The first presentation of Wolcott-Rallison syndrome in a four-month-old infant with diabetic ketoacidosis (DKA) precipitating by COVID-19: A case report.
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ABSTRACT:
SUBMITTER: Maleki E
PROVIDER: S-EPMC8603413 | biostudies-literature | 2021 Nov
REPOSITORIES: biostudies-literature
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The first presentation of Wolcott-Rallison syndrome in a four-month-old infant with diabetic ketoacidosis (DKA) precipitating by COVID-19: A case report.
Maleki Elham E Baniasad Amir A Sepehran Mina M Davoudian Najmeh N
Clinical case reports 20211119 11
Monogenic diabetes mellitus (eg, Wolcott-Rallison syndrome) is a rare condition. It associates with neonatal or early-infancy insulin-dependent diabetes. We reported DKA in the four-month infant as the first presentation of monogenic diabetes that has accelerated by COVID-19 infection. Therefore, considering the concurrency of COVID-19 and DKA is crucial. ...[more]
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Project description:Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and growth retardation. Fewer than 60 cases have been described in the literature, although WRS is now recognised as the most frequent cause of neonatal/early-onset diabetes in patients with consanguineous parents. Typically, diabetes occurs before six months of age, and skeletal dysplasia is diagnosed within the first year or two of life. Other manifestations vary between patients in their nature and severity and include frequent episodes of acute liver failure, renal dysfunction, exocrine pancreas insufficiency, intellectual deficit, hypothyroidism, neutropenia and recurrent infections. Bone fractures may be frequent. WRS is caused by mutations in the gene encoding eukaryotic translation initiation factor 2? kinase 3 (EIF2AK3), also known as PKR-like endoplasmic reticulum kinase (PERK). PERK is an endoplasmic reticulum (ER) transmembrane protein, which plays a key role in translation control during the unfolded protein response. ER dysfunction is central to the disease processes. The disease variability appears to be independent of the nature of the EIF2AK3 mutations, with the possible exception of an older age at onset; other factors may include other genes, exposure to environmental factors and disease management. WRS should be suspected in any infant who presents with permanent neonatal diabetes associated with skeletal dysplasia and/or episodes of acute liver failure. Molecular genetic testing confirms the diagnosis. Early diagnosis is recommended, in order to ensure rapid intervention for episodes of hepatic failure, which is the most life threatening complication. WRS should be differentiated from other forms of neonatal/early-onset insulin-dependent diabetes based on clinical presentation and genetic testing. Genetic counselling and antenatal diagnosis is recommended for parents of a WRS patient with confirmed EIF2AK3 mutation. Close therapeutic monitoring of diabetes and treatment with an insulin pump are recommended because of the risk of acute episodes of hypoglycaemia and ketoacidosis. Interventions under general anaesthesia increase the risk of acute aggravation, because of the toxicity of anaesthetics, and should be avoided. Prognosis is poor and most patients die at a young age. Intervention strategies targeting ER dysfunction provide hope for future therapy and prevention.
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Project description:IntroductionNeonatal diabetes is a rare disease with incidence estimated at 1 in 300,000 to 1 in 400,000 live births. Walcott-Rallison syndrome has been identified as the most common cause of permanent neonatal diabetes in consanguineous families caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3), characterized by permanent neonatal diabetes associated with liver dysfunction, multiple epiphyseal dysplasia, and developmental delay. We herein report 3 cases of genetically proven Wolcott-Rallison syndrome with variable phenotype presentation.Case seriesAll cases presented with high glucose levels and were treated with insulin. EIF2AK3 homozygous mutation was identified in all 3 on genetic analysis. Initial screening testing for associated comorbidities was normal, including X-ray examination, which did not show any signs of epiphyseal dysplasia in all cases. Case 2 and case 3 were both lost to follow-up and were later found to have expired at the ages of 18 months and 2 years, respectively, due to liver failure associated with intercurrent respiratory illness in hospitals in their native towns. Case one is now 2 years old on regular follow-up in paediatric Endocrine and neurology clinics and doing well so far.ConclusionsMorbidity, as well as mortality, is high among children with WRS neonatal diabetes. It is crucial to screen for gene mutation in patients with diabetes diagnosed before 6 months. Close therapeutic monitoring is recommended in WRS because of the risk of acute episodes of hypoglycaemia and ketoacidosis.
