Radiology & Imaging Journal
Open AccessThe Role of Imaging in the Diagnosis of Bourneville-Lhermitte-Dercum Disease (Tuberous Sclerosis) in Bamako: A Case Report with Literature Review
Authors: TRAORE Ousmane, DIARRA Ouncoumba, KOUMA Alassane, THERA Abdrahamane, DIARRA Phylip, OWONA ESSOMBA Réné Stephane, BAGAYOKO Ousmane Lansenou, DIALLO Mahamadou, KEITA Adama Diaman.
Abstract
Introduction: Tuberous sclerosis complex (TSC) is a multisystem genetic disorder with autosomal dominant inheritance. The aim of our study was to evaluate the role of imaging in the diagnosis of this disease.
Case Report: We present the case of a 12-year-old boy referred to the radiology department of the "Les Etoiles" medical clinic for a brain CT scan due to febrile seizures. Clinical examination revealed angiofibromas on the face, symmetrically distributed around the nose, cheeks, forehead, and chin. Oral, dental, and ophthalmological examinations were normal. Brain CT scan, performed with and without contrast, revealed multiple calcified subependymal, periventricular (bilateral), and right cerebellar nodules. Abdominal ultrasound was normal. Based on these clinical and radiological findings, the diagnosis of tuberous sclerosis complex was established.
Conclusion: The diagnosis of tuberous sclerosis complex is based on the combination of suggestive clinical manifestations and characteristic radiological findings.
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