Alpers progressive infantile neuronal poliodystrophy: An acute neonatal form with findings of the fetal akinesia syndrome

Abstract

We report on 8 patients from two families with Alpers syndrome. The onset in one family was prenatal and in the 4 patients who were examined, severe microcephaly, intrauterine growth retardation, and typical manifestations of fetal akinesia, including retrognathia, joint limitations, and chest deformity were found. The second family presented with an early infantile form. All the affected offspring had micrognathia and one had findings of fetal akinesia, comparable to those seen in the other family. Microcephaly was mild at birth and progressed with age. Refractory neonatal convulsions, swallowing difficulties, and pneumonia complicated the clinical course of patients in both families, and all the patients died before age 20 months. Results of comprehensive biochemical and metabolic studies in both families were normal and the diagnosis was supported by demonstration of extensive progressive brain atrophy on CT and typical histological findings. Patients without a detectable defect in energy metabolism and normal liver histology comprise a distinct subset of Alpers syndrome. Until the metabolic defect(s) is defined, we suggest naming the acute neonatal form of this subset of Alpers syndrome "type 1."

The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome

“…Both juvenile and neonatal forms are very rare. Persistent seizures, hypotonia, recurrent vomiting, and rarely cardiomyopathy result in death before the childhood in neonatal-onset AHS 5 . This report aimed to describe the newborn case of AHS due to the 7706G˃A missense mutation in the Cox Ⅱ gene first diagnosed while alive in the literature.…”

“…In a study by Frydman M. et al, eight patients from two families were reported 5 . Four cases had convulsions in the first ten days, and one case died at fourteen days of age However, as reported, differential diagnoses were made with clinical and brain MRI/CT.…”

Autosomal recessive microcephaly with neonatal myoclonic seizures: Clinical and MRI findings

“…The second patient was described before as suffering from Alper's disease [Frydman et al 1993]. However, there was no evidence of liver disease; no demonstrable specific metabolic defect, mitochondrial dysfunction, or energy metabolic defects; nor were there typical changes of fetal akinesia.…”

Alpers–Huttenlocher syndrome presenting with epilepsia partialis continua

“…Both the neonatal and the juvenile forms are rare. In the neonatal form, refractory convulsions, liver failure and occasional cardiomyopathy result in death before two years of age, 5 while the juvenile form presents between 10 and 27 years of age with migraines, visual impairment, progressive myoclonus, spasticity, choreoathetosis, dementia and premature death due to intractable epilepsy. 6 The commonest type is the infantile form with its onset usually before 2 years of age, but it can range between 3 months to 8 years.…”