BACKGROUND AND PURPOSE Mutation of the neurofibromatosis type 1 (NF-1) gene may be associated with abnormal growth control in the brain. Because macrocephaly could be a sign of abnormal brain development and because 30% to 50% of children with NF-1 display macrocephaly in the absence of hydrocephalus, we sought to determine the relationship between macrocephaly and other brain abnormalities in ...

MACROCEPHALY SYNDROMES Charles A. Williams, MD INTRODUCTION Macrocephaly is defined as a head circumference which is greater than 2 standard deviations larger than the average for a given age and sex. It refers to an abnormally large head inclusive of the scalp, cranial bone and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain) or due to other cond...

Previous research has suggested that the local processing bias often reported in studies of Autism Spectrum Condition may only be typical of a subgroup of individuals with autism also presenting with macrocephaly. The current study examined a group of children with autism, with and without macrocephaly, on the Children's Embedded Figures Test (CEFT), a well-established measure of local processi...

Case presentation: 1: A boy with developmental delay and congenital macrocephaly, evolving dysphagia airway hypotonia. Complete exome sequencing was performed detection of pathogenic variant in the PTEN gene (c.737C>T). 2: Premature boy, delayed development departure, macrocephaly ephelides foreskin. He developed nodular hyperplasia ileum painful amplification syndrome pharmacoresistant pain. S...

The muscle biopsy results from 14 children with macrocephaly and hypotonia/weakness were correlated with clinical findings compatible with any of the autosomal dominant macrocephaly syndromes. Thirteen of the 14 had evidence of lipid storage myopathy, either generalised or focal. All 13 had examinations consistent with either benign familial macrocephaly, Ruvalcaba-Myhre-Smith syndrome, or Bann...

Neurofibromatosis type 1 is a common neurogenetic disorder characterized by significant clinical variability. As such, numerous studies have focused on identifying clinical, radiographic, or molecular biomarkers that predict the occurrence or progression of specific clinical features in individuals with neurofibromatosis type 1. One of these clinical biomarkers, macrocephaly, has been proposed ...

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a leukodystrophy characterized by early-onset macrocephaly and delayed-onset neurological deterioration. Recessive MLC1 mutations are observed in 75% of patients with MLC. Genetic-linkage studies failed to identify another gene. We recently showed that some patients without MLC1 mutations display the classical phenotype; others...

how to cite this article: talebian a, soltani b, moravveji ar, salamati l, davami m. a study on causes and types of abnormal increase in infants’ head circumference in kashan/iran. iran j child neurol. 2013 summer; 7(3): 28- 33.   objective head circumference is a valuable index of brain growth and its disturbances can indicate different disorders of nervous system. abnormal increased head circ...

C owden syndrome (CS; OMIM 158350) is an autosomal dominant disorder with age related penetrance characterised by mucocutaneous lesions, macrocephaly and an increased risk of cancer, especially of the breast, thyroid and endometrium. 2 The phenotype in CS has proven to be highly variable, which became especially evident after identification of the susceptibility gene PTEN. 4 This is also shown ...