Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I deficiency

Abstract

A newborn male with mitochondrial complex I deficiency suffered from neonatal epileptic seizures, which later developed into infantile spasms. The infant was blind due to aplasia of the retinal vessels and hypoplasia of the optic nerve. There was congenital lactic acidosis, which persisted in later life. The boy was microcephalic and retarded. Muscular hypotonia later shifted to spasticity. Succinic acid was increased in urine. We assume that the aplasia of the retinal vessels is due to damage of the retinal ganglion cells caused by the mitochondrial disease in the first 3 to 4 months of pregnancy.

Analysis of Clinical Misdiagnoses in Children Treated With Enucleation

“…Furthermore, observational analyses showed that those with the highest serum lutein level and those with the highest increase in intraretinal macular pigment optical density (ie, a measure of intraretinal lutein) had the least decline in midperipheral field sensitivity (P=.01 and P=.006, respectively). 1 Based on our results, 1,4,5 we reaffirm that most adults with typical retinitis pigmentosa should take 15 000 IU/d of vitamin A palmitate. They should avoid high-dose vitamin E supplementation.…”

“…They should avoid high-dose vitamin E supplementation. 4 Adults who start taking vitamin A for the first time should also take 1200 mg/d of docosahexaenoic acid (DHA) for 2 years; after 2 years, they should stop tak-…”

Analysis of Clinical Misdiagnoses in Children Treated With Enucleation—Reply

“…We have carefully evaluated the data from the trial and view that the authors' conclusion and the section on "Application to Clinical Practice" overstate the strength of evidence for the use of lutein. 1 Based on our results, 1,4,5 we reaffirm that most adults with typical retinitis pigmentosa should take 15 000 IU/d of vitamin A palmitate. 2,3 In the Physicians' Health Study evaluating aspirin, the paucity of cardiovascular deaths led to revision of the primary endpoint to include nonfatal myocardial infarction; aspirin was then found effective in preventing primary heart attacks.…”

“…We wish to remind the clinical community that the evidence adduced for benefit comes from one of several secondary outcomes in a trial in which the primary outcome showed no evidence of benefit (the P value for the effect on Humphrey field analyzer 30-2 field, dB/y was .66). 4 Adults who start taking vitamin A for the first time should also take 1200 mg/d of docosahexaenoic acid (DHA) for 2 years; after 2 years, they should stop tak- 2 The Women's Health Study assessed aspirin's efficacy in preventing heart attack in women older than 45 years.…”

Sotos syndrome associated with West syndrome and a visual disorder

“…Initially it was very difficult to make a diagnosis of Sotos syndrome in our case, due to several symptoms, such as the visual disorder. There has been a case report of mitochondrial complex I deficiency accompanied by West syndrome and blindness 3 . Therefore, we suspected a mitochondrial disease or some non‐progressive congenital myopathy and took a muscle specimen for biopsy, but no abnormality was observed.…”