With an incidence of 1 per 2,500-3,000 individuals, neurofibromatosis type 1 (NF1) is the most common autosomal dominant disorder in humans. NF1 is caused by germline mutations of the NF1 gene, but to date genotype-phenotype analyses have indicated no clear relationship between specific gene mutations and the clinical features of this disease, even among family members with the same mutation. The present study describes a case of two siblings with NF1 with the same genetic mutation but different clinical manifestations. The first patient was a female with iris Lisch nodules, an adrenal incidentaloma, Graves' disease, and skin manifestations, while the second patient, the first patient's younger brother, exhibited only skin neurofibromas and freckling. Further study is needed to reveal the molecular processes underlying gene expression and phenotypes. A better understanding of the genetics associated with NF1 will allow clinicians to detect complications earlier and provide better genetic counseling to NF1 families.
Female ; Gene Expression ; Genes, Neurofibromatosis 1* ; Genetic Counseling ; Genetics ; Germ-Line Mutation ; Graves Disease ; Humans ; Incidence ; Iris ; Neurofibroma ; Neurofibromatoses* ; Neurofibromatosis 1* ; Phenotype ; Siblings ; Skin ; Skin Manifestations

Colonoscopy is a widely used diagnostic and therapeutic intervention with an excellent safety profile. Although an intraperitoneal hemorrhage is a rare complication after colonoscopy, and usually associated with splenic injury or solid organ pathology, it is potentially serious and can be life-threatening. We report a rare case of spontaneous intraperitoneal hemorrhage after diagnostic colonoscopy without splenic injury or intra-abdominal abnormality, known as idiopathic spontaneous intraperitoneal hemorrhage. This case emphasizes that physicians should be aware of the emergence of acute abdomen after colonoscopy.
Abdomen ; Abdomen, Acute ; Colonoscopy ; Hemoperitoneum ; Hemorrhage ; Spleen