PATIENTSā€˜S MEDICAL REPORTS
Patient 1 is a female, third child of non-consanguineous parents, born at term by cesarean section; her two siblings have a normal phenotype. Abdominal distension and no evacuation were detected in the first 24 hours after birth, and the diagnosis of Hirschsprung disease was made. In the clinical evaluation at 5 years old, she presented with global neuropsychomotor delay, facial dysmorphisms, nail dysplasia (hypoplastic), and clinodactyly. Hepatoblastoma was diagnosed at the age of four, being classified as Epithelial Subtype with a predominance of embryonal cells, PRETEXT IV, high-risk. The patient was submitted to the chemotherapy protocol SIOPEL6. She died before the surgical procedure.
Patient 2 is a male, third child of a consanguineous couple; his sister was born with congenital bilateral cataract, while his brother exhibited intestinal atresia-terminal ileus. The patient was born premature (28 weeks) and his mother, who presented gestational risk (cardiac defect and preeclampsia), died during his birth due to congestive heart failure. At birth, the patient underwent mechanical ventilation and was admitted to the intensive care unit for periventricular encephalomalacia, grade II intracranial hemorrhage on the right, seizures and sepsis. He was born with a syndromic phenotype, composed of congenital ileal atresia, bilateral cataract and sensorineural deafness. In the first 48 hours of age, the patient developed abdominal distension and vomiting. During laparotomy, intestinal atresia in the terminal ileum and a disconnected cecum were identified. Histopathological examination also revealed absence of ganglion cells in the rectum and sigmoid colon, consistent with Hirschsprung disease that was corrected surgically. The hepatoblastoma tumor was diagnosed at 25 months of age, classified as Fetal Epithelial Subtype, PRETEXT II, low risk. He was submitted to the chemotherapy protocol with cisplatin, doxorubicin and ifosfamide, followed by partial hepatectomy. Currently, the patient is in post-treatment follow-up. Further clinical details were published by Pinto et al. (2016) 20.