Background: Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe midface hypoplasia, leading to choanal atresia. The radiological findings include generalized osteosclerosis and brain calcifications. RS is usually lethal during the neonatal period due to severe respiratory distress. However, there exists a non-lethal RS form, the phenotype of which is extremely heterogeneous. There is paucity of data about clinical course and life expectancy of these patients. Results: This is the first description of follow-up features of non-lethal RS patients. Moreover, we present three unpublished cases. There are five Asian and two Arab patients. All were born to consanguineous parents. The most common neonatal comorbidity was respiratory distress secondary to choanal atresia. A variable degree of neurodevelopmental delay was seen in the majority of our cases and seizures and hearing or vision involvement were also frequent. Neurological and orthopedic issues were the most frequent complications seen at follow-up in our group. Persistent hypophosphatemic rickets was the most striking endocrinological manifestation, which was scarcely responsive to therapy with phosphate salts and alfacalcidol. Life expectancy of our patients goes beyond childhood, with the oldest of those described being 18 years old at present. Conclusions: Manifestations of RS in those surviving the neonatal period are being increasingly recognized. Our study supports previous findings and provides clinical and biochemical observations and data from longer follow up. Finally, we propose multidisciplinary follow up for patients with non-lethal RS.
Background and Aim: To analyze the influence on weight gain of infants exposed to two dosage regimens of oral caffeine citrate (CC) for apnea of prematurity.Methods: Retrospective descriptive observational study of an eligible very low birth weight cohort over a 15-year period in an Irish University hospital. Data were analyzed between two distinct postnatal ages: 14–28 and 29–56 days.Results: During the 15-year study, 457 infants were prescribed caffeine. Among the 14–28-day group, after applying exclusion criteria, 418 infants qualified. Two hundred forty-eight infants received 5 mg/(kg·day) and 170 received 10 mg/(kg·day) of CC. Among the 29–56-day group, 362 infants were identified and after applying exclusions, 332 fulfilled entry criteria [214 on 5 mg/(kg·day) and 118 on 10 mg/(kg·day) regimen]. Baseline characteristics of infants were comparable between groups without statistically significant differences. Mean daily weight gain (MDWG) in grams from day 14 to 28 showed a higher rate of increase for the 5 mg/(kg·day) group compared with the 10 mg/(kg·day) group (17.2 ± 12 g vs. 13.0 ± 10.2 g [p = 0.04]). From day 29 to 56, also MDWG was higher among infants on 5 mg/(kg·day) of CC compared with 10 mg/(kg·day) group (15.6 ± 10.8 g vs. 10.2 ± 9.8 g [p = 0.011]).Conclusion: While a variety of measures are optimized to promote postnatal weight gain of premature infants close to an ideal intrauterine growth curve, not paying sufficient attention to one of the most widely used catabolic agents in neonatology is questionable and warrants vigilance. Additional nutritional measures could be offered to those with prolonged caffeine exposure.
Acute appendicitis is an infrequent condition in neonates, especially in term infants. With around 100 cases in the last century and no specific diagnostic tool, this case report is an addition to the existing literature that helps in our understanding of the disease. A preterm infant who had greenish aspirates and dilated bowel loops on abdominal x ray and was treated on the lines of necrotizing enterocolitis failed to improve. Baby had issues of abdominal distension whenever feeds were started hence exploratory laparotomy was done on the 45th day of life which showed appendicitis with adherent terminal ileum, caecum, and appendix. Two months after the surgery, the patient was unable to respond to antibiotic therapy for septic condition leading to death.
Background: Neonatal diabetes mellitus is a rare disorder characterized by refractory hyperglycaemia which is further divided into two types, transient (TNDM) and permanent neonatal diabetes (PNDM), which is associated with genetic aberrations at the human chromosome 6q24 accompanied with pancreatic structural abnormalities or b-cell dysfunction requiring insulin treatment. This case report analyzes a rare correlation between a case of permanent neonatal diabetes mellitus with Trisomy 21. Methods: An infant presented with intrauterine growth retardation and very low birth weight showing signs of persistent hyperglycaemia where genetic analysis suggested presence of permanent neonatal diabetes mellitus accompanied with Trisomy 21. Chest X-ray examination alongside an echocardiogram revealed significant pericardial tamponade. By the 6th week of life, pericardial effusion spontaneously resolved supported by normal follow-up echocardiograms without any treatment plan. The patient became euglycemic by 3rd week of life and discharged. Conclusion: Neonates with diabetes mellitus usually present with clinical features such as low-birth weight, ketoacidosis, consistent insulin-requiring hyperglycaemia and preterm. This case report shows a correlation between neonatal diabetes and genetic syndromes. Treatment plans can be improved by conducting genetic studies between these two variables and understanding the long-term outcomes.
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