Introduction: Treacher Collins syndrome (TCS) is a congenital craniofacial morphogenesis disorder of autosomal dominant inheritance, which symptoms vary greatly ranging from almost unnoticeable to severe. The most common clinical features include hypoplasia of the malar bones and the lower jaw, antimongoloid slanting of palpebral fissures, and ear abnormalities. Imaging, especially computed tomography (CT), enables both a quantitative and qualitative analysis of the malformations, allowing the diagnosis and the planning of surgical interventions.Case Report: We report a case of a fully expressed Treacher Collins syndrome in a 3-month-old male child brought by his mother for dental malocclusion causing difficulties in breastfeeding. The examination revealed hypertelorism with antimongoloid slanting of palpebral fissures, hypoplasia of the malar and zygomatic bones, the mandible, and a microtia with no external auditory canal identified. The CT of the facial area revealed bilateral and symmetrical hypoplasia of the zygomatic bones, the mandible, the maxillary bones, and the temporal bone with agenesis of the bony external auditory canals. Conclusion:Treacher Collins syndrome is a malformative craniofacial congenital disorder that can be well managed if the diagnosis is done early.
Lhermitte-Duclos disease, also known as dysplastic gangliocytoma of the cerebellum, is an extremely rare cerebellar tumor characterized by an enlargement of cerebellar folia. Its etiology remains controversial. Imaging modalities, especially magnetic resonance imaging, contribute to establish a correct and accurate diagnosis with pre and postoperative assessment. The characteristic "tiger striping" appearance is pathognomonic. The recognition of this unusual and benign condition is particularly important, given the possible association with Cowden's syndrome and therefore the need to identify concurrent malignancies.To our knowledge, we describe a rare and unique presentation of histologically proven Lhermitte-Duclos disease associated with a frontal encephalocele surgically treated.
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