Clastogen-induced fragility may differentiate pancytopenia of congenital dyskeratosis from Fanconi anaemia.
A male infant is reported with congenital dyskeratosis and pancytopenia Zinsser-Engman-Cole. The bone marrow pathology showed similarities to Fanconi anaemia. Ophthalmological complications were vitreous haemorrhage, haemorrhagic cataracta complicata and glaucoma. Spontaneous and diepoxybutane-induced chromosomal fragility was within the range of normal cells but was elevated through induction with 4-nitroquinoline-oxide. These findings are contrasted with those of Fanconi anaemia.
Schneider
A
A
Abteilung für Kinderheilkunde, Universität Erlangen-Nürnberg, Federal Republic of Germany.
Mayer
U
U
Gebhart
E
E
Harms
D
D
Gromball
J
J
Glöckel
U
U
Beck
J D
JD
D000741:Anemia, Aplastic / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005128:Eye Diseases / Q000150:complications; D005199:Fanconi Anemia / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male; D010198:Pancytopenia / Q000150:complications / Q000175:diagnosis*; D010859:Pigmentation Disorders / Q000150:complications / Q000175:diagnosis*; D013577:Syndrome