Quistes del colédoco: experiencia institucional, Clínica del Niño / Cysts of the common bile duct: Institutional experience, Child's Clinic

Los quistes del coledoco son lesiones poco frecuentes y aunque su etiologia no ha sido claramente determinada, su clasificacion y tratamiento han sufrido modificaciones a lo largo del presente siglo, existiendo aun controversia sobre el ultimo y su potencial maligno. Se presenta una revision bibliográfica y la experiencia institucional en un centra pediátrico de tercer nivel durante los ultimas 3 años.

Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation.

OBJECTIVE: Ophthalmologic and neurologic manifestations of the mitochondrial DNA mutation at position 8993 (MTATP*NARP8993) are reported and compared with previously published reports of patients with the 8993 mutation and other mitochondrial disorders. DESIGN: Pedigree analysis. SETTING: University referral center. PATIENTS: Eight subjects from two unrelated pedigrees that were positive for the mitochondrial DNA replacement mutation at nucleotide position 8993 were evaluated ophthalmologically and neurologically. RESULTS: Retinal abnormalities ranged from mild salt-and-pepper changes to severe retinitis pigmentosa-like changes with maculopathy. Neurologic manifestations were also highly variable and ranged from migraine headaches to severe dementia and Leigh's disease. CONCLUSIONS: The type and extent of retinal pigmentary changes and neurologic findings varied substantially, even among members of the same family. These changes, although not specific for the MTATP*NARP8993 mutation, are highly suggestive of mitochondrial disease.

Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation.

Subacute necrotizing encephalopathy (SNE) or Leigh's disease is associated with various defects in oxidative phosphorylation (OXPHOS). However, the relationships between these OXPHOS defects and nuclear DNA or mitochondrial DNA (mtDNA) mutations is still unclear. We evaluated three SNE pedigrees (two singleton cases and a pedigree) biochemically for OXPHOS abnormalities and genetically for four mtDNA point mutations. There was a complex I defect in all three pedigrees that was associated with a complex III defect in two individuals. An mtDNA mutation in the ATPase, subunit 6 gene (np 8993) was present in one SNE pedigree. This mutation was maternally inherited, heteroplasmic, produced marked clinical and biochemical heterogeneity between pedigree members, and varied along the maternal lineage at levels ranging from 0% to > 95% of the total mtDNAs. These mtDNA mutations were not present in the other two pedigrees. These observations emphasize the importance of screening for OXPHOS defects and mtDNA mutations in SNE cases.

Optic disk cupping and electrocardiographic abnormalities in an American pedigree with Leber's hereditary optic neuropathy.

We examined the clinical characteristics of affected and unaffected members of an American black family with the 11778 mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Thirty-six individuals from four generations were included. All maternally related subjects were shown to be essentially homoplasmic for the 11778 mitochondrial DNA mutation in blood. Paternally related subjects did not carry this mutation. Patients affected with optic neuropathy had optic nerve head cupping. Loss of unmyelinated axons from the prelaminar optic nerve may be responsible for cupping in these patients. Electrocardiographic analysis of subjects carrying the 11778 mitochondrial DNA mutation disclosed statistically significant (P = .02) prolongation of the corrected OT interval as compared to control subjects. While the clinical significance of this magnitude of corrected QT prolongation is unknown, it may represent a systemic manifestation of the 11778 mutation. No electrocardiographic evidence of preexcitation syndromes was seen.

Examination of macular vitreoretinal interface disorders with monochromatic photography.

Monochromatic light accentuates details of different retinal layers because of its variable absorption and reflectance by structures both within and above these layers. Monochromatic photography was used to examine macular vitreoretinal interface abnormalities in 19 patients. Short wavelength photographs (490 nm) provided the best detail of inner retinal abnormalities, including epiretinal membranes, vitreoretinal traction, and the internal surface of confluent macular edema (pseudocyst). Although 540-nm red-free photography provided acceptable photographs, it did not provide optimal detail of inner or deep retinal abnormalities. Longer wavelengths, 585 and 610 nm, best disclosed the extent of deep retinal abnormalities, including the extent of confluent macular edema (pseudocysts) and retinal detachment that surrounded macular holes. The addition of short- and long-wave-length photography to traditional red-free photography may provide better localization, understanding, and documentation of the three-dimensional relationships in macular vitreoretinal interface disorders.