[X-linked adrenoleukodystrophy. A case report].
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Adrenoleukodystrophy↗
Biomedical subjects
Publications and source records attributed to T Lloret Sempere.
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A two-year old male affected by Joubert Syndrome (cerebellar vermix agenesis, mental retardation, respiratory rythm disturbs, ataxia and abnormal eye movements) is reported. A review of literature of fourteen previous cases is done. Early diagnosis of this syndrome is very important for later prognosic and genetic advice. Authors point out the usefulness of CT scan for diagnosis.