This inborn error of manganese metabolism has only recently been identified. A total of 28 affected individuals from ten families are known worldwide. Mutations in SLC39A14, encoding a Mn uptake transporter, have recently been recognized to cause excessive Mn concentrations in the blood which is believed to be neurotoxic and lead to a parkinsonian-like movement disorder caused by accumulation of Mn in the basal ganglia. We are reporting a new variant of SLC39A14 gene mutation (OMIM 608736 8p21.3) that has never been described in the literature so far. The index case is a 3-year-old female who was born at 30 weeks' gestation by emergency lower segment caesarean section, the second of twins, weighing 1.4 kg. Parents have a consanguineous marriage (first cousins) and have four healthy male children. She presented at 30 months of age with history of unsteady gait of 4 months duration and is progressively worsening. She became stiff and has lost all of her locomotor skills. Apart from low serum iron and iron deficiency anemia, her initial work up was unremarkable. T1-weighted MRI brain showed bilateral hyperintense signal in basal ganglia, mid-brain and pontine tegmentum giving rise to the characteristic eye-of-the-tiger sign. Genetic DNA evaluation (Whole Exome Sequencing WES) identified the homozygous missense variant c.1136.T in exon 7 of SLC39A14 gene which is associated with hypermanganesemia. Whole blood Mn was markedly raised at 150 nmol/L (8 mg/L) (normal 10 nmol/L, 0.7 mg/Bioscientia). This young girl has just started treatment with intravenous disodium calcium edetate and oral iron.

The prevalence of autism in Libya is probably similar to that seen in the USA and the UK. No data were available for comparison from either Arab or other developing countries. Autism is an important differential diagnosis of any language disorder 'and behavioral difficulties'.

To evaluate the routine usage of Magnetic Resonance Imaging (MRI) of brain and estimate the prevalence of brain abnormalities in children presenting to the Neurodevelopment Clinic of Al-Khadra Hospital (NDC-KH), Tripoli, Libya with autistic spectrum disorders (ASD). The records of all children with ASD presented to NDC-KH over 4-year period (from January 2009 to December 2012) were reviewed. All MRIs were acquired with a 1.5-T Philips (3-D T1, T2, FLAIR coronal and axial sequences). MRIs were reported to be normal, abnormal or no significant abnormalities by a consultant neuroradiologist. One thousand and seventy-five children were included in the study. Seven hundred and eighty-two children (72.7 %) had an MRI brain of whom 555 (71 %) were boys. 26 children (24 males and 2 females) (3.3 %) demonstrated MRI abnormalities (8 leukodystrophic changes, 4 periventricular leukomalacia, 3 brain atrophy, 2 tuberous sclerosis, 2 vascular changes, 1 pineoblastoma, 1 cerebellar angioma, 1 cerebellar hypoplasia, 3 agenesis of corpus callosum, 1 neuro-epithelial cyst). An unexpectedly high rate of MRI abnormalities was found in the first large series of clinical MRI investigations in children with autism. These results could contribute to further research into the pathogenesis of autistic spectrum disorder.

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