Retinopathy and bone marrow failure revealing Coats plus syndrome

Description The inherited bone marrow failure syndromes (IBMFS) are a group of clinically heterogeneous disorders in which at least one hematopoietic cell lineage is significantly reduced in number. 1 Dyskeratosis congenita (DC), an IBMFS caused by germline defects in telomere biology, is diagnosed by the presence of the classic clinical triad of nail dysplasia, lacy skin pigmentation and oral leukoplakia. There are clinical variants of DC, namely Hoyeraal-Hreidarsson syndrome, Revesz syndrome, and Coats plus syndrome (CpS) or cerebroretinal microangiopathy with calcification and cysts. 2 CpS is a very rare disorder in which the most characteristic features are: retinal telangiectasia and exudates (Coats disease); distinctive pattern of intracranial calcification with an associated leukodystrophy and brain cysts; osteopenia, and a high risk of life-limiting gastrointestinal bleeding and portal hypertension caused by the development of vascular ectasias in the stomach, small intestine and liver. 3 We report the case of a 10-year-old boy with a history of parental consanguinity, and personal history of intrauterine growth restriction since the 24th week of gestation, preterm delivery at 32 weeks, minor motor and cognitive development delay, exudative retinopathy since the age of 6 months and pathological fractures of femur and tibia. Bone marrow biopsy and aspirate revealed a hypocellular bone marrow with marked reduction of all haematopoietic series, without maturation anomalies or myelodysplasia.