Abstract
Sickle cell disease (SCD) is a multisystem disorder often leading to serious complications like avascular necrosis (AVN), pulmonary embolism (PE), and numb chin syndrome (NCS) during vaso-occlusive crises. While well-known complications such as stroke and acute chest syndrome are frequently encountered, rare manifestations, including NCS, often remain underdiagnosed. A 32-year-old male with SCD presented with severe lower back pain and dyspnea. On arrival, he had tachycardia and hypoxia, requiring oxygen support and extensive analgesic support. Laboratory results showed anemia, leukocytosis, and elevated D-dimer. CT pulmonary angiography (CTPA) confirmed segmental pulmonary embolism, while magnetic resonance imaging (MRI) of the hips demonstrated AVN of the bilateral femoral heads. During his hospital stay, the patient also developed gradual numbness of the chin and lower lip, raising concern for NCS. Although MRI of the head was inconclusive, the patient's improvement after exchange transfusion suggested - but did not confirm - vaso-occlusive involvement as a potential cause. Treatment included analgesia, anticoagulation for PE, and exchange transfusion, resulting in symptomatic relief, especially for neurological symptoms. A multidisciplinary follow-up plan was arranged to ensure comprehensive care. SCD-related vaso-occlusion can lead to life-threatening complications, including PE and AVN, both of which were confirmed with imaging in this case. NCS is an important neurological manifestation in sickle cell crisis. Although imaging did not confirm NCS, the patient's specific symptoms and response to exchange transfusion support the likelihood of vaso-occlusive involvement. This highlights the limitations of standard imaging in diagnosing NCS and suggests the need for further specialized imaging techniques, such as contrast-enhanced MRI of the mandible or PET scans, to confirm the diagnosis. This case underscores the importance of recognizing atypical manifestations in SCD, such as NCS, emphasizing the need for a multidisciplinary approach to manage complications like AVN, PE, and NCS, to prevent further morbidity.