Brain magnetic resonance imaging and outcome after hypoxic ischaemic encephalopathy

<div><p></p><p><i>Objective</i>: To correlate pattern of injury on neonatal brain magnetic resonance imaging (MRI) with outcome in infants ≥36 + 0 weeks gestation with hypoxic ischaemic encephalopathy.</p><p><i>Methods</i>: Prospective cohort study. Images were blindly reviewed. Children were assessed using a variety of standardised assessments.</p><p><i>Results</i>: MRI brain was performed on 88 infants. Follow up was available in 73(83%) infants. Eight of 25(32%) children with normal imaging had below normal assessment scores. Eight infants (12%) had isolated punctate white matter lesions and five of these had abnormal assessment scores. Death and cerebral palsy were seen only in children with imaging scores ≥3 on basal ganglia/thalami (BGT) score or ≥4 on watershed score. No developmental concerns were raised in 3/7(43%) infants with isolated watershed injury. Ten of 13(77%) infants with isolated BGT injury died or developed cerebral palsy. All 23 children with posterior limb of the internal capsule (PLIC) injury displayed developmental difficulties.</p><p><i>Conclusions</i>: Almost one-third of infants with a normal MRI brain may be at risk of developmental problems. Punctate foci of white matter injury are common and not always benign. PLIC involvement is usually associated with neurological sequelae including isolated cognitive deficits<i>.</i> Worst outcomes are associated with basal ganglia injury.</p></div

Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

<p>Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry</p

Ages at unsupported sitting acquisition in each group of patients defined by their genotype.

<p>Cumulative probability of acquiring unsupported sitting by patients presenting the E815K mutation, compared to patientsmutation (3b). Patients with the E815K mutation are likely to gain unsupported sitting at a later age than patients in each of the other groups (respectively P = 0.0002 and P = 0.0020).</p

Schematic representation of <i>ATP1A3</i> mutations.

<p>Mutations identified in our cohort are indicated above the gene; all the mutations previously published are indicated in black; novel mutations are indicated in light blue; mutations identified in multiplex cases are underlined; mutations reported in DYT12 are indicated in green; the mutation reported in CAPOS syndrome is indicated in red. The mutation associated with a phenotype combining features of both AHC and RDP is in orange. The 2 most common mutations are in bold. Asterisks mean that 2 different nucleotide changes have been identified for these protein variants.</p

Summary of the 187 patients included in the genetic study.

<p>Summary of the 187 patients included in the genetic study.</p

Ages at onset of AHC in each group of patients defined by their genotype.

<p>The horizontal lines in the boxes indicate the 25th percentile (bottom), the median (middle) and the 75 percentile (top) values. Crosses indicate the mean values. Numbers of patients analyzed in each group are indicated above the boxes.</p

Odds ratio for occurrence of status epilepticus in AHC patients with different <i>ATP1A3</i> mutations.

<p>Odds ratio for occurrence of status epilepticus in AHC patients with different <i>ATP1A3</i> mutations.</p

Summary of 164 AHC patients included in the genotype-phenotype correlation study.

<p>Summary of 164 AHC patients included in the genotype-phenotype correlation study.</p