RESUMEN
CASE: An abdominal aortic aneurysm is rarely seen in children. We report the case of a 15-year-old girl who presented with lower back pain in a subfebrile setting with moderate biological inflammatory syndrome. Imaging assessment, including a spinal magnetic resonance imaging, had shown no evidence of spondylodiscitis or other spinal or renal pathology. Ten days later, she presented in hemorrhagic shock and was found to have a ruptured infected aneurysm of the abdominal aorta. CONCLUSIONS: This case reminds us to include an aneurysm in the differential diagnosis of lower back pain, even in children.
Asunto(s)
Aneurisma de la Aorta Abdominal , Discitis , Dolor de la Región Lumbar , Adolescente , Aorta Abdominal/diagnóstico por imagen , Aorta Abdominal/patología , Aneurisma de la Aorta Abdominal/complicaciones , Aneurisma de la Aorta Abdominal/diagnóstico por imagen , Niño , Femenino , Humanos , Dolor de la Región Lumbar/etiología , Imagen por Resonancia MagnéticaRESUMEN
The aim of this article is to describe the first case of Hutchinson-Gilford Progeria Syndrome (HGPS) in Togo and review all Africans cases. Our patient was a 12.8-year-old Togolese boy followed in our unit till he was 15-year-old for HGPS. He was the only child of non-consanguineous parents. The phenotypic findings were craniofacial dysmorphy, dwarfism, lipodystrophy, diffusely scattered hyperpigmented foci, pyriform thorax, nail dystrophy, decreased joint mobility, and camptodactyly. He had characteristic facies with prominent forehead, prominent eyes, absent ear lobule, thin nasal skin, convex nasal profile, micrognathia, and crowded teeth. Radiologicals findings were bilateral coxa valga, pyriform thorax, and acro-osteolysis. We sequenced the entire coding region of LMNA gene, and mutation analysis revealed a heterozygous mutation c.1824C>T (p.Gly608Gly). Our patient is therefore the fifth African and the fourth with classical mutation, first of Western Africa, and second of (sub-Saharan) African black race. The recurrence of HGPS is low like the cause is neomutation or germinal mosaicism.
Asunto(s)
Anomalías Craneofaciales/genética , Predisposición Genética a la Enfermedad , Lamina Tipo A/genética , Progeria/genética , Adolescente , Niño , Anomalías Craneofaciales/patología , Enanismo/genética , Enanismo/patología , Humanos , Lipodistrofia/genética , Lipodistrofia/patología , Masculino , Progeria/patologíaRESUMEN
The congenital epulis is a benign congenital granular cell tumor arising most often of the alveolar ridge of the jawbone. When giant, it is source of digestive discomfort disabling feeding. We report the case of a newborn female, vaginal delivery, presented with a giant intraoral tumor. Tumor obstructing the mouth of the newborn and prevent the attachment and feeding. The treatment consisted of excision of the tumor under general anesthesia. The histology of the tumor was revealed that it was an epulis.
