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,...
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| Format: | Article |
| Language: | English |
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BMC
2024-03-01
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| Series: | Journal of Medical Case Reports |
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| Online Access: | https://doi.org/10.1186/s13256-024-04374-w |
| _version_ | 1797266791092715520 |
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| author | Zeeshan Ullah Ayesha Zafar Hira Ishaq Zainab Umar Amir Khan Yaseen Badar Nizamud Din Muhammad Fawad Khan Pamela McCombe Nemat Khan |
| author_facet | Zeeshan Ullah Ayesha Zafar Hira Ishaq Zainab Umar Amir Khan Yaseen Badar Nizamud Din Muhammad Fawad Khan Pamela McCombe Nemat Khan |
| author_sort | Zeeshan Ullah |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-25T01:06:18Z |
| format | Article |
| id | doaj.art-c24c34f882634284b0066fc338866fd7 |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-04-25T01:06:18Z |
| publishDate | 2024-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-c24c34f882634284b0066fc338866fd72024-03-10T12:13:53ZengBMCJournal of Medical Case Reports1752-19472024-03-011811610.1186/s13256-024-04374-wTransient binocular vision loss and pain insensitivity in Klippel–Feil syndrome: a case reportZeeshan Ullah0Ayesha Zafar1Hira Ishaq2Zainab Umar3Amir Khan4Yaseen Badar5Nizamud Din6Muhammad Fawad Khan7Pamela McCombe8Nemat Khan9Department of Neurology, Lady Reading HospitalDepartment of Neurology, Lady Reading HospitalDepartment of Neurology, Lady Reading HospitalDepartment of Neonatology, Pakistan Institute of Medical SciencesDepartment of Neurology, Lady Reading HospitalDepartment of Neurology, Lady Reading HospitalDepartment of Neurology, Lady Reading HospitalDepartment of Neurology, Lady Reading HospitalFaculty of Medicine, UQ Centre for Clinical Research, Royal Brisbane and Women’s Hospital, The University of QueenslandCollege of Medicine and Health Science, Khalifa University of Science and TechnologyAbstract 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.https://doi.org/10.1186/s13256-024-04374-wCase reportCervical vertebral abnormalitiesCongenital insensitivity to pain (CIP)Klippel–Feil syndrome (KFS)Optic disc edemaRare congenital disorder |
| spellingShingle | Zeeshan Ullah Ayesha Zafar Hira Ishaq Zainab Umar Amir Khan Yaseen Badar Nizamud Din Muhammad Fawad Khan Pamela McCombe Nemat Khan Transient binocular vision loss and pain insensitivity in Klippel–Feil syndrome: a case report Journal of Medical Case Reports Case report Cervical vertebral abnormalities Congenital insensitivity to pain (CIP) Klippel–Feil syndrome (KFS) Optic disc edema Rare congenital disorder |
| title | Transient binocular vision loss and pain insensitivity in Klippel–Feil syndrome: a case report |
| title_full | Transient binocular vision loss and pain insensitivity in Klippel–Feil syndrome: a case report |
| title_fullStr | Transient binocular vision loss and pain insensitivity in Klippel–Feil syndrome: a case report |
| title_full_unstemmed | Transient binocular vision loss and pain insensitivity in Klippel–Feil syndrome: a case report |
| title_short | Transient binocular vision loss and pain insensitivity in Klippel–Feil syndrome: a case report |
| title_sort | transient binocular vision loss and pain insensitivity in klippel feil syndrome a case report |
| topic | Case report Cervical vertebral abnormalities Congenital insensitivity to pain (CIP) Klippel–Feil syndrome (KFS) Optic disc edema Rare congenital disorder |
| url | https://doi.org/10.1186/s13256-024-04374-w |
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