Volume 79 - 2016 - Fasc.4 - Case series
Navajo Neurohepatopathy : A Case Report and Literature Review Emphasizing Clinicopathologic Diagnosis
Navajo Neurohepatopathy (NNH) is a rare hepatocerebral mitochondrial DNA (mtDNA) depletion syndrome (MDS) with nonspecific clinical or pathologic features aside from Navajo ancestry. Because of the rarity of NNH, diagnosis rests on close clinicopathologic correlation and appropriate tissue triage for quantitative mtDNA analysis. We present a new case of NNH in which the clinical presentation and H&E liver biopsy histology indicated the need for NNH workup. Quantitative analysis of mtDNA in liver tissue was significantly reduced, and mutational analysis of the MPV17 gene confirmed homozygosity for the NNH- associated missense mutation, R50Q. The patient is now one year post liver transplant and continues to have normal liver function tests but suffers multiple immunosuppression-associated co- morbidities. A comprehensive literature review is provided to assist in diagnosis and management of NNH. (Acta gastroenterol. belg., 2016, 79, 463-469).
Gastroesophageal junction and gastroesophageal junction carcinoma : a short update
Cancer of the gastroesophageal junction (GEJ), although rare, is now considered a separate entity with a distinct pathophysiological and molecular profile. Although much progress has been made over the past decades in delineating the multiple environmental and genetic pathways involved GEJ carcinoma, the exact molecular mechanisms underlying disease initiation and progression are still poorly understood. This is of paramount importance for the treating physician as the disease bears a poor therapeutic response. This review defines the GEJ and types of GEJ carcinoma, and provides useful insight in its pathophysiology. Future aspects include better understanding of GEJ oncogenesis, early detection of precursor lesions, the use of biomarkers and targeted therapy (through molecular profiling) so as to increase overall survival. (Acta gastroenterol. belg., 2016, 79, 471-479).
Gastro-intestinal manifestations in cystic fibrosis patients
Cystic fibrosis (CF) is a life-limiting disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR). This defective chloride channel, present in different organ systems such as respiratory system, gastrointestinal tract, reproductive system and sweat glands, disturbs the ion and water transport over the membranes leading to the well known CF symptoms.
CF has outgrown paediatric care, as half of CF patients are currently adults. The CF gastrointestinal tract has its own particularities. Some gastrointestinal manifestations are the direct consequence of the CFTR defect whilst others are secondary to treatment.
The gastrointestinal diseases are classified according to the way they usually present in symptoms at diagnosis, acute and chronic abdominal pain and silently evolving conditions. (Acta gastroenterol. belg., 2016, 79, 481-486).