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A Sibling of a Patient with Familial Schizencephaly with Epileptic Spasms
Author(s) -
Kimura Shigeru,
Sakemi Kikuo,
Makuta Masahiro
Publication year - 2000
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1157.2000.tb02272.x
Subject(s) - schizencephaly , cortical dysplasia , septum pellucidum , medicine , microcephaly , pediatrics , ictal , psychology , hemiparesis , electroencephalography , epilepsy , surgery , anatomy , psychiatry , lesion
Case Report: Case 1 was a 5‐year old male with normal perinatal history. At 4 months he was noted to have left hemiparesis and microcephaly. Right schizencephaly was seen on CT. At 7 months he developed epileptic spasms. The interictal EEG showed right parietal focal sharp waves, but no hypsarhythmia. Epileptic spasms initially were controlled with phenobarbital and carhamazepine, but he relapsed. At 5 years and 9 months, he only could speak a few words and he had left hemiparesis. MRI showed right schizencephaly, bilateral cortical dysplasia, and presence of a septum pellucidum. Case 2 was a I‐year old male. Ultrasound in utero showed schizencephaly. He was born after a 39‐week gestation at a birth weight of 3,442 g. He presented poor activity and microcephaly at birth, and poor feeding and retardation of growth followed. At 4 months, he developed epileptic spasms. Interictal EEG showed bilateral focal sharp waves over bilateral occipital and frontopolar regions. Ictal EEG showed an electrodecremental pattern. Infantile spasms were controlled with zonisamide and the focal sharp waves resolved. At I year and 2 months, he exhibited severe mental retardation and quadriplegia. MRIshowed bilateral schizencephaly, cortical dysplasia, and presence of a septum pellucidum. Laboratory studies of blood and urine were normal except for mildly elevated serum ALT. Chromosomal G‐banding was normal with a 46XY karyotype. Parents and another sibling were clinically normal, but were not studied by neuroimaging. Conclusions : Prior literature reports 4 cases of familial schizencephaly; this is the first in Japan. Those 10 cases in 5 families contained 4 pairs of sibs and 1 of half sibs, 5 males and 5 females. Six of 10 cases had bilateral cerebral clefts and 4 had right cerebral cleft, complicating absence of pellucidum in 4 cases, and cortical dysplasia in 8. Five cases developed bilateral paresis, 5 developed hemiparesis, 5 had severe mental retardation (MR), and 4 had moderate MR. Eight cases presented with generalized seizures and 2 had seizures of an unknown type. Among 6 patients with reported EEGs, 5 showed focal slow waves or focal seizure discharges. Several reported cases responded to seizure pharniacotherapy. Barkovick and associates reported 20 cases of non‐familial schizencephaly with bilateral clefts, complicated other cerebral developmental anomalies, severe mental retardation, severe motor dysfunction, and epilepsy at a prevalence statistically lower than that of familial cases. Familial cases tended to have generalized seizures, non‐familial cases partial seizures. Two of the non‐familial cases developed infantile spasms and our cases developed epileptic spasm without EEG findings of hypsarhythmia.