Background: Shwachman-Diamond syndrome (SDS) is a multisystem disorder characterized by exocrine pancreatic insufficiency and bone marrow failure. There is considerable variation in the phenotypes of SDS. We present a case of an infant presenting with SDS and left-sided ptosis. Observation: We report a case of an infant who presented with 2 episodes of severe sepsis and cytopenia, without overt symptoms of exocrine pancreatic deficiency or skeletal abnormalities. Persistent left-sided ptosis was noted in both presentations. Genetic testing confirmed the diagnosis of SDS. The left-sided ptosis was diagnosed as congenital myogenic ptosis. Conclusion: The association of ptosis and other congenital bone marrow failure syndromes is well established, but this is the first description of SDS with ptosis. This association may expand our understanding of SDS phenotypes if similar cases are reported in the future.

Eosinophilic colitis (EC) belongs to a group of idiopathic diseases called eosinophilic gastrointestinal disorders, which are characterized by eosinophil-predominant inflammation in the gastrointestinal tract. Corticosteroids is the first-line pharmacotherapy for EC refractory to diet therapy. We report an infant with steroid-resistant EC, who successfully returned to a healthy growth trajectory under the combined therapy of montelukast and ketotifen. An 8-month-old boy presented with bloody diarrhea, anemia, and failure to thrive (FTT) that started 6 days after birth. The patient has no known allergies. A trial of elementary diet was unsuccessful. The results of several stool cultures were unremarkable. Similarly, lower gastrointestinal series failed to identify anything significant. At 3 months of age, an esophagogastroduodenoscopy with biopsies from the distal duodenum and proximal jejunum were unremarkable. The diarrhea and FTT persisted. A rectosigmoidoscopy with biopsies was performed; the results led to the diagnosis of EC at 5 months of age. Oral prednisolone 1 mg/kg/day was prescribed; however, 3 months into the treatment, persistent bloody diarrhea and FTT were still noted. Montelukast and ketotifen were added, after which diarrhea and weight gain started to improve. Prednisolone and montelukast/ketotifen were tapered off 6 months after. He remains symptom free and has normal growth and development in a 5-year follow-up.

Background: Motor neglect occurs in patients with chronic pain conditions. Virtual environments (VE) help rehabilitation through biofeedback and improving motivation. Aim: To assess the feasibility of a VE for patients with motor neglect with chronic pain. Methods: 10 subjects with chronic pain (Fibromyalgia, Sciatica, and Complex Regional Pain Syndrome) underwent a treadmill task three times per week for two weeks. Groups were randomized to receive real-time biofeedback from the VE (intervention) or shown still images (control). Primary outcomes were: (i) distance walked at baseline compared to the final 5 min cycle of week 2; (ii) the Lower Extremity Functional Index (LEFI) questionnaire. A satisfaction questionnaire was used. Follow up was to 24 weeks. Results: Total distance walked was significantly higher in the intervention group (p < 0.05), and 33% (2/6) of the intervention group had a clinically important LEFI improvement compared to 0/4 in the control group at week 2. No secondary outcome measures demonstrated any significant differences. The intervention received high satisfaction scores, significantly greater than the control group at week 24. No harms were recorded. Discussion: This feasibility study showed that VE and treadmill-walking improved walking distances and function for subjects with motor neglect. This is a promising novel approach and requires further validation through larger study.

Background Neonatal sodium levels are reflective of maternal sodium levels. There is no clear consensus regarding the management of the infant in the setting of maternal peripartum hyponatraemia.Objectives The aim of this project was to determine current management of neonates born to mothers with peripartum hyponatraemia in Royal Jubilee Maternity Services, Belfast. Methods The details of mothers with sodium levels <132 mmol/L from RJMS Delivery suite were retrospectively obtained over a 6 month period (1st March-31st August 2019). The corresponding baby details were searched on the lab system to identify if a U&E had been sent within the first 72 hours life. Of the U&E samples sent, the infant sodium levels were correlated to the maternal sodium level. Management outcomes of the infants were recorded in the following categories: U&E sample obtained, Sodium level categorised (low, normal, or elevated), NICU admission, sepsis screening. Results 95 mothers of a total of 2466 births (4%) were identified with hyponatraemia (Na <132) in the specified 6 month period. Of the infants of these mothers, 26% had a U&E measured within the first 72 hours of life, 35% had screening for early onset neonatal sepsis, 11% were admitted to NICU.Of those infants that had a U&E sample sent: 75% sodium (Na) level of £134, 21% Na 135-145, 4% Na !146. Conclusions The babies of mothers with hyponatraemia are often hyponatraemic. Suggest consideration of routine U&E testing in infants of mothers with Na £130 and paediatric review if neonatal hyponatraemia significant or not quickly resolving.