Lai Kuan-chi,  Martinez-agosto Julian,  Chawla Soni,  Zipser Brian

Final Pr. ID: Poster #: CR-064

Optic nerve aplasia (ONA) is a very rare developmental anomaly characterized by absence of optic nerve, retinal ganglion, and optic nerve vessels. The majority of reported ONA cases are unilateral. The rarer cases of bilateral ONA are often associated with additional brain anomalies. ONA is considered distinct from optic nerve hypoplasia. Both environmental and genetic factors have been hypothesized to contribute to ONA, and several genetic mutations have been identified, including PAX6, OTX2, CYP26A1, or CYP26C1. We report a case of bilateral ONA in an otherwise healthy infant with mild hypoplasia of the corpus callosum without dysplasia, and macrocephaly.
A 13-month-old male presented for evaluation of macrocephaly and global developmental delay that was attributed to cortical blindness. He was born full-term without complications, however mother felt no fetal movement for one week prior to delivery. Abnormal roving eye movements were noted since the early neonatal period. There was no family history of any congenital diseases. Examination revealed conjugate non-purposeful rapid eye movements without nystagmus, bilateral lens opacification, and absence of the pupillary light response, startle reflex, and red reflex. The remainder of the physical exam was normal.
MRI of the brain and obits demonstrated absence of the bilateral optic nerves, optic chiasm, and the optic tracts. The globes were normal in size and appearance, although with the right minimally larger than the left. The corpus callosum was relatively thin, but intact, suggesting mild hypoplasia without dysplasia. In contrast to the majority of reported bilateral ONA cases that have associated CNS anomalies (polymicrogyria, corpus callosum agenesis, hypopituitarism, hydrocephalus, microphthalmus), our patient was only noted to have macrocephaly and mild hypoplasia of the corpus callosum. No other brain structural abnormalities were present. Initial genetics evaluation with a microarray was normal, therefore further testing with exome sequencing is planned. We report an extremely rare case of bilateral ONA in an otherwise healthy infant and review the literature for the associated radiologic and genetic findings. Read More

Authors:  Lai Kuan-chi , Martinez-agosto Julian , Chawla Soni , Zipser Brian

Keywords:  Optic nerve, aplasia, congenital

Pelizzari Mario,  Montalvetti Pablo,  Joulia Vulekovich Lara,  Musso Marcos

Final Pr. ID: Poster #: EDU-058

OBJECTIVES
The objective of this study is to describe and classify the different types of aplasia cutis using dermatological Doppler ultrasound, in an imaging diagnostics service. To demonstrate the ultrasound signs and different presentations of the pathology.

ABSTRACT
Aplasia cutis is a congenital anomaly characterized by the focal absence of one or more layers of the skin and, at times, underlying tissues such as bone or dura mater. It has an incidence of 3 in every 10,000 live births, and its etiology is unknown.
Its most frequent location is the scalp, although it can affect other parts of the body and be multifocal. Ultrasound and Doppler examination, using high-frequency probes, objectively assess the anatomical involvement and potential complications.

CONCLUSION
Given the clinical suspicion of aplasia cutis, ultrasound and Doppler imaging are valuable for diagnosis and monitoring complications. Read More

Authors:  Pelizzari Mario , Montalvetti Pablo , Joulia Vulekovich Lara , Musso Marcos

Keywords:  aplasia cutis, Doppler, Ultrasonography