ABSTRACT
Recently a mutation in the SNX10 gene that belongs to the sorting nexin family was identified as a cause of a new subset of human autosomal recessive osteopetrosis. Here, we identified a novel homozygous mutation (c.46C > T, p.Arg16X) in SNX10, in an Iraqi boy from a consanguineous family with a history of infantile osteopetrosis. The proband exhibited macrocephaly, prominent forehead, proptosis of the eyes, strabismus, splenomegaly and joint hyperlaxity. Bone X-rays showed increased bone density, metaphyseal under-modelling, transverse alternating bands of greater and lesser density in tubular bones, anteriorly notched vertebral bodies and bone-in-bone appearance. Brain atrophy, external hydrocephalus and thin corpus callosum were noted at the brain MRI and CT scan. Blood test results revealed the presence of anaemia and leukopenia. Our findings confirm the role of SNX10 in autosomal recessive osteopetrosis and help to better define the core set of manifestations associated with this new pathological entity.
Subject(s)
Agenesis of Corpus Callosum/genetics , Homozygote , Mutation , Osteopetrosis/genetics , Sorting Nexins/genetics , Agenesis of Corpus Callosum/diagnosis , Amino Acid Sequence , Amino Acid Substitution , Base Sequence , Bone and Bones/pathology , Brain/pathology , Child, Preschool , Consanguinity , Facies , Genes, Recessive , Humans , Male , Osteopetrosis/diagnosis , PedigreeABSTRACT
OBJECTIVES: To study the efficacy of surgery on the postoperative control of epilepsy in patients operated for brain tumors. METHODS: Forty patients operated for supratentoriel cerebral tumors with epilepsy, at Hotel-Dieu de France (HDF) hospital center, between 1983 and 2005, were included in this study. Clinical, paraclinical and surgical information were collected. The extent of the tumor resection was based on the postoperative MRI results. RESULTS: The mean duration of the follow-up was 52 +/- 6 months (from 6 months to 10 years). 62.5% of our patients have had acute seizures (< 1 year) and 37% had experienced chronic seizures (> or = 1 year). The histopathologic exam revealed 2 DNET, 3 pilocytic astrocytomas, 2 diffuse astrocytomas, 6 A oligodendrogliomas, 7 B oligodendrogliomas, 7 anaplastic astrocytomas and glioblastomas and 13 meningiomas. Twenty-two patients had a complete resection, whereas the postoperative MRI of 18 patients have shown a tumoral remnant. After one year of follow-up, a complete remission was noted in 57.5% of the patients (Engel I). The prognostic factors of good outcome were: low-grade glial tumors (I +/- II), meningiomas, and complete tumor resection. CONCLUSION: The efficacy of surgery for epilepsy associated to cerebral tumors, established by the majority of articles, matched the results obtained for the patients operated at HDF, with complete seizures control in 57.5% of patients. This control depended essentially on the extent of tumor resection and on tumor's nature.
