Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and Cysts.

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a highly pleiotropic disorder, particularly affecting the eye, brain, bone, and gut. The potential catastrophic sequelae of the associated gastrointestinal phenotype, variably characterised by both chronic bleeding and liver failure, is becoming increasingly apparent. Here we report a probable case of CRMCC with pre- and postnatal growth restriction, bilateral exudative retinopathy, a pathognomonic pattern of intracranial calcification, white matter disease, osteopenia with a tendency to fractures, and chronic gastrointestinal bleeding secondary to abnormal dilated vasculature. The gastrointestinal endoscopic findings were characteristic of gastric antral vascular ectasia (GAVE). Treatment with a combination of oral oestrogen and progesterone ameliorated the gastrointestinal blood loss such that monthly blood transfusions could be stopped. The benefit of this relatively benign therapy in managing the potentially life-limiting consequences of an abnormal gastrointestinal vasculature in CRMCC is of great interest.

Outcome for children born after in utero laser ablation therapy for severe twin-to-twin transfusion syndrome.

OBJECTIVE: To examine the postnatal development of a group of children born after in utero laser ablation therapy for severe twin-to-twin transfusion syndrome. DESIGN: Retrospective cohort outcome study involving assessment of neurodevelopment and physical well being. SETTING: Harris Birthright Centre, King's College Hospital, London. PARTICIPANTS: Twins and singleton survivors treated via laser ablation therapy for twin-to-twin transfusion syndrome over a four-year period. METHODS: Of 54 families contacted to participate in the study, who had been treated for twin-to-twin transfusion syndrome during a four-year period, 24 families attended for paediatric assessment; 12 pairs of twins and 12 singleton survivors were assessed for perinatal, neurological and neurodevelopmental outcome using the Griffiths scales of mental development. A further 20 families were assessed via a proforma after contact with their general practitioner. A comparison of these groups showed no significant differences in sociodemographic factors or severity of disease between responders (44 families, 81.5%) and non-responders (10 families). RESULTS: The group of children assessed by a paediatrician had low birthweight (1619g donor, 1814g recipient, 1877g singleton) and had been born preterm (33 weeks twins, 31.2 weeks singleton) with attendant increased resuscitation, neonatal unit admission (mean 40 days) and instrumental delivery. Mean Griffiths scores were within the normal range of ability (91.2 donor vs 97.7 recipient and 101.6 singletons) with the only significant difference being in the locomotor subscale where donor (82.6) and recipient (85.3) were less than singletons: -99.1 (P < 0.05). There was no cerebral palsy in the singleton survivors, but there were five cases in the twin group. All except one affected child (with quadriplegia) had mean Griffiths scores in the normal range. In the GP proforma group there was one case, in a twin, of cerebral palsy. CONCLUSION: The overall cerebral palsy rate was 9%: 0% in the singleton survivors group and 13.3% in the twin survivors group. This pilot data highlights the need for careful long term follow up of children affected by twin-to-twin transfusion syndrome.