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

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.

Unidentified Intracranial Foreign Body in an Epileptic Child: Infanticide or Child Abuse?

Although intracranial foreign bodies are typically associated with penetrating injuries or surgical interventions, they can also occur as a result of rare instances of child abuse. Enduring such abuse and neglect as an infant can lead to life-long neurological problems, developmental delays, and impairments. The present case involved a 14-year-old male adolescent who was brought to the emergency room due to recurrent generalized tonic seizures. A computed tomography (CT) scan revealed a ring-like metallic object within the right temporal lobe. The neurosurgeon declined the surgical removal of the object due to its position and orientation, as well as the patient's guardian's refusal to consent to surgery. Instead, drug treatment and care are advised. In infants, foreign objects are typically inserted through cranial sutures, fontanelles and less frequently into the orbits, often with the intention of harming unwanted children. However, no history of such an attempt is present in this case. The incidental discovery of intracranial foreign bodies typically occurs during investigations when patients present with neurological symptoms such as epileptic seizures (foreign body-induced epilepsy). The selection of an ideal treatment regimen is often challenging in such cases. If a patient can be effectively treated with drugs, surgical removal is usually avoided.