PATIENTSāS 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.