Answer for BIR CoW 20 Mar 2022
PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS
Findings
Evidence of large T1 hypo , T2 hyper intense well defined lesion noted in left fronto temporo parietal extra axial region measuring 5.1 cm (transverse) x 13.2 cm (anteroposterior) x 10.5 cm (craniocaudal) with mass effect and midline shift to right of 1.35 cm . The lesion shows internal septations . Evidence of similar lesion noted in right anterior temporal region measuring 2.5cm (anteroposterior) x 2.7 cm(transverse ). Evidence of increases csf spaces noted in right high parasagittal frontoparietal region and right parietal region . Gyral thickening noted in bilateral high frontal and parietal regions . Impression: Features suggestive of large left fronto temporo parietal arachnoid cyst causing midline shift to right Right anterior temporal arachnoid cyst . Increased csf spaces noted in right high para sagittal fronto parietal region and right parietal region . Pachygyria in bilateral high frontal and parietal regions.
Discussion
This autosomal recessive neurodevelopmental disorder is characterized by pachygyria, mental retardation, seizures, and diffuse localization of arachnoid cysts. It most likely represents a neuronal migration disorder within the lissencephaly spectrum . Inheritance Consanguinity in the family reported by suggested autosomal recessive inheritance. By genomewide linkage analysis of the consanguineous Turkish family NG-8 reported by Guzel et al. (2007), Bilguvar et al. (2009) found evidence suggestive of linkage to chromosome 11p15 with a lod score of 2.5, which was the maximum theoretical lod score attainable in this family. The approximately 20-cM interval was defined centromerically by rs953115.
REFERENCES
Bilguvar, K., Ozturk, A. K., Bayrakli, F., Guzel, A., DiLuna, M. L., Bayri, Y., Tatli, M., Tekes, S., Arlier, Z., Yasuno, K., Mason, C. E., Lifton, R. P., State, M. W., Gunel, M. The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15. Am. J. Med. Genet. 149A: 2569-2572, 2009. [PubMed: 19876906, related citations] [Full Text] Guzel, A., Tatli, M., Bilguvar, K., DiLuna, M. L., Bakkaloglu, B., Ozturk, A. K., Bayrakli, F., Gunel, M. Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts. Am. J. Med. Genet. 143A: 672-677, 2007. [PubMed: 17343267, related citations] [Full Text] Kuzniecky, R. Familial diffuse cortical dysplasia. Arch. Neurol. 51: 307-310, 1994. [PubMed: 8129645, related citations] [Full Text] Kuzniecky, R., Andermann, F., Guerrini, R., Tampieri, D., Andermann, E., Palmini, A., Olivier, A., Melanson, D., Leonard, G., Rosenblatt, B., and 15 others. Congenital bilateral perisylvian syndrome: study of 31 patients . Lancet 341: 608-612, 1993. [PubMed: 8094839, related citations] [Full Text] Palmini, A., Andermann, F., Aicardi, J., Dulac, O., Chaves, F., Ponsot, G., Pinard, J. M., Goutieres, F., Livingston, J., Tampieri, D., Andermann, E., Robitaille, Y. Diffuse cortical dysplasia, or the 'double cortex' syndrome: the clinical and epileptic spectrum in 10 patients. Neurology 41: 1656-1662, 1991. [PubMed: 1922811, related citations] [Full Text]
Findings
Evidence of large T1 hypo , T2 hyper intense well defined lesion noted in left fronto temporo parietal extra axial region measuring 5.1 cm (transverse) x 13.2 cm (anteroposterior) x 10.5 cm (craniocaudal) with mass effect and midline shift to right of 1.35 cm . The lesion shows internal septations . Evidence of similar lesion noted in right anterior temporal region measuring 2.5cm (anteroposterior) x 2.7 cm(transverse ). Evidence of increases csf spaces noted in right high parasagittal frontoparietal region and right parietal region . Gyral thickening noted in bilateral high frontal and parietal regions . Impression: Features suggestive of large left fronto temporo parietal arachnoid cyst causing midline shift to right Right anterior temporal arachnoid cyst . Increased csf spaces noted in right high para sagittal fronto parietal region and right parietal region . Pachygyria in bilateral high frontal and parietal regions.
Discussion
This autosomal recessive neurodevelopmental disorder is characterized by pachygyria, mental retardation, seizures, and diffuse localization of arachnoid cysts. It most likely represents a neuronal migration disorder within the lissencephaly spectrum . Inheritance Consanguinity in the family reported by suggested autosomal recessive inheritance. By genomewide linkage analysis of the consanguineous Turkish family NG-8 reported by Guzel et al. (2007), Bilguvar et al. (2009) found evidence suggestive of linkage to chromosome 11p15 with a lod score of 2.5, which was the maximum theoretical lod score attainable in this family. The approximately 20-cM interval was defined centromerically by rs953115.
REFERENCES
Bilguvar, K., Ozturk, A. K., Bayrakli, F., Guzel, A., DiLuna, M. L., Bayri, Y., Tatli, M., Tekes, S., Arlier, Z., Yasuno, K., Mason, C. E., Lifton, R. P., State, M. W., Gunel, M. The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15. Am. J. Med. Genet. 149A: 2569-2572, 2009. [PubMed: 19876906, related citations] [Full Text] Guzel, A., Tatli, M., Bilguvar, K., DiLuna, M. L., Bakkaloglu, B., Ozturk, A. K., Bayrakli, F., Gunel, M. Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts. Am. J. Med. Genet. 143A: 672-677, 2007. [PubMed: 17343267, related citations] [Full Text] Kuzniecky, R. Familial diffuse cortical dysplasia. Arch. Neurol. 51: 307-310, 1994. [PubMed: 8129645, related citations] [Full Text] Kuzniecky, R., Andermann, F., Guerrini, R., Tampieri, D., Andermann, E., Palmini, A., Olivier, A., Melanson, D., Leonard, G., Rosenblatt, B., and 15 others. Congenital bilateral perisylvian syndrome: study of 31 patients . Lancet 341: 608-612, 1993. [PubMed: 8094839, related citations] [Full Text] Palmini, A., Andermann, F., Aicardi, J., Dulac, O., Chaves, F., Ponsot, G., Pinard, J. M., Goutieres, F., Livingston, J., Tampieri, D., Andermann, E., Robitaille, Y. Diffuse cortical dysplasia, or the 'double cortex' syndrome: the clinical and epileptic spectrum in 10 patients. Neurology 41: 1656-1662, 1991. [PubMed: 1922811, related citations] [Full Text]
Note:
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!