Abstract

Introduction: Pai Syndrome is a rare condition characterized by midline craniofacial anomalies. The occur rence of encephalocele has been described but is not shared. The signs of the triad include cleft lip, skin polyps on the face, and lipoma in the central nervous system. The aim here is to present a case of a patient diagnosed with Pai Syndrome in association with encephalocele.

Case Presentation: A patient aged three years and five months old had a frontal encephalocele treated by surgery in October 2020at another health service. After genetic evaluation, the diagnostic hypothesis of Pai Syndrome was obtained. This syndrome includes agenesis of the corpus callosum, hypertelorism, and, in this case, frontal encephalocele. Before the surgery, the patient was assessed through clinical observation, and neuropsychomotor development, and behaviors within the normal range for her age group were observed. Postoperatively, the patient exhibited a favorable recovery but progressed with speech delay and is currently undergoing multidisciplinary treatment. These midline anomalies are directly related to embryological pro cesses that induce frontonasal dysplasia, and the association between encephalocele and hypertelorism is possible, as in this case report. Affected patients may also present symptoms later in life, such as delayed neuropsychomotor development.

Conclusion:According to the literature, delayed neuropsychomotor development symptoms can appear late. Despite good motor development and an excellent post- operative evolution, the patient evolved with delayed speech development. Thisreinforces the importance of multidisciplinary monitoring of patients with Pai Syn drome to minimize possible damage to quality of life.

DOI: doi.org/10.63721/25JACNR01102

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