Chronic Myeloid Leukemia Presenting With Bilateral Optic Neuropathy and Sensorineural Hearing Loss as the First Clinical Presentation: A Case Report

Abstract

Chronic myeloid leukemia (CML) is a myeloproliferative disorder that commonly manifests in chronic, accelerated, or blast phase. Typically observed in individuals aged 60-65 years, CML is infrequently diagnosed in adolescents. The usual presentation in late adulthood involves nonspecific symptoms such as fever, fatigue, and weight loss, with rare reports of initial neurological involvement. A 17-year-old male presented with bilateral vision loss and profound hearing loss, alongside a medical history marked by fever, night sweats, and weight loss. A positive tuberculosis contact raised suspicions of tuberculous meningitis, while cervical and inguinal lymphadenopathy suggested the possibility of neurosarcoidosis. Despite clinical signs pointing toward a neurological cause, elevated white blood cell (WBC) count, a bone marrow biopsy, and the identification of BCR-ABL translocation through chromosomal analysis surprisingly revealed a diagnosis of CML in the chronic phase. This case underscores the importance of considering hematological malignancy as a differential in cases of multiple cranial neuropathies, especially if supported by systemic symptoms. Understanding the diverse presentations of CML is essential for clinicians to provide timely and appropriate interventions particularly in young patients where it could mimic other neurological disorders leading to diagnostic challenges and delay in treatment initiation.

Keywords: adolescent; chronic myeloid leukemia; cranial neuropathy; optic neuropathy; sensorineural hearing loss; vision loss.

Figure 1

(a) Bone marrow aspirate showing hypercellularity and myeloproliferation with prominence of myelocytes and metamyelocytes. Myeloid: Erythroid ratio is increased. (b) Peripheral smear showing marked leukocytosis with left shift. A spectrum of myeloid cells is seen with a predominance of myelocytes.

Figure 2

(a, b) Pure tone audiogram depicting profound sensorineural hearing loss in both ears. (c) Fundoscopy image of right eye showing deep retinal hemorrhages (green arrow), blurring of optic disc margins with obscuration of all vessels on disc suggestive of Grade V papilledema (red arrow) and pale retina as compared to other segments of retina secondary to vessel occlusion (blue arrow).

Figure 3

Timeline of events.