[A child with non-herpetic acute limbic encephalitis affecting the claustrum and hippocampus].

We experienced an 8-year-old-boy with non-herpetic acute limbic encephalitis (NHALE), who developed headache, convulsion, consciousness disturbance, and ataxia following cold like symptoms. Disturbance of short term memory and a change of character were recognized. Myoclonic seizures and generalized tonic clonic convulsions developed, that responded to antiepileptic agents. Although other symptoms resolved spontaneously, short term memory disturbance persisted. Brain MRI demonstrated the lesion involving the bilateral claustrum and right hippocampus. Three months later, the lesion in the claustrum disappeared, but the hippocampus still showed slight hyperintensity on FLAIR image of MRI. Autoantibodies against glutamine receptor were detected in the cerebrospinal fluid and plasma, which suggested the involvement of immunologic disturbances in this disease. In NHALE, many cases have been reported in adults but not in children, and the further attentions should be paid to childhood-onset NHALE.

[Case of Sanfilippo syndrome type B and Wilson disease born to unrelated parents].

A 5-year-old boy visited a hospital because of macrocephalus, mental retardation and hepatic dysfunction, and was suspected to have Wilson's disease since his father had this disease. The serum level of ceruloplasmin was low, but urinary copper excretion was not increased markedly. He was treated with D-penicillamine. He was then reffered to our hospital because of his facial features suggesting mucopolysaccharidosis. Based on mucopolysacchariduria and the deficiency of N-acetylglucosaminidase, the diagnosis of Sanfilippo syndrome type B was made. Molecular analyses identified him as a compound heterozygote for both the ATP7B (A844V/2659delG) and alpha-N-acetylglucosaminidase (V241M/R482W) genes, responsible for Wilson's disease and Sanfilippo syndrome type B, respectively. Although born to non-consanguineous parents, he had two rare autosomal recessive diseases. In this case, liver dysfunction was attributed to Wilson's disease, and mental retardation to Sanfilippo syndrome.

Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations.

Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients with Sanfilippo syndrome type B from six unrelated families was carried out, and six disease-causing mutations were found. The parents of Patient 2 had a consanguinous marriage, but other families did not have any record of consanguinity. Two families were from Okinawa Island, where more patients with Sanfilippo syndrome were found than in other areas in Japan. Patients 1 and 6 showed the most severe phenotype with rapid progression. Patients 2, 5, and 7 were moderate. Patients 3 and 4 (sib cases) showed an attenuated form compared with other patients. Patients 1, 2, and 6 were homozygous for R482W, R565W, and R565P, respectively. Patients 3 and 4 were compound heterozygous for F314L and R565P. Patient 5 had delTG2171-2172 in exon 6 in one allele, and the other allele was unknown. Patient 7 was compound heterozygous for V241M and R482W. The family of Patients 3 and 4 and that of Patient 6 are unrelated, although both families are from Okinawa Island, and the patients have the same mutation, R565P; thus, R565P might be a common mutation in the Okinawa district. F314L and V241M are novel mutations.