is no cure for Snijders Blok-Campeau Syndrome, management and treatment focus on managing symptoms through a multidisciplinary approach, including supportive care. speech therapy, physical therapy, occupational therapy, and addressing any complications like seizures with appropriate medication, while also providing individualized educational plans (IEPs) for school-age children based on their needs. 

Outcome and Follow-Up
Chromatin remodeling is of crucial importance during brain development. Pathogenic alteration of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. Expression data showed that CHD3 is expressed in the brain and is part of a module of functionally connected genes that are highly expressed during early human brain development.

In the literature there are approximately 60 cases of SNIBCPS reported. SNIBCPS is a group of Neurodevelopmental disorders which clinical features include global developmental delay, intellectual disability, speech and languages difficulties and behavioral disorders like autism. In addition, they exhibit typical dysmorphic features including macrocephaly, hypertelorism, sparse eyebrows, broad forehead, prominent nose and pointed chin. While there is not cure, management focuses on supportive care including early intervention therapies like speech therapy,  occupational therapy and individualized education plans to maximize developmental potential and quality of life and multidisciplinary management for specialist. 

Discussion
While the core symptoms of SNIBCPS are well-established, the inclusion of gastrointestinal symptoms such as pancreatic insufficiency in the phenotype spectrum warrants further investigation. This case suggests a possible novel association that may aid in the diagnosis of SNIBCPS and should encourage geneticists to consider broader symptom profiles when evaluating patients.

Conclusion
This report contributes to the understanding of Snijder Blok-Campeau syndrome by documenting a novel presentation of pancreatic insufficiency in a patient with CHD3 mutation. Further research is necessary to elucidate the potential links between SNIBCPS and gastrointestinal disorders, which could refine diagnostic criteria and clinical management strategies for affected individuals.

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