Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene.

Microcephalic osteodysplastic primordial dwarfism syndrome II (MOPDII) is microcephalic primordial dwarfism and is a very rare form of disproportionate short stature. This disorder shares common features with other forms of microcephalic primordial dwarfism, including severe prenatal and postnatal growth retardation with marked microcephaly. However, it includes characteristic skeletal dysplasia, abnormal dentition and increased risk for cerebrovascular diseases. Recent reports added more features, including café-au-lait lesions, cutis marmorata, astigmatism, Moyamoya disease, insulin resistance, obesity, abnormal skin pigmentation and acanthosis nigricans around the neck. Clearly, the more MOPDII reports that are produced, the more information will be added to the spectrum of MOPDII features that can improve our understanding of this disorder. In this paper, we reported a new case of MOPDII with more severe clinical features, earlier onset of common features, in addition to a homozygous novel variant in the PCNT gene.

Persistent feeding difficulties among infants with fetal opioid exposure: mechanisms and clinical reasoning.

Aims: Infants with fetal exposure to opioids have varying pattern of feeding difficulties mainly manifesting as difficulties with aerodigestive adaptation and disruptive feeding behavior. The reasons are unclear; in a pilot study, we determined basal and adaptive pharyngo-esophageal motility in a group of infants with fetal exposure to opioids and persistent feeding difficulties impeding their discharge. Methods: Six infants with fetal opioid exposure compared to 12 controls who underwent basal and adaptive pharyngo-esophageal manometry to characterize the basis for their symptoms. Spontaneous swallows (N = 180) and pharyngeal stimuli (N = 113)-induced swallowing responses were analyzed. Results: Resting upper esophageal sphincter (UES) pressure was similar in both the groups, but resting lower esophageal sphincter (LES) pressure was significantly high and it relaxed slowly and inadequately in opioid-exposed infants (p < .05). Upon pharyngeal provocation, opioid-exposed infants had higher LES nadir pressure, increased duration of esophageal body contraction at proximal-, mid-, and distal-esophagus, as well as greater area under the curve with distal esophageal waveforms, compared to controls (all p < .05). Conclusions: These pilot observations are suggestive of up-regulation of central vagal effects with heightened cholinergic excitatory responses and inadequate relaxation responses at the foregut, and may form the basis for persistent feeding difficulties in opioid-exposed infants. Abnormality with both sensory and motor aspects of vagal reflexes may be contributory.

Are diet and feeding behaviours associated with the onset of and recovery from slow weight gain in early infancy?

Infants with slow weight gain cause concern in parents and professionals, but it is difficult to be certain whether such infants are genetically small or whether their energy intake is insufficient. The aim of the present study was to assess the impact of diet and feeding behaviours on slow weight gain early in infancy. The sample was 11 499 term infants from the Avon Longitudinal Study of Parents and Children (ALSPAC). A total of 507 cases of slow weight gain from birth to 8 weeks were identified and the remaining 10 992 infants were used as controls. It was found that infants who gained weight slowly between birth and 8 weeks were more likely to exhibit feeding problems such as weak sucking and slow feeding during this period. Feeding problems were substantially reduced during the recovery phase (8 weeks to 2 years) when these infants exhibited enhanced catch-up in weight. The proportion of mothers breast-feeding in the 4th week after birth was higher for slow weight gainers, but they were more likely to switch to formula at the start of recovery. During recovery, slow-weight gain infants had a slightly higher energy intake from formula and solids than controls. In conclusion, feeding problems seem to be the most important factors associated with the onset of early slow weight gain. Subsequently, a reduction of feeding problems and an increase in overall energy intake may contribute to their weight recovery. Health professionals should look for feeding problems in the first few weeks after birth and help mothers establish adequate feeding practices.