71 CONGRESO AEP. Libro de comunicaciones

609 ISBN: 978-84-09-79209-2 ÁREA DE ESPECIALIDAD (MEDICINA PEDIÁTRICA)  NEUROLOGÍA PEDIÁTRICA #1958 PÓSTER ELECTRÓNICO Diagnosing through imaging: unravelling clues from visual findings Inês Pereira Soares, Madalena Torrado Malato, Inês Azevedo Carvalho, Tânia Carvalho Hospital de Vila Franca de Xira, Portugal INTRODUCCIÓN Delayed motor development is a prevalent concern in a practice, often prompting referrals to general paediatricians and subspecialists. The degree and potential long-term outcomes of motor delays can vary significantly. RESUMEN DEL CASO A 15-month-old boy, with no significant medical history, was referred to a hospital consultation by his primary care physician for evaluation of delayed motor milestones. The child had not yet initiated crawling, remained seated and immobile, and did not attempt to change positions. He was primarily cared for by a nanny, who facilitated play and so- cial interaction with peers. On physical examination, the child exhibited excellent interaction. Upper limb tone was within normal limits, while the lower limbs demonstrated clear hypotonia, with limited spontaneous movement and hyperreflexia of the patellar reflexes. In the prone position, there was evident weakness in the lower limb musculature. While the child was able to stand upright, he was unable to lift his feet. There was no family history of similar concerns. He started physical therapy, and a brain MRI was requested. It revealed small, symmetrical, triangular areas of T2/FLAIR hyperintensity in the periventricular region adjacent to the lateral walls of the frontal horns of the lateral ventricles, likely representing granular ependymitis (a benign normal variant) or the “lynx ear” sign. Genetic counselling and tes- ting were recommended. At the follow-up visit at 21 months, the child demonstrated improved strength in the lower extremities, however had not yet achieved ambula- tion and continued to display hyperreflexia. CONCLUSIONES Y COMENTARIOS Although the MRI findings may represent a normal ana- tomical variant, they cannot be overlooked as the “lynx ear” sign is highly suggestive of hereditary spastic paraplegia. This condition is typically inherited in a familial pattern, though isolated cases have been documented. While gene- tic testing results are pending this case underscores the importance of intervention, even in the absence of a defini- tive diagnosis, as it may impact the trajectory of the condi- tion. Early MRI evaluation is therefore indispensable for children presenting with motor delays and neurological sig- ns, as it can provide crucial information for timely and targe- ted management strategies. Although diagnosis is para- mount, referral to multidisciplinary teams for early intervention is essential to optimizing outcomes.