Alagille syndrome: an orphan disease in Colombia and summary of recent advances in treatment and survival - a case report.

Alagille syndrome has been described as a multisystemic clinical spectrum caused by an autosomal dominant genetic disorder. Although it is estimated that there is 1 case per 100 000 live births, the prognosis for survival and quality of life for these patients is varied but tends to be negative. In Colombia, this condition is considered an orphan disease with difficult management due to the lack of specialized centers that have all the medical specialties and subspecialties. Some reports state that no more than 30 cases have been published in this country. Materials and methods: The authors report a case of a male baby who, at 8 days old, he was taken to the general practitioner's outpatient clinic for persistent jaundice. At 3 months of age, he was reviewed by the pediatric gastroenterology department, which requested liver and biliary tract scintigraphy, showing atresia of the biliary tract, hepatomegaly, and the absence of a gallbladder. Results: Liver transplantation is the definitive solution. However, in low- and middle-income countries, where there are no well-established organ transplantation programs, the prognosis for these patients is presumed to be worse. Conclusion: Alagille syndrome is a rare disease that requires an accurate and early diagnosis and timely multidisciplinary management to reduce the impact of multisystemic complications. It is necessary to advance in transplant programs in low- and middle-income countries, to provide a solution to cases where there are no other therapeutic alternatives, and to contribute to the quality of life of the affected patient.

Huge gastric trichobezoar caused by involuntary nocturnal trichophagia and trichotillomania in a female adolescent.

INTRODUCTION AND IMPORTANCE: Gastric trichobezoar consist of the accumulation of chewed hair in the stomach and can extend to other structures of the digestive tract. The relevance of this entity is that it affects the process of nutrition and digestion, and depending on the size and distension of the digestive tract structures, it can cause perforation, infections, cholangitis and obstructive jaundice, intussusception and pancreatitis. CASE PRESENTATION: We present the case of a 15-year-old female patient came to the emergency department with a clinical picture of 8 h of evolution, abundant vomiting and lack of appetite for more than 15 days. Physical examination revealed a palpable mass in the epigastrium and left hypochondrium, without pain. Elective laparotomy was performed with findings of a mass of hard consistency and well organized with gastric shape, with hairs intertwined throughout its thickness, weighing 385 g. CLINICAL DISCUSSION: Currently, there are gaps in the evidence on the best approach to this condition, although both laparoscopic and endoscopic techniques and open surgery have been used, with satisfactory results. However, for the definitive solution of the primary cause, the surgical team must investigate further to avoid recurrence and greater burden of disease in the future. CONCLUSION: Gastric trichobezoar may be caused by involuntary nocturnal trichotillomania. Trichobezoar can seriously compromise the nutritional and physical condition of the affected person. The surgical team can inquire about causes of psychological or psychiatric origin, which may explain the development of trichobezoar, giving an answer to the primary cause and avoiding recurrence.