Susac syndrome in a patient with chronic myelocytic leukemia: Consequence or coincidence?

Purpose: In this study, we report a patient who presented with both chronic myelocytic leukemia (CML) and Susac syndrome (SS). Observations: A 45-year-old male diagnosed with CML in the blast phase sought consultation due to a deterioration in vision in his right eye. He also had hearing loss and severe migraneous headaches. Best corrected visual acuity was light perception and 20/20 in the right and left eyes, respectively. The slit lamp examination and intraocular pressure were within normal ranges for both eyes. Upon dilated fundoscopy, organized vitreous hemorrhage was observed in the right eye, while the left eye exhibited extensive sclerotic vessels with retinal neovascularization in the periphery. Ultrasound of the right eye showed tractional retinal detachment. Optical coherence tomography of the left retina showed thinning of the retina in temporal macula. Fluorescein angiography revealed a substantial nonperfused region in the peripheral left retina, accompanied by arterioarterial and arteriovenous collaterals, along with microaneurysms. MRI showed scattered foci of hyperintensity within the supratentorial white matter, mostly subcortical on T2-weighted and fluid-attenuated inversion-recovery. The patient received a diagnosis of SS and was subsequently referred to the neurology service for further assessment and potential treatment. Conclusion and importance: SS may manifest as a presentation of CML. It is advisable to conduct investigations for SS in CML patients experiencing neurological, ophthalmological, or otological symptoms.

Anophthalmia, Global Developmental Delay, and Severe Dysphagia in a Young Girl With 14q22q23 Microdeletion Syndrome.

14q22q23 microdeletion syndrome, also called Frias syndrome, is an extremely rare partial deletion of the long arm of chromosome 14 characterized by the anomalies of the pituitary gland, eyes, and hand/foot. Intellectual disability and facial dysmorphism are other common manifestations. Haploinsufficiency of the genes bone morphogenetic protein 4 (BMP4) and orthodenticle homeobox 2 (OTX2) accounts for most of the phenotypic abnormalities seen in these patients. There are only a few cases reported with Frias syndrome in the literature, and there are multiple variations present, which are not well recognized due to different set of genes involved. This case report presents the case of a young child with a deletion in 14q22.2q23.1 region containing both BMP4 and OTX2 genes as well as sineoculis homeobox homolog 1 (SIX1) and sineoculis homeobox homolog 6 (SIX6) genes. The case report illustrates the wide phenotypic findings associated with these genes along with additional unique findings that previously have not been commonly reported.

Ocular Findings Associated With Myelinated Retinal Nerve Fibers.

The case involves a five-year-old female patient with a myelinated retinal nerve fiber (MRNF) layer of the right optic disc. Although this is a rare, benign, and often asymptomatic condition, it is sometimes associated with ocular findings which require early detection and treatment. In this case, the patient presented with strabismus, high myopia, and amblyopia. She was found to have myelinated retinal fiber layer lesions of the superotemporal and inferotemporal retina of her right eye. This case report aims to demonstrate the importance of performing a thorough evaluation of MRNF in the pediatric patient as well as to increase awareness of this entity to avoid misdiagnosis.