We report on two new patients, the propositus and his maternal uncle, with Lujan-Fryns syndrome (LFS). One presented with mild mental retardation and both patient had Marfanoid habitus and similar craniofacial anomalies (they had a long and narrow face, small mandible, high-arched palate, and hypernasal voice) as previously reported by Lujan et al. in 1984 and Fryns and Buttiens in 1987. One of our patients had agenesis of the corpus callosum as described by Lujan. The second patient had an ascending aortic aneurysm like the patient described by Wittine et al. 1999. Both patients showed similar behavior and psychiatric disorders. In addition, we reviewed the literature for the presence of psychopathology in LFS. After studying the 32 published cases and the 2 described in this article, we found that more than 90% of the patients present with some type of psychopathology, the most frequent being an autistic-like disorder. In our opinion, the agenesis of the corpus callosum (complete or partial) and ascending aorta aneurysm are manifestations of LFS, and thus brain MRI and echocardiogram should be part of the routine evaluation. Additionally, the high prevalence of psychopathological alterations in these patients suggests the need for psychiatric evaluation at the time of diagnosis.

Despite different clinical guidelines, AP is a common pharmacological strategy as it is shown in our study and in the reviewed literature. Data in our study indicate that the observed rates of AP cannot exclusively be attributed to the treatment of patients with clozapine-resistant schizophrenia.

The results of our study show that the use of amisulpride as an adjuvant can be a suitable therapeutic strategy for patients with schizophrenia resistant to treatment and for the rapid control of symptoms in schizophrenic patients with acute episodes. However, its clinical use does not have to be reserved exclusively for patients with resistant schizophrenia to clozapine.

Amisulpride augmentation, in a group of patients partially or non-responsive to olanzapine, may lead to an improvement in schizophrenic symptoms. However, these results are subject to several limitations making it difficult to derive firm clinical recommendations, and underscoring the need for future research into the value of these therapeutic alternatives in poor responders.

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