Transient binocular vision loss and pain insensitivity in Klippel-Feil syndrome: a case report

Abstract

Background: Klippel-Feil syndrome is a rare congenital bone disorder characterized by an abnormal fusion of two or more cervical spine vertebrae. Individuals with Klippel-Feil syndrome exhibit diverse clinical manifestations, including skeletal irregularities, visual and hearing impairments, orofacial anomalies, and anomalies in various internal organs, such as the heart, kidneys, genitourinary system, and nervous system.

Case presentation: This case report describes a 12-year-old Pashtun female patient who presented with acute bilateral visual loss. The patient had Klippel-Feil syndrome, with the typical clinical triad symptoms of Klippel-Feil syndrome, along with Sprengel's deformity. She also exhibited generalized hypoalgesia, which had previously resulted in widespread burn-related injuries. Upon examination, bilateral optic disc swelling was observed, but intracranial pressure was found to be normal. Extensive investigations yielded normal results, except for hypocalcemia and low vitamin D levels, while parathyroid function remained within the normal range. Visual acuity improved following 2 months of calcium and vitamin D supplementation, suggesting that the visual loss and optic nerve swelling were attributed to hypocalcemia. Given the normal parathyroid function, it is possible that hypocalcemia resulted from low vitamin D levels, which can occur after severe burn scarring. Furthermore, the patient received a provisional diagnosis of congenital insensitivity to pain on the basis of the detailed medical history and the findings of severe and widespread loss of the ability to perceive painful stimuli, as well as impaired temperature sensation. However, due to limitations in genetic testing, confirmation of the congenital insensitivity to pain diagnosis could not be obtained.

Conclusion: This case highlights a rare presentation of transient binocular vision loss and pain insensitivity in a patient with Klippel-Feil syndrome, emphasizing the importance of considering unusual associations in symptom interpretation.

Keywords: Case report; Cervical vertebral abnormalities; Congenital insensitivity to pain (CIP); Klippel–Feil syndrome (KFS); Optic disc edema; Rare congenital disorder; Transient vision loss.

Fig. 1

T2-weighted imaging of cervical spine of a 12-year-old female patient born with KFS (Type III). (A) Saggital view indicating hemivertebrae at the C4–C5 levels and hemivertebrae with fusion at the C7, D1, and D2 levels. (B) Coronal view showing hemivertebrae with fusion at the C7, D1, and D2 levels (red arrows indicating fused vertebrae)