Lateral meningocele syndrome: Vertical transmission and expansion of the phenotype

Abstract

Lateral meningoceles were first described by Lehman et al. [(1977); J Pediatr 90: 49-54] in a patient with other skeletal findings and distinctive craniofacial features. Subsequently, six more patients with the so-called lateral meningocele syndrome (LMS) have been reported. We describe the findings in three new cases and expand the phenotype. The existence of an affected mother and daughter supports the hypothesis that LMS is a dominant disorder affecting primarily the connective tissue.

Lateral meningocele syndrome and Hajdu–Cheney syndrome: Different disorders with overlapping phenotypes

“…Acro-osteolysis, a hallmark finding in Hajdu-Cheney syndrome, has not been reported in lateral meningocele syndrome. Because acro-osteolysis is progressive, it may not be recognized in young individuals, however, no abnormality of the fingers was reported in the 33-year-old patient 2 of Chen et al [2005]. Patient 2 reported on in Gripp et al [1997] does not have changes in his fingers per parental report at his current age of 23 years, nor has he lost teeth.…”

“…Similarly, the slender built with small muscle mass and little subcutaneous fat shown in Figure 2 in Avela et al [2011] strongly resembles that of patient 2 of Gripp et al [1997]. The facial appearance shown in a photograph of the patient reported by Avela et al [2011] is most similar to that of patients with lateral meningocele syndrome [Gripp et al, 1997;Chen et al, 2005], and have less in common with individuals with Hajdu-Cheney syndrome [Brennan and Pauli, 2001].…”

“…Based on the reported physical and developmental findings in this patient, a diagnosis of lateral meningocele syndrome (OMIM# 130720) [Philip et al, 1995;Gripp et al, 1997;Chen et al, 2005] may be more appropriate, as this condition accounts for the patient's most unusual finding, the multiple lateral meningoceles. Table I compares the findings in the patient reported by Avela et al [2011] to those previously published in lateral meningocele syndrome.…”

Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome

“…It is remarkable that in the Online Mendelian Inheritance in Men website [11], there are some rare cases described of neural tube defects (even more serious than in our patient) caused by a heterozygous mutation in a gene that belongs to the Notch pathway. In particular, one study described a few patients [28] with neural tube defects harboring heterozygous mutations in the NOTCH3 gene. The protein codified by this gene shows similarity with NOTCH2 [29], so it is possible that neural tube defects might be caused also by mutations in other genes coding for proteins that belong to the Notch signaling pathway.…”

Lateral meningocele with asymmetric canal stenosis: A case study

“…This disorder manifests itself with formations of cysts at different levels of the central nervous system along with meningeal diverticula protruding through the intervertebral spaces and filled by cerebrospinal fluid (Nabors et al, 1988). Other clinical findings associated with the lateral meningocele syndrome include specific facial anomalies, cryptorchidism, hypotonia and muscle atrophy, scoliosis, restricted joint movements, pectus deformities, and abdominal hernias (Lehman et al, 1977;Chen et al, 2005). Lateral meningoceles may be unilateral (as in the present case) or bilateral and may exist as solitary (as in the present case) or multiple.…”