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.

Linfedema primario en miembro superior asociado a síndrome de Klippel-Trénaunay (displasia angiectasia congénita) / Primary upper limb lymphedema associated with Klippel-Trénaunay syndrome (congenital dysplastic angiectasia)

Se presenta el caso de una paciente de 41 años que se diagnostica de flebolinfedema primario con localización en miembro superior izquierdo asociado a síndrome de Klippel-Trénaunay, que no presentó manifestación clínica hasta los 37 años de edad, momento de aparición de la tríada clínica característica de angiomas cutáneos, varicosidades e hipertrofia de los tejidos blandos. La relevancia de este artículo radica en que se trata de una enfermedad rara y congénita, que se manifiesta en la infancia o adolescencia, con afectación más frecuente en miembros inferiores. Su etiopatogenia es aún desconocida, surgiendo casos esporádicos, aunque se cree que podría ser debido a una alteración en el desarrollo del mesodermo en el feto, que afecta a las líneas angioblásticas, linfoblásticas y osteoblásticas. Es importante conocer los diferentes signos clínicos para un diagnóstico y tratamiento precoz, el cual suele ser sintomático y la rehabilitación constituye un pilar fundamental dentro del tratamiento multidisciplinar (AU)

The case is presented of a 41 years old patient with primary lymphedema diagnostic in her left upper limb associated with Klippel-Trénaunay syndrome, who did not present any clinical manifestations until 37 years old, time of appearance of the characteristic clinical triad of cutaneous angiomatosis, varicose veins and hypertrophy. The relevance of this article is that it is a rare and congenital disease. This syndrome usually manifests in childhood or adolescence with more frequent involvement of the lower limbs. Its etiopathogeny is still unexplained, emerging sporadic cases, although it is believed it could be due to fetal's mesoderm development alteration, which affecting angioblastic, lymphoblastoid and osteoblastic lines. The importance of an early correct diagnosis and its symptomatic treatment, where rehabilitation has a fundamental role within the multidisciplinary approach is emphasized (AU)