Progressive neuronal degeneration of childhood: prenatal diagnosis by MRI

Abstract

We report two cases in the same family of progressive neuronal degeneration of childhood--Alpers syndrome--with prenatal MRI findings in one case. The first infant presented at birth with severe microcephaly, then rapidly evolved to progressive encephalopathy with refractory epilepsy, leading to death at 10 months. Biochemical investigations including liver function tests were normal. CT and MRI showed severe diffuse brain atrophy. The diagnosis of progressive neuronal degeneration of childhood was made on the clinical and imaging data. The second pregnancy was marked by gradual decrease of fetal cerebral biometry and a prenatal MRI performed at 32 weeks showed diffuse cortical atrophy, as observed in the sibling. The infant died at 5 months. Neuropathological findings were consistent with Alpers syndrome.

Rapidly Progressive Neurological Deterioration in a Child with Alpers Syndrome Exhibiting a Previously Unremarkable Brain MRI

“…Discussion & Brain MRI abnormalities have been previously reported in Alpers syndrome [7] . The time of onset of the brain MRI abnormalities appears to be variable and they have been reported as early as in the prenatal period [6] . In our patient, the initial brain MRI performed at 8 months was generally unremarkable ( ᭹ ᭤ Fig.…”

POLG-related disorders

“…Refractory status epilepticus, which can be the first manifestation of the disease, 14 and liver failure are common causes of death, often occurring before the age of 3 years. The MRI abnormalities can be detected prenatally and can be rapidly progressive, 18,22,23 but the MRI can also be normal (figure 3A). 16 -18 Other clinical manifestations include renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss.…”