Functional observations in vitamin A deficiency: diagnosis and time course of recovery.

AIMS: To describe the effects of vitamin A deficiency (VAD) on retinal function and the subsequent recovery following treatment in three patients with systemic conditions (two with Crohn disease; one secondary to IgE syndrome). METHODS: Electrophysiological testing (including pattern electroretinogram, PERG; electroretinogram, ERG; visual-evoked potential) established the diagnosis of VAD. Repeat testing was carried out in two patients to monitor the time course of recovery following intramuscular vitamin A injection. The third patient had repeat recordings following 13 months of oral supplementation. RESULTS: All three patients initially displayed a characteristic absence of rod function associated with VAD. In addition, delayed and reduced amplitude cone ERGs, loss of short wavelength cone (S-cone) function and subnormal macular function were observed in two patients. Restoration of rod and generalised cone function was rapid in the two patients who received intramuscular injection, with normalisation of some electrophysiological responses after only 3 days. Normal S-cone amplitudes and cone latencies were reached within 12 days of vitamin A injection. Macular function returned to within normal limits by 12 days postinjection in one patient, but remained mildly subnormal in the second patient. Full recovery was present after 13 months oral supplementation in the third patient. CONCLUSIONS: Novel observations regarding dark-adapted cone function, S-cone function, and PERG are presented. The differences between the effects of VAD on rod and cone function, and their rate of recovery, may reflect differences in the visual cycle between the two photoreceptor classes. The importance of rapidly and accurately diagnosing VAD, a treatable condition, is noted.

Previously unrecognized form of familial spondyloepiphyseal dysplasia tarda with characteristic facies.

Three sibs, the offspring of first cousin Pakistani parents, are reported with an apparently 'new' form of spondyloepiphyseal dysplasia with microcephaly, unusual facies and moderate developmental delay.

The influence of perinatal risk status on contingency learning in six- to thirteen-month-old infants.

Learning of a manipulative response was examined in 6-13-month-old well babies and in risk infants who, in the perinatal period, had experienced a range of respiratory interventions (low- and high-risk). 2 contingency conditions (contingent and yoked) were crossed with 2 locations of feedback (local and remote). Both well-baby and low-risk groups reliably discriminated between contingent and noncontingent feedback when it was presented locally, whereas high-risk babies failed to make this distinction in the conditioning phase. Risk status reliably predicted the learning performance. No response acquisition was obtained in the remote feedback condition. In extinction, the well-baby and low-risk groups decreased their responding, but the high-risk group showed an initial response burst. The findings are discussed in the context of risk-related differences in contingency awareness and frustrative nonreward. Overall, the results confirm that the effects of perinatal compromise involving respiratory complications influence infants' processing of contingency information during the first year of life.

The relationship between encoding, discriminative capacities and perinatal risk status in 4-12-month old infants.

Response decrement and recovery to a novel visual stimulus was examined in 4-12-mth old infants. High (HR) and low (LR) perinatal risk groups were compared to well babies. For abstract stimuli, well babies showed response decrement and recovery to novelty; LR infants revealed some decrement, but no recovery; and the HR group failed to show either. Using face stimuli (Experiment 2) all groups showed decrement and recovery. Cluster analyses revealed that HR infants were more likely to be found in low information-gain clusters. Infants of lower GA who required perinatal respiratory intervention showed less efficient encoding and poorer discrimination of abstract stimuli.

Benign intracranial hypertension after ciprofloxacin administration.

Many drugs, including antibiotics, have been implicated in the aetiology of benign intracranial hypertension. We report the development of benign intracranial hypertension after the use of ciprofloxacin in a teenager with cystic fibrosis.

Autosomal recessive microcephaly, mental retardation with nonpigmentary retinopathy and a distinctive electroretinogram.

The association of microcephaly and mental retardation with a non-pigmentary retinopathy is described in three siblings of consanguineous parents. The electroretinogram showed the distinctive appearance of markedly attenuated "b" wave but normal "a" wave suggestive of a retinal dystrophy primarily affecting post-receptoral elements in the inner retina. This appears to be an autosomal recessive condition which has not been previously reported.

Psychological care of survivors of a fire.

A mother and daughter were the sole survivors of a house fire. Support, maintenance of the parent-child relationship, and monitoring and facilitating the grieving process in a way that was consistent with the developmental stages of the patients were the basis of management.

Artificial food additive intolerance in patients with angio-oedema and urticaria.

43 children who presented with angio-oedema and/or urticaria and who responded to an additive-free diet were challenged with artificial food additives in a double-blind study. 24 children reacted to 1 or more of the additives. 18 children did not react to any additives and remained well when a normal diet was re-introduced. Aspirin sensitivity was found in only 1 of the 24 children who could not tolerate additives. Atopy was less common in these patients than in the general population. The mechanism of additive intolerance is unknown and double-blind challenge is the only reliable means of diagnosis.

Reappraisal of linoleic acid requirement of the young infant, with particular regard to use of modified cows' milk formulae.

Most infants in the UK are bottle fed with cows' milk formulae that are alleged to provide less than the minimum requirement for linoleic acid, i.e. 1% of the total dietary energy. 20 term infants fed solely on a modified cows' milk formula that provided 0.55% of the energy from linoleic acid were therefore examined for evidence of deficiency. Rates of growth in length and weight, measured during the first 3 months of life, were identical with those of 20 wholly breast-fed infants. Voluntary food intakes (kcal/kg per day) followed the normal pattern. The fatty acid composition of the plasma lipids showed changes characteristic of a low intake of linoleic acid, but triene:tetraene ratios did not indicate a deficiency state, and clinical signs of deficiency were not observed. These findings suggest that the requirement for linoleic acid is substantially less than was formerly believed. The small amount of alpha-linolenic acid present in cows' milk may however exert a sparing effect on linoleic acid.

Bubble clicking in pharyngeal aspirate compared with lecithin/sphingomyelin ratio.

Tracheal fluid flows into the pharynx, so surfactant can be measured in pharyngeal aspirate. The walls of bubbles in air-free water show rhythmic movements (bubble clicking) if they contain surfactant. Babies with respiratory distress syndrome (RDS) have very little lung surfactant which can be shown by a low lecithin/sphingomyelin (L/S) ratio. To investigate surfactant in newborn babies we analysed 125 pharyngeal aspirates for the L/S ratio and bubble clicking. Both tests became more positive towards term and were related to the incidence of RDS. Babies with birth asphyxia or mild respiratory difficulties had lower L/S ratios and less clicking than normal babies. Both investigations could be used to chart the course of RDS. The L/S ratio is a chemical measurement of surfactant. Bubble clicking, which takes only a few minutes, demonstrates surface tension effects.