Kayoko Yoshimura

Focal pachypolymicrogyria in three siblings.

The malformation of focal pachypolymicrogyria might be the manifestation of an X-linked recessive disorder according to the results of this study. Three siblings revealed focal pachypolymicrogyria on magnetic resonance imaging (MRI) and had a strong family history of epilepsy and mental retardation. All three siblings had the same mother; the father of Patient 1 was not related to the mother, but the father of Patients 2 and 3 was related to her. The MRI of the father of Patients 2 and 3 demonstrated focal pachypolymicrogyria. The mothers MRI was normal. In this family, epilepsy or mental retardation was found mainly in the males (Patient 3 was an exception), and they were all born to female members of this family, not male. Patient 3 was probably a homozygote with an X-linked recessive inheritance, and therefore, she demonstrated the most severe clinical findings.

Prevalence of positive anticardiolipin antibody in benign infantile convulsion.

We report six anticardiolipin antibody (aCL)-positive cases among 18 children with epilepsy showing various seizure types in our initial study. These six cases revealed normal coagulation tests. As three of these six cases involved benign infantile convulsion (BIC), we further investigated the high frequency of positive aCL-Immunoglobulin (Ig) G in BIC in our subsequent study of nine cases that included three cases from the previous study and an additional six BIC cases followed and/or diagnosed by co-author (T.K.). As a result, eight of nine BIC cases were positive for aCL-IgG and the values of aCL-IgG decreased over long-term observation in three of these cases. The frequency of positivity for aCL-IgG in BIC was obviously higher than that of controls. Based on these results, we suggest that some immunological responses may be responsible for the pathogenesis of BIC.

Age-related changes in the posterior limb of the internal capsule revealed by magnetic resonance imaging

In this study, we examined the age-related differences in the corticospinal tract (CST) of the posterior limb (PL) of the internal capsule (IC) by analyzing 53 magnetic resonance (MR) images from 45 subjects. Regions in the posterior part of the PL of the IC were observed as hypointense areas in T1-weighted images of axial sections at 4 years of age. These regions became clear, spotty hyperintense areas in T2-weighted images of subjects older than 9 years. These regions persisted in all cases beyond 9 years of age, level on both T1- and T2-weighted images. The region is consistent with the CST from MR images of coronal and sagittal sections in our study. These results suggest that differences among the region may occur, such as an increase in fiber size and an increase in the thickness of the myelin sheaths, depending on age after the completion of general myelination in the CST.

A case of poliomyelitis-like syndrome

The authors report the case of a boy aged 4 years who had sudden abdominal pain and inability to walk on the day before admission to hospital and who developed abdominal distention and difficulty urinating. On admission, the abdominal skin reflexes, knee jerks, cremaster and anal reflexes were absent and power in the lower extremities was reduced. Spinal fluid examination showed a cell count of 383/mm3, with 95% neutrophils and 5% lymphocytes; spinal fluid protein of 44 mg/dl; and glucose 75 mg/dl. Serological studies did not reveal any significant antibodies for polio virus type 1, 2, 3, various ECHO viruses, Coxsackie types A4, A7, A9, B1 or B5. However, the titer of Coxsackie virus antibody type A10 was 128 in the acute phase and only 32 in the recovery phase 4 weeks later. Magnetic resonance scans were performed on the second day; the findings were normal in the brain, but interesting lesions were revealed in the thoracic cord with both T1-weighted images and T2-weighted images. Neurological symptoms improved asymmetrically.

A case of nonconvulsive status epilepticus associated with focal cortical dysplasia.

A 6-year-old girl who exhibited nonconvulsive status epilepticus (NCSE) as her main clinical seizure is reported. Her seizures involved abnormal eye movement that occurred every 1-2 months associated with a dulling of responsiveness and falling easily due to ataxic gait. During the seizure, her eyelids drooped so that the eyes appeared hooded and she seemed to be drunk. During the episode, she laughed or cried easily with no relation to her surroundings. Ictal EEG continuously showed diffuse high-voltage theta and slow waves with spikes and diffuse spike and waves, and interictal EEG showed spike and waves in the left frontal region. Brain magnetic resonance imaging revealed focal cortical dysplasia in the left frontal region. These findings suggested that the origin of NCSE is related to the frontal lobe.

Hyperimmunoglobulinemia D syndrome successfully treated with a corticosteroid

The hyperimmunoglobulinemia D and periodic fever (hyper IgD syndrome, HIDS) is defined as a disease entity consisting of recurrent high spiking fever. The disease is accompanied with lymphadenopathy, abdominal distress, headache, joint involvement, skin lesions and an elevated serum IgD level. Some reported values include >100 U/mL1,2 and also >14 mg/dL.3 Most cases of this syndrome have been reported in Europe. Drenth et al. recently identified the gene responsible for the syndrome.4 However, the pathogenesis of this syndrome remains unclear and an effective therapy has not yet been established. This report involves a Japanese boy with HIDS, successfully treated with corticosteroid therapy.