Macrocephaly affects up to 5% of the pediatric population and is defined as an abnormally
large head with an occipitofrontal circumference (OFC)> 2 standard deviations (SD) above …

The basal ganglia and thalami are paired deep grey matter structures with extensive
metabolic activity that renders them susceptible to injury by various diseases. Most …

Macrocephaly is a relatively common clinical condition affecting up to 5% of the pediatric
population. It is defined as an abnormally large head with an occipitofrontal circumference …

Figure 1. Medical illustration shows the pathogenesis and key imaging manifestations of
GA1.(A) GCDH gene mutations on chromosome 19 cause a deficiency in the glutaryl Co-A …

The deficiency of the enzyme glutaryl‐CoA dehydrogenase, known as glutaric acidemia type
I (GA‐I), leads to the accumulation of glutaric acid (GA) and glutarilcarnitine (C5DC) in the …

Macrocephaly, defined as a head circumference greater than 2 standard deviations above
the mean, is a relatively common presenting symptom in the pediatric population at routine …

A stroke should be considered in cases of neurologic decompensation associated with
inherited metabolic disorders. A resultant stroke could be a classical ischemic stroke …

Purpose A new form of autosomal dominant hereditary spinocerebellar ataxia (SCA) has
been recently described (SCA48), and here we investigate its conventional MRI findings to …

There are multiple causes of neurotoxicity in children including medications, extrinsic toxins
and insults, illicit drugs, built up of toxic metabolites due to genetic or acquired disorders …

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal-recessive
disorder of gamma-aminobutyric acid (GABA) metabolism, resulting in accumulation of …