ABSTRACT
We present a case of a three-year-old girl with a rare genetic epilepsy with developmental delay. She was born to a non-consanguineous parentage and required resuscitation soon after delivery via cesarean section. The patient had her first seizure within 36 hours of life, which progressed into refractory epilepsy. She required multiple hospital admissions due to prolonged seizures. Despite being tried on multiple drug combinations over the years, she responded only to phenytoin. Basic imaging and other investigations, including genetic analysis, revealed a fibroblast growth factor 12 (FGF12) mutation. Mutations in these genes cause refractory early-onset seizures associated with severe developmental delay. Due to early and appropriate intervention with phenytoin, she had good seizure control which probably resulted in a better developmental outcome.
ABSTRACT
A 63-year-old male with multiple co-morbidities presented with a diabetic foot infection which was treated surgically. During admission to the hospital, he developed melena and underwent an endoscopic assessment which revealed an incidental finding of an ampullary mass. The histological analysis of the biopsy revealed ampullary carcinoma with mixed intestinal-type and pancreatobiliary-type features. A magnetic resonance imaging (MRI) of the liver with contrast presented the tumor as an ill-defined small soft tissue lesion measuring 8 x 9 mm in the ampullary region, with multiple lymph nodes in the periportal, peripancreatic, and para-aortic regions. There was no evidence of biliary obstruction. The patient underwent a Whipple procedure with no complications. The final histology report of the specimens taken stated that the tumor is predominantly in the duodenum and focally in the ampulla, and is a well-differentiated neuroendocrine tumor confirmed to be submucosal. The histopathologic and radiologic workup determined the pathological stage classification to be pT3N1, Mx G1.
ABSTRACT
Schwannomas are relatively slow-growing benign tumors of the nerve sheath. Approximately 25-40% of schwannomas occur in the head and neck region. However, schwannomas that present in the oral cavity are relatively rare, constituting around 1% of all described cases in the head and neck region. We report a case of a 20-year-old female who was found to have an intraoral palatal schwannoma. The patient presented with a painless swelling located on the right side of the soft palate. Investigations and management were commenced, and a computed tomography (CT) scan with contrast was done, which revealed cystic changes in a large soft palate mass lesion with a heterogeneous enhancement. The mass was surgically excised and sent for histopathological examination. The diagnosis of schwannoma was made due to the presence of the characteristic Antoni A and Antoni B areas. The immunohistochemical study done was positive for protein S-100. The postoperative follow-up went uneventful.
