The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Four patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency are presented. Clinical onset in the form of acute encephalopathy occurred between the ages of 9 months and 3 years. The clinical course included recurrent metabolic crises in 4 patients, cardiac involvement and retinopathy in 3, and myopathy in 2. None had signs of peripheral neuropathy. Three patients died and one is currently well. Hypoketotic hypoglycemia with C6-C14 3-hydroxy-dicarboxylic aciduria during metabolic crises associated with decreased plasma carnitine levels was the main biochemical finding. Enzymologic studies disclosed long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency in all patients. Homozygosity for a G to C mutation at position 1528 in the encoding region of the enzyme was found in 2 patients. Histologic and electron microscopic studies of liver biopsy specimens revealed steatosis in 3 patients and mitochondrial abnormalities in 2. Skeletal muscle biopsies disclosed nonspecific degenerative changes in 2 patients and were normal in the remaining 2. Ultrastructural abnormalities in mitochondria were found in 3 patients. A review of the literature combined with the data from our series (total 22 patients) disclosed acute clinical onset in 77% of cases and subacute in 23%. In the combined series, the average age at onset was 11 months, family history was positive in 32% of patients and overall mortality was 50%. We describe the clinical spectrum of this disease and emphasize that, among patients with suspected beta-oxidation defects the finding of pigmentary retinopathy should lead to the suspicion of long-chain 3-hydroxyacyl-coenzyme A-dehydrogenase deficiency.

Sonography of the eye in children: imaging findings.

Real-time sonography is a well-accepted technique for evaluating abnormalities of the eye. Most previous reports on sonography of the eye have been in adults [1]. In this pictorial essay, we illustrate normal and abnormal findings of ocular sonography in children.

Ophthalmoscopic evolution of papillary colobomatous malformations.

We describe congenital colobomatous malformations of the optic nerve and the clinical variations and complications that may appear eventually in them. We also present two clinical cases of patients with papillary colobomatous defects where spontaneous variations have been observed throughout their evolution and where the current ophthalmoscopic aspect is completely different from the initial one. Finally, bearing in mind the embryologic origin and histologic structure of these anomalies, we develop a hypothesis that explains the physiopathologic mechanism that causes the clinical changes described in each case.

Cytomegalovirus retinitis in pediatric acquired immunodeficiency syndrome: report of two cases.

Two cases of cytomegalovirus retinitis in pediatric acquired immunodeficiency syndrome (AIDS) are described. The first case was a 7-month-old infant who received an HIV-infected blood transfusion in 1983. The infant was treated with specific anti-cytomegalovirus immunoglobulin. The second case was an 8-year-old hemophiliac child who received HIV-infected factor VIII concentrates. Intravenous ganciclovir therapy resulted in marked improvement of ocular lesions. This is, to our best knowledge, the first report of pediatric AIDS-induced retinopathy resulting from postnatal intravenous causes.

Aplasia of the optic nerve: report of three cases.

Aplasia of the optic nerve is a very rare congenital anomaly characterized by an absence of optic nerve fibers, retinal ganglion cells, and the retinal central blood vessels. It may be associated with a wide range of other congenital abnormalities. In the present article, three cases of aplasia of the optic nerve are described. Its pathology and clinical features are reviewed.

Lipids of the developing human retina: I. Total fatty acids, plasmalogens, and fatty acid composition of ethanolamine and choline phosphoglycerides.

The total fatty acid composition of the human retina was studied during early normal development and compared to that found in infancy and in adulthood. The retina of an infant undernourished prenatally and of two malnourished postnatally were also studied and compared to the normal values for the age. The fatty acid patterns of ethanolamine phosphoglycerides (EPG) and choline phosphoglycerides (CPG) were also studied. Total and ethanolamine plasmalogens (EP) were estimated by the aldehyde dimethyl acetal (DMA) content of total lipids and of EPG, respectively. After acid methanolysis, analyses of fatty acid methyl esters (FAME) and of DMA were effected by capillary GLC on a single 30 m long, SP-2330, capillary column. The main developmental fatty acid changes were an increase in 22:6 omega 3, 22:5 omega 3 and 20:3 omega 6 and a decrease in 20:4 omega 6. The 22:6 omega 3/20:4 omega 6 ratio increased in a very significant, parabolical way throughout development. In contrast to the brain, the proportion of ethanolamine plasmalogens decreased with maturation, whereas the ratio 18DMA/16DMA increased. The two postnatally malnourished infants had a very significant increase in retinal 22:5 omega 6, but only the child that had been fed on a very unbalanced omega 3/omega 6 diet since 25 weeks of gestation showed an important decrease in retinal 22:6 omega 3.

Infantile idiopathic hypercalciuria, high congenital myopia, and atypical macular coloboma: a new oculo-renal syndrome?

Four cases of infantile idiopathic hypercalciuria with high congenital myopia and atypical macular coloboma are discussed; two of them are brother and sister. The eye examination shows bilateral congenital myopia of more than 10 diopters in every case. In the fundus examination, there is a bilateral macular colobomatous lesion in two of them and monocular lesion in the remaining ones. Hypercalciuria is considered to be due to renal tubulus malformation. The macular atypical coloboma etiopathogenesis is discussed, with comment on the malformative, dystrophic and inflammatory hypothesis, having discarded the usual inflammatory etiologies. We have only found two cases similar to these in the literature, Given the relative scarce occurrence of each of the three mentioned clinical features we suggest the possibility of a new oculo-renal syndrome rather than a coincidental association.