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

Discussion: Retinoblastoma is a pediatric ocular tumor caused by biallelic inactivation of the RB1 gene, located in 13q14.2. In 10% of those patients, this deletion also involves additional genes surrounding the RB1 genome, causing a rare contiguous gene deletion condition defined as 13q deletion syndrome. These patients manifest with heterogeneous phenotypes that correlates with the size and location of the deletion. Usually presents with increased risk of retinoblastoma, development disorders, including autism spectrum disorder (ASD) and craniofacial dysmorphism.

Final comments: We report a case of contiguous gene deletion condition defined as 13q deletion syndrome, characterized by unilateral retinoblastoma, macrocrania, facial dysmorphism and autism spectrum disorder criteria. Throughout this data, we aim to raise awareness to this genotype-phenotype and advocate periodic screening for retinoblastoma to patients with 13q deletion syndrome aiming to reduce the morbimortality related to this entity.

 

MissingLinkText

No conflict of interest has been declared by the author(s).

Publication History

Article published online:
18 September 2023