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L Rubio Morales

Publications and source records attributed to L Rubio Morales.

3 recordsLinked to original sources
PubMed2005

[Dehiscence of the superior semicircular canal: report of a case and bibliography review].

We present a case of deficiency of the superior semicircular canal (SSCD) in a 37 years old patient that came to us because of episodes of subjective vertigo in response to intense sounds (Tullio phenomenon). The audiometry, electronistagmography, timpanometry and stapes reflexes were normal and the fistula test was negative. The CT scan showed an absence of bone overlying the superior semicircular canal (SSC) of the right ear and the left ear was normal. When both ears were exposed to intense sounds, only the right one presented vertigo was, without nystagmus.

Adult↗
PubMed2000

[Severe neonatal mitochondrial cytopathy caused by isolated COX defect].

We report a neonate with isolated cytochrome c oxidase (COX) defect and severe multisystemic involvement. The patient had severe encephalopathy, predominant since birth, and died due to hypoxic-ischemic myocardiopathy. He was the second son of non-consanguineous, healthy parents who also had a daughter with chronic encephalopathy. The neonate presented dysmorphic phenotype, hepatic and muscular involvement, and possibly tubular involvement. Metabolic studies revealed markedly increased lactic/pyruvic concentrations. Diagnosis was based on muscular enzymatic studies and ultrastructural mitochondrial anomalies, while the mitochondrial DNA and results of the COX technique were normal. Histological examination revealed a massive subendocardial infarction. Aspects of this entity with relevance for genetic counseling are discussed.

Cytochrome-c Oxidase Deficiency↗