A Rare Case of Gorlin-Goltz Syndrome Presented to the Emergency Department as Facial Swelling.

INTRODUCTION: Gorlin-Goltz syndrome (GGS), also known as basal cell nevus syndrome, is a very rare autosomal dominant inherited disorder that is characterized by the development of numerous basal cell carcinoma. This article reports a case of GGS, emphasizing its clinical and radiographic manifestations. CASE PRESENTATION: We report here the case of a 35-year-old man who visited the maxillofacial emergency department due to left facial swelling. According to his clinical and radiographic examination we diagnosed him with GGS with no family history. The patient has multiple odontogenic keratocysts, rib anomalies, calcifications of the falx cerebri, lower jaw prognathism, frontal bossing, macrocephaly, and thick eyebrows. CONCLUSION: A definitive diagnosis of GGS should be made by a multidisciplinary team including a maxillofacial surgeon and medical specialists. Early diagnosis, treatment, and regular follow up are important to decrease complications, including oromaxillofacial deformation and destruction, and possible malignancy.

A Rare Case of Isolated Lower Segment Transverse Sacral Fracture in a 12-Year-Old Girl and Its Management by Fixation with K-Wire.

BACKGROUND: Isolated lower segment sacral fracture is very rare. To the best of our knowledge, there is only one case report of S4 stable fracture that was treated conservatively. CASE DESCRIPTION: Here, we report a 12-year-old girl who sustained an isolated S5 fracture with anterior displacement of S5 and coccyx on S4. The patient initially was managed conservatively 1 month and 25 days. On the failure of this treatment procedure, the patient was treated surgically by partial coccygectomy with S4-S5 fixation after reduction by 2 K-wires. CONCLUSIONS: Sacral fracture is difficult to diagnose, especially when the patient has multiple injuries. This is because the emergency doctor may not perform a neurologic examination of the perineum and may miss its diagnosis. Another reason for its misdiagnosis is that the routine anteroposterior plain X-ray may not detect it. Trauma patients with sacrococcygeal pain and tenderness should raise concerns about sacral fracture, and a lateral plain X-ray and/or computed tomography of the sacrococcygeal spine should be performed. Neurologic deficit is rare in lower sacral segment fracture; hence, a trial of conservative management (same as for coccygeal fracture) should be tried first. If the patient does not respond and there is displacement, surgical intervention can be used, because it has a very good response from the patient. In the presence of a neurological deficit, however, surgical intervention should be attempted as soon as possible.

Upper Lumbar Mature Cystic Teratoma: A Case Report.

BACKGROUND: Intradural extramedullary spinal teratoma (IEST) is a rare condition in adults, with a male predominance. It is commonly associated with spinal dysraphism, lumbar puncture, and previous spinal surgery. This case is a 37-year-old male diagnosed with a mature cystic IEST without dysraphism or previous surgical interventions. CASE DESCRIPTION: The patient's symptoms included a lumbar backache that progressed to the toes, as well as the anterior region of both thighs. Subsequently, he could not walk for >3 minutes and experienced saddle paresthesias, heaviness, and numbness in both lower limbs. The teratoma was diagnosed by magnetic resonance imaging (MRI), which showed a mixed signal intensity mass with a fatty component in the conus medullaris at the L1-L2 level. The treatment strategy included total surgical excision of the teratoma, followed by histopathological examination, at which the mass was diagnosed as a mature cystic teratoma. On postoperative follow-up, the patient reported urinary and fecal incontinence. Neurologic examination of both the lower limbs revealed hyperreflexia of the left knee and atrophy of the left calf muscles, but no residual mass at the site of surgery. CONCLUSIONS: MRI is a standard tool for diagnosing IEST, but the diagnosis is confirmed by histopathological examination. Total surgical excision is the treatment of choice, but when adhesions to the neural tissue are present, subtotal excision should be attempted. The patient should be followed up with serial clinical and radiologic examinations to ensure the absence of residual mass at the site of surgery.