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INTRODUCTION: Spondyloenchondrodysplasia (SPENCD) is a rare autosomal recessive skeletal dysplasia caused by acid phosphates 5 gene mutation. SPENCD has multisystemic manifestations including enchondromas in the long bones or pelvis, skeletal anomalies, immune dysfunctions, and neurological impairments. Out of the wide spectrum of presentation in SPENCD, hearing loss is one of the least presented symptoms. CASE PRESENTATION: Here we present a two-year-old female, who visited the otolaryngology clinic concerned about hearing and delayed speech. The patient was started on hearing aids, later was diagnosed with SPENCD by pedatrics department. After a discussion with the family, the patient underwent a bilateral cochlear implant for sensorineural hearing loss at the age of four, which went uneventfully. CLINICAL DISCUSSION: Children with skeletal dysplasias have abnormal tympanometry indicating a higher likelihood of middle ear disease and conductive hearing loss. A result of a hearing screening program done in 2010 showed that 25 % of children with skeletal dysplasia have hearing loss at least in 1 ear, and 50 % of them had abnormal tympanometry featuring middle ear dysfunction. Uncontrolled immune system response in autoimmune diseases commonly causes bilateral SNHL. However, the exact defect, in this case, is still unknown if it is cochlear or central. CONCLUSION: The objective of this report is to highlight the unusual presentation of profound sensorineural hearing loss in a pediatric case with SPENCD that was managed with cochlear implants.
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Ingested foreign objects that become trapped in the upper aerodigestive tract is a common issue that arises in Otolaryngology-Head and Neck Surgery practice. In these circumstances, it is advised to explore the neck using an external method to remove the item. However, locating the foreign body might be challenging. Not all metallic foreign body (MFB) patients require surgery, especially those without symptoms or complications. The standard X-ray and CT images are routinely examined for preoperative assessment and localization. Removal can be accomplished via flexible pharyngo-laryngoscopy or upper gastrointestinal endoscopy. Fluoroscopy is a widely accessible, minimally invasive, but underutilized tool during procedures. It offers an accurate intraoperative assessment of the foreign body in real-time. To allow the planning of a secure extraction pathway, the target should be radiopaque. In this report, we present three unique cases in which we used fluoroscopic imaging for guidance to remove a foreign body in the head and neck region in Prince Sultan Military Medical City in Riyadh, Saudi Arabia. In the first case, a young male presented with a history of foreign body sensation and odynophagia in the throat after eating a (shawarma) sandwich. In the second case, a six-year-old boy presented to the emergency department (ED) with epistaxis after being exposed to an air gun shot to his face. In the third case, a 40- year-old male presented after exposure to an air gun shot to the neck. After identification of the foreign body, all three patients were referred to Otolaryngology-Head and Neck. After radiological images have been done to confirm the presence of foreign objects, all three had a minimally invasive procedure to remove the metallic foreign bodies under fluoroscopic guidance without needing extensive surgery. All the procedures went well with no immediate complications with discharge on the same day. Fluoroscopy-guided removal of foreign bodies related to metabolic forging is a promising technique with several advantages, including real-time visualization, reduced invasiveness, and shorter recovery times. However, it is essential to weigh the benefits against the risks associated with radiation exposure and inherent limitations in detecting non-metallic objects. Further research and clinical studies are needed to optimize this technique and establish evidence-based guidelines for its application in the field of metabolic forging bodies.
