Benign macrocephaly of infancy is a common problem in the child neurology practice. The radiologic features of this entity are not well defined. In most of the previous studies, macrocephalic patients were evaluated by computed tomography. To define the radiologic characteristics of this entity, 20 children with macrocephaly with normal neurologic examinations were enrolled in the study. All the patients were evaluated by magnetic resonance imaging studies. Sixty-five percent of patients had enlargement of the subarachnoid space and 35% of patients had megalencephaly. None of the patients had subdural collections. The mean age of patients with enlargement of the subarachnoid space was found to be younger than those with megalencephaly. The cases with parental histories of macrocephaly demonstrated both enlargement of the subarachnoid space and megalencephaly. Our results suggest that the radiologic finding of benign macrocephaly can be both enlargement of the subarachnoid space and megalencephaly.

Paraspinal mapping technique is a sensitive method in the diagnosis of lumbar spinal stenosis and reflects physiology of nerve roots better than the limb electromyography.

N372T is unlikely to cause altered thyroid function. This is consistent with the finding that only the index patient with the additional somatic mutation S281N was hyperthyroid.

The syndrome of McCune-Albright syndrome (MAS) is clasically defined as a triad presentation with the findings of polyostotic fibrous dysplasia, café-au-lait spots, and sexual precocity. However, not all patients present with complete symptoms. A 52-year-old man was diagnosed as having a variant of McCune-Albright syndrome with the following findings: polyostotic fibrous dysplasia, acromegaly due to pituitary tumor and subclinical hyperthyroidism due to toxic multinodular goiter. Sexual precocity and café-au-lait spots were not noted. Acromegaly was confirmed by laboratory examination (IGF-1, glucose suppression test and TRH stimulation test). Long acting somatostatin analogue was used as treatment. Although the pituitary tumor could not be removed due to technical problems, mass lesions on the cranium were removed subtotally. Histopathological evaluation demonstrated that the lesion complied with fibrous dysplasia. Genomic DNAs were isolated from the craniofacial bones and peripheral leucocytes of the patient. After amplifying the related regions, Gs alpha (Gs alpha) gene was analysed by automatic DNA sequence analysis. An activating mutation of the Gs alpha gene (Arg 201 Cys) was found in the genomic DNA isolated from the bone tissue of the patient, but not in the genomic DNA isolated from the blood. We described a case of MAS associated with Gs alpha mutation in the bone tissue, presenting with polyostotic fibrous dysplasia, subclinical hyperthyroidism and acromegaly.

DOCK7 (MIM:615730) plays a key role in neurogenesis by promoting the differentiation and transition of radial glial cells to basal progenitors and neurons [1]. DOCK7 also regulates tangential neuroblast migration in the postnatal mouse forebrain [2]. Recently, a new phenotype of early infantile epileptic encephalopathies (EIEE23, MIM: 615859) was reported in 3 girls from 2 families with 4 different compound heterozygous truncating mutations in DOCK7 [3]. Here, we report a boy with infantile onset well-controlled non-encephalopathic epilepsy and severe neurodevelopmental delay associated with a novel homozygous truncating mutation in DOCK7.

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