how to cite this article: karimzadeh p, jafari n, jabbehdari s, taghdiri mm, nemati h, saket s, alaee mr, ghofrani m, tonakebni sh. methylmalonic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder (an iranian pediatric case series). iran j child neurol. 2013 summer; 7(3): 63-66.   objective methylmalonic acidemia is one of the inborn errors of metabolism resulting in ...

OBJECTIVE Propionic acidemia is one of the rare congenital neurometabolic disorders with autosomal recessive inheritance. This disorder is caused by a defect in the propionyl-CoA carboxylase enzyme and can be presented with life-threatening ketoacidosis, lethargy, failure to thrive, and developmental delay. MATERIALS & METHODS The patients diagnosed as having propionic acidemia in Neurology D...

With the rapid advances in neurosciences in the last three decades, there has been an exponential increase in the use of neuroimaging both in basic sciences and clinical research involving human subjects. During routine neuroimaging, incidental findings that are not part of the protocol or scope of research agenda can occur and they often pose a challenge as to how they should be handled to abi...

OBJECTIVE The purpose of this article is to use a mechanism-based approach to review the neuroimaging findings of abusive head trauma to infants. Advanced neuroimaging provides insights into not only the underlying mechanisms of craniocerebral injuries but also the long-term prognosis of brain injury for children on whom these injuries have been inflicted. CONCLUSION Knowledge of the traumati...

BACKGROUND l-2-Hydroxyglutaric aciduria is a rare, infantile-onset, autosomal recessive organic aciduria affecting exclusively the central nervous system. To our knowledge, only 1 complete report of the neuropathological findings in an adult has been published. OBJECTIVE To present the clinical, neuroimaging, and neuropathological findings of l-2-hydroxyglutaric aciduria. DESIGN Case report...

Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by pervasive and developmentally inappropriate levels of inattention, impulsivity, and hyperactivity. There is no conclusive cause of ADHD although a number of etiologic theories have been advanced. Research across neuroanatomical, neurochemical, and genetic disciplines collectively support a physiolo...

OBJECTIVE Homocystinuria is a neurometabolic diseases characterized by symptoms include Neurodevelopmental delay, lens dislocation, long limbs and thrombosis. MATERIALS & METHODS The patients who were diagnosed as homocystinuria marfaniod habits, seizure in the Neurology Department of Mofid Children's Hospital in Tehran, Iran between 2004 and 2014 were included in our study. The disorder was ...

An 8-year-old boy, born to a third-degree consanguineous couple with no adverse perinatal events, presented with complaints of delayed development and gait abnormalities. He had global developmental delay with independent ambulation achieved at two years of age and monosyllables at 2.5 years of age. There was no regression. His hearing and vision were normal. He had had two episodes of generali...

A 17-year-old boy presented with somnolence and mental confusion. Physical examination demonstrated motor disturbances. Laboratory investigation showed elevated levels of alpha-fetoprotein in serum and cerebrospinal fluid. The CT scan revealed a heterogeneous mass at the pineal region. At the MRI, this lesion was hypointense on T1 and hyperintense on T2-weighted images, enhancing after contrast...