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Trichothiodystrophy: Report of a New Case With Severe Nervous System Impairment

Pediatric Clinic, Catania University, Catania

Lorenzo Pavone, MD

Pediatric Clinic, Catania University, Catania

Giuseppe Micali, MD

Dermatologic Clinic, Catania University, Catania

Stefano Calvieri, MD

Dermatologic Institut, Roma "La Sapienza" University, Rome, Italy

Licia Di Gregorio, MD

Pediatric Clinic, Catania University, Catania

The authors report a 3-year-old girl affected by trichothiodystrophy and severe nervous system involvement: the patient showed hypotonia since birth, mental retardation, and anomalies of the central nervous system consisting of partial agenesis of the corpus callosum on computed tomographic scan. (J Child Neurol 1992;7:300-303).

Journal of Child Neurology, Vol. 7, No. 3, 300-303 (1992)
DOI: 10.1177/088307389200700311


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