Seiichi Sugama

Magnetic resonance imaging in three children with kernicterus

The incidence of kernicterus has been greatly reduced by effective monitoring and treatment for hyperbilirubinemia. Findings on magnetic resonance imaging (MRI) in patients with kernicterus are characteristic. This study presents three cases of possible kernicterus without typical symptoms but with MRI features consistent with kernicterus. These cases suggest that kernicterus can develop, especially in preterm infants, in the presence of relatively low levels of bilirubin and the absence of obvious acute symptoms. Therefore assessing the risk of kernicterus may be difficult in the neonatal period. In addition, MRI findings at the posteromedial border of the globus pallidus in patients with athetotic cerebral palsy are strong evidence of brain damage caused by kernicterus.

Partial deletion of the long arm of chromosome 11: ten Japanese children

The clinical features of partial deletion 11q were correlated with the size of the deleted region. Ten Japanese children with partial deletion of 11q were investigated. They were divided into three groups. Three patients in the first group had interstitial deletions and preserved subband q24.1. Six patients in the second group demonstrated terminal deletion of 11q including subband q24.1, with typical features of 11q‐syndrome (Jacobsen syndrome). The third group included only one patient, who had terminal deletion of 11q without characteristics of typical 11q—syndrome. Prominent features of patients in the first group included severe mental and motor developmental delay, seizures, cleft lip and palate, and ophthal‐mological findings. Patients in the second group showed mild to moderate developmental delays without deterioration. Abnormalities in neuroimages, high intensity in the cerebral white matter in T2‐weighted magnetic resonance (MR) images, and recurrent infections were not observed after the age of 7 years. The subject in the third group, with the smallest amount of deleted chromosome, did not show developmental delays, suggesting that some unknown genes related to developmental delays may be located adjacent to subband q24.1. Variation in the deleted parts of 11q resulted in different clinical features in each group.

Monozygous twin with polymicrogyria and normal co-twin

Monozygous twinning has been associated with brain lesions such as holoprosencephaly, hydranencephaly, multicystic encephalomalacia, and porencephaly. Polymicrogyria is rare but has been reported in autopsied cases. We present a monozygotic twin with complicating twin-twin transfusion syndrome, the donor exhibiting normal psychomotor development and the recipient psychomotor delay associated with the brain anomaly, polymicrogyria. The brain anomaly might be due to blood pressure instability or a circulatory disturbance resulting from increased coagulability due to polycythemia.

Transient, unilateral, isolated hypoglossal nerve palsy

We report a boy with isolated hypoglossal nerve palsy that recovered within twelve weeks. Investigations of the cervix, base of the skull, medulla and hypoglossal nerve by CT-scan and MRI did not show any abnormal findings. There are a few reports concerning isolated unilateral hypoglossal nerve palsy with benign course. Although we could not establish the cause of our patients disease, an awareness of this condition should save such patients from unnecessary invasive studies.

Studies on Chromosomal Anomaly Syndrome with Epilepsy

Thirty-two patients with CAS in Kita Medical Rehabilitation Center for Handicapped Children were investigated. We excluded cases of trisomy syndrome because of its poor prognosis for life. The age at examinations ranged from 1.6 months to 24 years (average 7.3). The degree of mental retardation was expressed as IQ or DQ, a degree of motor function disturbance was classified as I-VIII (no spontaneous movement of the extremities = I, able to run = VIII), severity of epilepsy was classified as I-V (no epilepsy = V, uncontrollable frequent seizures = I). On cranial CT scan, Evans ratio as the index of white matter atrophy, and a width of interhemispheric fissure as the index of cortical atrophy were used for estimation of the degree of brain involvements. 283