[P1-76] Intractable Epilepsy in Ring Chromosome Syndromes.
[Introduction] Ring chromosomes are rare chromosomal disorders. We report two cases with ring chromosome syndromes who exhibited refractory epilepsy.
[Case 1] 3 years old girl with colpocephaly, hydrocephalus, hypoplasia of corpus callosum, refractory epilepsy, congenital hip dislocation, moderate mental retardation and growth retardation. Soon after birth, brain anomalies were found on MRI. She developed hydrocephalus which required VP-shunt operation. Chromosomal examination revealed 46,XX,r(6)(p25q25.3). Afebrile seizures developed at 8 months, which could not be controlled with sodium valproate. Levetiracetam and clobazam reduced the seizure frequency. Currently she can sit, but cannot speak any meaningful words.
[Case 2] 5 years old boy with refractory epilepsy, mild mental retardation and short stature. His first seizure occurred at 10 months. Brain MRI was unremarkable. Several antiepileptic drugs were administered but his epilepsy was drug-resistant. Finally, his seizures were controlled with zonisamide, phenobarbital and levetiracetam. Initially, chromosomal disorder had not been suspected. However, short stature gradually became evident. Chromosomal investigation was performed, which revealed mos 46,XY,r(14)(p11.2q32.3)/45,XY,-14/46,XY,dic r(14;14)(p11.2q32.3;p11.2q32.3). Currently he can walk and communicate using hand signs.
[Discussion] Both cases developed refractory epilepsy. In Case 1, the presence of brain anomaly led us to perform chromosomal analysis, whereas in case 2, chromosomal analysis had not been considered because of the absence of obvious anomaly. Ring chromosome 14 syndrome is known to have refractory epilepsy. It is necessary to consider chromosomal examination when the patient exhibits refractory epilepsy and short stature.
[Conclusion] If the patient exhibits both intractable epilepsy and short stature, chromosomal analysis is strongly recommended.
[Case 1] 3 years old girl with colpocephaly, hydrocephalus, hypoplasia of corpus callosum, refractory epilepsy, congenital hip dislocation, moderate mental retardation and growth retardation. Soon after birth, brain anomalies were found on MRI. She developed hydrocephalus which required VP-shunt operation. Chromosomal examination revealed 46,XX,r(6)(p25q25.3). Afebrile seizures developed at 8 months, which could not be controlled with sodium valproate. Levetiracetam and clobazam reduced the seizure frequency. Currently she can sit, but cannot speak any meaningful words.
[Case 2] 5 years old boy with refractory epilepsy, mild mental retardation and short stature. His first seizure occurred at 10 months. Brain MRI was unremarkable. Several antiepileptic drugs were administered but his epilepsy was drug-resistant. Finally, his seizures were controlled with zonisamide, phenobarbital and levetiracetam. Initially, chromosomal disorder had not been suspected. However, short stature gradually became evident. Chromosomal investigation was performed, which revealed mos 46,XY,r(14)(p11.2q32.3)/45,XY,-14/46,XY,dic r(14;14)(p11.2q32.3;p11.2q32.3). Currently he can walk and communicate using hand signs.
[Discussion] Both cases developed refractory epilepsy. In Case 1, the presence of brain anomaly led us to perform chromosomal analysis, whereas in case 2, chromosomal analysis had not been considered because of the absence of obvious anomaly. Ring chromosome 14 syndrome is known to have refractory epilepsy. It is necessary to consider chromosomal examination when the patient exhibits refractory epilepsy and short stature.
[Conclusion] If the patient exhibits both intractable epilepsy and short stature, chromosomal analysis is strongly recommended.