Psychopathology in the Lujan–Fryns syndrome: Report of two patients and review

Abstract

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.

Autism spectrum disorders: The quest for genetic syndromes

“…Behavioral problems and psychiatric disorders are often present in Lujan–Fryns patients, whereas “autistic‐like disorders”, in specific, have been described in 62.5% of all cases reported up to now in literature. The latter rate was reported by Lerma‐Carrillo et al [2006], who reviewed 32 documented cases of Lujan–Fryns and described another two personal ones. The authors used the term “autistic‐like disorders”, which they defined as “disability to establish social relations, tendency to isolation, and extreme shyness”.…”

Comparative analysis of a novel disease phenotype network based on clinical manifestations

“…Many literatures support the phenotype similarities between LFS and MS, such as tall stature, long limbs, and heart problems [11,41,27,13]. Inspired by these common phenotype features, a few studies looked for new genetic origins of MS and LFS [21,7]. …”

Characterization of a new X‐linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

“… a Schwartz et al 2007, Williams 2006, Lerma‐Carrillo et al 2006, Tarpey et al 2007, Wittine et al 1999, De Hert et al 1996, Gurrieri and Neri 1991, Lujan et al 1984, Lalatta et al 1991, Rivera et al 1992, Fryns and Buttiens 1987. …”