Lateral Meningocele (Lehman) Syndrome: A Rare Connective Tissue Disorder Craniofacial Dysmorphism. M. Carter1, S. Blaser2 1) Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada; 2) Diagnostic Imaging, The Hospital for Sick Children, Toronto, ON, Canada.
Multiple lateral meningoceles are a rare anomaly. Lehman et al. (1977) first described a mother and daughter with similar craniofacial dysmorphisms, skeletal sclerosis, and multiple meningoceles. Subsequently, eight more cases have been described (Philip et al., 1995; Gripp et al., 1997; Chen et al., 2005 and Correia-Sa et al., 2013). The causative gene for Lehman syndrome is not yet known. The patient described in this abstract is a two-year-old boy with Lehman syndrome, born to a non-consanguineous Caucasian couple. Prenatally, a complex cardiac malformation was diagnosed (tubular hypoplasia of the aortic arch with coarctation, large ventricular septal defect, hypoplastic aortic valve, and bilateral superior vena cavae). MRI of brain showed middle cranial fossa encephaloceles and Chiari I malformation, with cerebellar tonsils extending to the posterior arch of C2. After discharge at 2 months of age, parents noted bilateral flank swelling. An ultrasound of the abdomen showed lateral lumbar meningoceles displacing the kidneys and causing the swelling due to deficient posterior wall musculature. Spine MRI showed enlarged spinal canal, and bilateral extensive lateral neural foramina meningoceles. The baby was discharged with NG tube in situ for feeding, and eventually required gastrostomy due to dysphagia. He was diagnosed with moderate bilateral conductive hearing impairment; hearing aids were prescribed. He has left amblyopia. Cardiac status has been stable. Dysmorphic features include left posterior plagiocephaly and tall cranial vault, sparse hair, hypoplastic supraorbital ridges, epicanthus, hypertelorism, ptosis, downslanted palpebral fissures, midface hypoplasia, small nares, long philtrum and thin upper vermillion, highly arched palate, bifid uvula, short upper lingual frenulum, asymmetric low set ears with short canals, significant microretrognathia, and bilateral single palmar creases. Neurological exam is significant for paucity of facial movement and diffuse hypotonia and joint hypermobility. Development at 13 months of age was significantly delayed. We present a child with Lehman syndrome, and review the cases reported to date. International collaboration will be useful for discovery of the gene(s) responsible for this complex condition.
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