Unilateral retinoblastoma, autism spectrum disorder and macrocrania in 13q deletion syndrome: a case report

Case presentation: The patient was the first child of healthy non-consanguineous parents. She a late preterm, infant diabetic mother and born in cesarean due to polyhydramnios. By age one year old, family noticed leukocoria right eye she diagnosed with unilateral retinoblastoma. Histopathological analysis compatible differentiated group D successfully treated primary enucleation chemotherapy vincristine, carboplatin etoposide. At 2 years submitted neurological consult language delay impairment communication skills. Primary revealed macrocrania (>2 SD Nellhaus), poor contact, nonverbal conversation skills, hand stereotypies. could only emit disyllables, had difficulty interacting other children, would engage parallel showed tactile hypersensitivity. normal motor development presented lower limb areflexia force chemotherapy-Induced peripheral neuropathy. Her exam prominent forehead, sharp face, big low set ears, smooth philtrum long fingers. Also, met autism spectrum disorder (ASD) criteria. MRI post-surgical site manipulation. A karyotype performed 46, XX, del(13)(q12q14).