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Propionic acidemia
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Patients with propionic acidemia usually present first with life-threatening illness very early in life (Figure 2.2). Many patients have died in the course of one of these episodes of illness. Patients with metabolic disease, which presents this way in the neonatal period, may appear to have sepsis, ventricular hemorrhage or some other catastrophic process. It is likely that most patients die undiagnosed. A typical episode is heralded by ketonuria. The initial symptom is often vomiting, and some patients have had such impressive vomiting that they have been operated on with a diagnosis of pyloric stenosis [1, 11, 12]. Massive ketosis leads to acidosis and dehydration. Lethargy is progressive to coma. Unless the patient is treated vigorously with intubation and assisted ventilation, as well as very large quantities of fluid and electrolytes, shock intervenes and the outcome is death [13]. Presentation of a gravely-ill infant can be with hypothermia. In an experience with 30 patients [14], 90 percent presented with severe acidosis.
The gastrointestinal tract
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Pyloric stenosis follows the pattern expected for polygenic inheritance, with risks diminishing rapidly outside first-degree relatives, and with relatives of index patients of the more rarely affected sex (female) having a higher risk (Table 23.1).
Single Best Answer Questions
Published in Vivian A. Elwell, Jonathan M. Fishman, Rajat Chowdhury, SBAs for the MRCS Part A, 2018
Vivian A. Elwell, Jonathan M. Fishman, Rajat Chowdhury
A 3-week-old baby exhibits projectile vomiting shortly after feeding, and failure to thrive. On examination, an olive-shaped mass is palpable in the right upper quadrant of the abdomen. A clinical diagnosis of pyloric stenosis is made. What biochemical laboratory features would support the diagnosis?Hypokalaemia, metabolic alkalosis, low urinary pHHyperkalaemia, metabolic acidosis, high urinary pHHypokalaemia, metabolic acidosis, high urinary pHHyperkalaemia, metabolic alkalosis, low urinary pHHypokalaemia, metabolic alkalosis, high urinary pH
Gastric duplication cyst in an infant with Finnish-type congenital nephrotic syndrome: concurrence or coincidence?
Published in Acta Clinica Belgica, 2021
Tülin Güngör, Fehime Kara Eroğlu, Evrim Kargın Çakıcı, Fatma Yazılıtaş, Gökçe Can, Evra Çelikkaya, Deniz Karakaya, Eda Didem Kurt Şükür, Fatih Özaltın, Beytullah Yağız, Mehmet Bülbül
Most infants with CNS exhibit a failure to thrive due to insufficient oral intake and frequent vomiting. Any evaluation of vomiting by CNS infants should take into consideration the potential causes, such as increased nutritional requirement compared to healthy infants, hypo-peristalsis, edema of the gastrointestinal tract and uremia associated with chronic kidney failure [9]. Structural digestive disorders, such as hypertrophic pyloric stenosis, gastroesophagal reflux and intestinal malrotation, have to be considered. The etiology of hypertrophic pyloric stenosis is unknown but it is likely to be multifactorial, involving genetic predisposition and environmental factors. Pyloric stenosis appears to be associated with CNS. In one series, 12% of 41 infants with CNS presented pyloric stenosis. The reason for this association is not known [10]. A novel mutation in the nephrin gene was detected in our patient. Nephrin is expressed in the testis, central nervous system, pancreas, placenta, heart and lymphoid tissue; however, its expression in the digestive tract has not been clarified [11]. Perhaps the effects of the neprin gene on the gastrointestinal tract will be demonstrated as similar case samples increase in following years.
Safety considerations when managing gastro-esophageal reflux disease in infants
Published in Expert Opinion on Drug Safety, 2021
Melina Simon, Elvira Ingrid Levy, Yvan Vandenplas
In a large retrospective cohort study including more than 14,000 infants, an increased risk of developing pyloric stenosis was noticed in infants who received erythromycin before the age of 2 weeks (relative risk = 10.51 95% CI 4.48, 24.66) [161]. Another study comparing the adverse effects of metoclopramide and erythromycin showed that 0.9% (14/1587) of the infants receiving erythromycin developed pyloric stenosis and 0.4% (77/19.200) of these receiving metoclopramide [162]. The incidence of pyloric stenosis in the overall population is 0.2–0.4% [154]. There are also a few case reports of severe arrhythmias associated with the use of erythromycin in neonates but only when administered intravenously [163]. In addition to the concern of antimicrobial resistance, unnecessary use of antibiotics should be avoided because of potential later metabolic effects, thought to be due to perturbation of the host microbiome [164]. Overall, neither low-dose regimes nor prophylactic trials have been shown to be useful [165]. Theoretical risks of prolonged antibiotic use, such as emergence of antibiotic resistance and abnormal intestinal microbiota, have not been fully evaluated [164].
Neonatal epidermolysis bullosa: lessons to learn about genetic counseling
Published in Journal of Dermatological Treatment, 2021
Shuk Ching Chong, Kam Lun Hon, Liz Y. P. Yuen, Paul Cheung Lung Choi, W. G. Gigi Ng, Tor W. Chiu
A Pakistani baby was born at 35 weeks and 3 days gestation by vaginal delivery with a birth weight of 2.33 Kg. He was noted to have multiple blisters at birth. Abdominal distention was noted and he was transferred to a tertiary center for management. Pyloric stenosis was diagnosed and immediate operation with gastroduodenostomy was performed on day 2 of life. The operative diagnosis confirmed pyloric stenosis with a completely obliterated lumen. Skin biopsy showed basket-weave cornified layers and almost completely detached cell poor subepidermal blister and deficient collagen VII stain. A proband whole exome sequencing was performed and did not reveal any point mutation, but a homozygous deletion of exon 19–25 of ITGB4 gene was noted. Chromosomal Microarray Analysis (CMA) revealed a copy number loss within chromosome band 17q25.1 spanning ∼4 kb in size, involving exons 19–25 of the ITGB4 gene. The log ratio of this copy number loss suggests a homozygous deletion, which was confirmed by Polymerase chain reaction (PCR) and parental PCR. Homozygous mutations or deletions of the ITGB4 gene have been associated with autosomal JEB with pyloric atresia (OMIM # 226730). In addition, even though there was no family history of parental consanguinity, CMA detected contiguous regions of copy-neutral absence of heterozygosity (AOH) greater than 10 Mb in several chromosomes with a total extent of 74 Mb. Notably, an AOH region of 4 Mb at chromosome region 17q25.1q25.3 that contains the ITGB4 gene is also reported, although it is below the cutoff size of 10 Mb for standard reported AOH regions. This finding is consistent with the homozygous loss in the aforementioned ITGB4 gene. We postulated that the parents are remotely consanguineous as they grew up in the same region geographically. Detailed genetic counseling was given and antenatal diagnostic service will be offered as the recurrence risk is 25% in future pregnancy. The infant was transferred back to the mother hospital but subsequently died of sepsis at the age of 3 months.