Introduction Congenital intracranial tumors are rare and often incidentally diagnosed on routine ultrasound. We report a case of a fetal demise with a massive intracranial teratoma at 25 weeks of gestation and the management of her delivery in the setting of macrocephaly, breech presentation, and polyhydramnios. Case A 31-year-old G3P1011 woman at 25 weeks' gestation presented with a recent fet...

OBJECTIVE To analyse the distributions of and generate growth charts for stature and occipitofrontal circumference (OFC) in neurofibromatosis 1 (NF1) patients. DESIGN Cross sectional database survey. SETTING The National Neurofibromatosis Foundation International Database (NFDB) includes clinical information on NF1 patients from 14 participating centres in North America. SUBJECTS A total ...

Multiple autism risk genes converge on the regulation of mTOR signalling, which is a key effector of neuronal growth and connectivity. We show that mTOR signalling is dysregulated during early postnatal development in the cerebral cortex of germ-line heterozygous Pten mutant mice (Pten+/-), which model macrocephaly/autism syndrome. The basolateral amygdala (BLA) receives input from subcortical-...

BACKGROUND Recurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association with 1q21.1 microdeletions include developmental delay, craniofacial dysmorphism and congenital anomalies. The 1q21.1 reciprocal duplication has been associated with macrocephaly or relative macrocephaly, frontal bossing, hypertelorism, de...

PTEN (phosphatase and tensin homolog deleted on chromosome ten) is a lipid phosphatase that counteracts the function of phosphatidylinositol-3 kinase (PI3K). Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including macrocephaly, seizures, Lhermitte-Duclos disease, and autism....

An 8-month-old infant presents with macrocephaly and a mild motoric deficit. The pediatrician asks a complementary MR examination to exclude hydrocephalus. MR-images show diffuse swelling of white matter with preservation of the corpus callosum and the internal capsule. Also the occipital periventricular and subcortical white matter is better preserved than the rest of the cerebral white matter...

Three weeks later, the boy was still tachypneic and needed supplemental oxygen and nasogastric tube feeding. Cardiac catheterization was performed and showed normal pulmonary arterial pressure but left ventricle dilatation and high-output (8.4 liters/min) cardiac failure. Distended veins coming from the brain were seen and subsequently magnetic resonance angiography of the neurocranium was perf...

This report illustrates the usefulness and safety of very early hemispherotomy in an infant with Ohtahara syndrome (OS) secondary to left parieto-occipital megalencephaly. It provides evidence that surgical intervention might provide promising results in selected cases, and that young age is not a contraindication for this type of surgery.