No abstract

Objectives-The syndrome of X-linked sideroblastic anaemia with ataxia is rare, described only twice in the literature. The aim was to obtain clinical neurological and haematological data about this rare syndrome throughout adult life. Methods-A family is described with two aVected brothers and two aVected maternal uncles. The family was evaluated clinically. (J Neurol Neurosurg Psychiatry 2001;70:65-69)

A 30-year-old primigravida presented to the delivery suite at 36 weeks gestation with a three-hour history of decreased fetal movements. Her antenatal history was unremarkable. CTG showed a sinusoidal pattern with a baseline of 135 bpm but absent decelerations. An ultrasound scan showed the growth and amniotic fluid parameters to be within normal limits. Umbilical artery Doppler studies were normal but fetal movements were observed to be absent during the examination. As there was a suspicion of fetomaternal haemorrhage, a Kleihauer test was requested and was noted to be strongly positive. The CTG trace continued to be abnormal with development of decelerations ( Figure 1).A decision for emergency caesarean section was made. A live, pale infant weighing 3500 g was delivered with Apgar scores of 7 at 1 minute and 8 at 5 minutes. The child was immediately intubated and ventilated. The haemoglobin of the infant at birth was 3.4 g/dL, necessitating transfusion, and the pH of the umbilical arterial blood was 6.9. No reticulocyte count was carried out, although the mean corpuscular volume was raised at 110.8 fL. The histological examination of the placenta was normal. Subsequent problems encountered included pneumothorax requiring a chest drain, and pulmonary hypertension.The child was subsequently transferred to a tertiary centre for oscillation ventilation and nitric oxide. The subsequent course remained stormy, the infant enduring a cardiac arrest, pulmonary haemorrhage, sepsis and requiring repeat transfusions. The infant had grade I intraventricular haemorrhage, requiring phenobarbitone, but is now doing well.The mother was Rhesus (D) positive, and so did not require anti-D gamma globulin.