Reelin is an extracellular matrix-associated protein important in the regulation of neuronal migration during cerebral cortical development. Point mutations in the RELN gene have been shown to cause an autosomal recessive human brain malformation termed lissencephaly with cerebellar hypoplasia (LCH). Recent work has raised the possibility that reelin may also play a pathogenic role in other neuropsychiatric disorders. We sought, therefore, to define more precisely the phenotype of RELN gene disruption. To do this, we performed a clinical, radiological, and molecular study of a family in whom multiple individuals carry a chromosomal inversion that disrupts the RELN locus. A 6-year-old girl homozygous for the pericentric inversion 46,XX,inv7(p11.2q22) demonstrated the same clinical features that have been previously described in association with RELN point mutations. The girl's brain magnetic resonance imaging (MRI) findings, including pachygyria and severe cerebellar hypoplasia, were identical to those seen with RELN point mutations. Fluorescence in situ hybridization confirmed that one of the breakpoints of this inversion mapped to within the RELN gene, and Western blotting revealed an absence of detectable serum reelin protein. Several relatives who were heterozygous for this inversion were neurologically normal and had no signs of psychotic illness. Our findings demonstrate the distinctive phenotype of LCH, which is easily distinguishable from other forms of lissencephaly. Although RELN appears to be critical for normal cerebral and cerebellar development, its role, if any, in the pathogenesis of psychiatric disorders remains unclear.

Segmental neurofibromatosis is considered to be the result of postzygotic NF1 gene mutations. We present a family in which the proband has generalized neurofibromatosis 1, whereas members of previous generations manifest segmental skin lesions. All, including the clinically asymptomatic grandmother, carry the same haplotype. This is the only case in the literature in which a parent with segmental skin findings has a child with full-blown neurofibromatosis 1 disease. The genetic mechanisms underlying this association are discussed. This family can be further investigated by examination of tissue samples from affected and unaffected sites for mutations.

We present a patient with serologicaily confirmed Epstein-Barr virus (EBV) infection who had illusions of size, shape, and colour of objects but none of the typical symptoms and signs peculiar to infectious mononucleosis (IM) except sore throat which developed 2 weeks after the initial visual disturbances. The bizarre feelings about the images of body and objects are called the 'Alice in Wonderland syndrome' due to the similarity with Alice's dreams. The same symptomatology including visual metamorphosia is defined in patients with migraine, epilepsy, intoxication due to hallucinogenic drugs, schizophrenia, hyperpyrexia, and cerebral lesions. Alice in Wonderland syndrome has also been reported in the course of IM.

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An 11-month-old girl who has Dandy-Walker's variant (DWV) associated with tetralogy of Fallot (TOF), atrial septal defect (ASD), patent ductus arteriosus (PDA), and primary hypothyroidy is presented. There has been no report describing a case of DWV associated with TOF, ASD and PDA and primary hypothyroidy. The first case of Dandy-Walker malformation associated with TOF was reported by Kohyama et al in 1988, since then, a few cases were reported in the literature. Our patient is the first reported case.