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Project description:Purulent pericarditis is uncommon among paediatric patients and cases caused by group A Streptococcus (GAS) are even rarer. We report a four-month-old female infant who was referred to the Royal Hospital, Muscat, Oman, in 2015 with pericardial effusion and cardiac tamponade. She had initially presented to a secondary hospital with a two-week history of fever, a runny nose and shortness of breath. Blood and pericardial fluid cultures confirmed GAS isolates. The infant was treated with a two-week course of antibiotics and made a complete recovery with no echocardiographical evidence of pericardial effusion at a two-month follow-up. To the best of the authors' knowledge, this case constitutes the youngest infant to present with GAS pericarditis. As invasive GAS infections can present in infancy, early recognition and treatment is required.
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Project description:Wolcott-Rallison Syndrome is the commonest cause of neonatal diabetes in consanguineous families. It is associated with liver dysfunction, epiphyseal dysplasia, and developmental delay. It is caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3).We report 4 children with WRS and Os Odontoideum resulting in significant neurological compromise. This cervical spine abnormality has not previously been described in this syndrome. This additional evidence broadens the clinical spectrum of this syndrome and confirms the role of EIF2AK3 in skeletal development. Furthermore, Os Odontoideum needs to be actively screened for in WRS patients to prevent neurological and respiratory compromise.
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Project description:Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes, spondyloepiphyseal dysplasia, tendency to skeletal fractures secondary to osteopenia, and growth retardation. Mutations in the eukaryotic translation initiation factor 2α kinase (EIF2AK3) gene are responsible for this disorder. Here, we describe a boy with neonatal diabetes, diagnosed at 2 months of age, who developed severe growth retardation and a skeletal fracture during the follow-up period. The patient's skeletal X-ray revealed findings of skeletal dysplasia. A clinical diagnosis of WRS was confirmed by the identification of a novel homozygous nonsense mutation (R491X) in exon 9 of the EIF2AK3 gene. The aim of this report is to raise the awareness for Wolcott-Rallison syndrome in cases presenting with isolated neonatal diabetes. This patient demonstrates that the other findings of this syndrome might be obscured by a diagnosis of isolated neonatal diabetes.
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Project description:The patient was a female infant aged 1 month and 29 days. She was admitted to the hospital due to convulsions for 6 days and increased blood glucose level for 5 days. She had unstable blood glucose levels. The level of glycosylated hemoglobin was too high to measure. Urine glucose was positive (+ - ++++). The levels of fasting C-peptide and insulin were 0.19 ng/mL and 11.68 μIU/mL respectively. High-throughput sequencing of the genetic endocrine disease gene Panel (412 detected genes, including 49 known diabetes-related genes) showed that the EIF2AK3 gene in the infant had two novel compound heterozygous mutations, c.2731_2732delAG and c.2980G>A, both of which were located in the kinase domain. The infant was diagnosed with Wolcott-Rallison syndrome (WRS). As a rare autosomal recessive disease, WRS is characterized by neonatal diabetes, multiple epiphyseal dysphasia and liver disease. Neonatal diabetes is a prerequisite for the diagnosis of WRS. The EIF2AK3 gene is the pathogenic gene of WRS.
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Project description:Context and objectiveMutations in EIF2AK3 cause Wolcott-Rallison syndrome (WRS), a rare recessive disorder characterized by early-onset diabetes, skeletal abnormalities, and liver dysfunction. Although early diagnosis is important for clinical management, genetic testing is generally performed after the full clinical picture develops. We aimed to identify patients with WRS before any other abnormalities apart from diabetes are present and study the overall frequency of WRS among patients with permanent neonatal diabetes.Research design and methodsThe coding regions of EIF2AK3 were sequenced in 34 probands with infancy-onset diabetes with a clinical phenotype suggestive of WRS (n = 28) or homozygosity at the WRS locus (n = 6).ResultsTwenty-five probands (73.5%) were homozygous or compound heterozygous for mutations in EIF2AK3. Twenty of the 26 mutations identified were novel. Whereas a diagnosis of WRS was suspected before genetic testing in 22 probands, three patients with apparently isolated diabetes were diagnosed after identifying a large homozygous region encompassing EIF2AK3. In contrast to nonconsanguineous pedigrees, mutations in EIF2AK3 are the most common known genetic cause of diabetes among patients born to consanguineous parents (24 vs. < 2%). Age at diabetes onset and birth weight might be used to prioritize genetic testing in the latter group.ConclusionsWRS is the most common cause of permanent neonatal diabetes mellitus in consanguineous pedigrees. In addition to testing patients with a definite clinical diagnosis, EIF2AK3 should be tested in patients with isolated neonatal diabetes diagnosed after 3 wk of age from known consanguineous families, isolated populations, or countries in which inbreeding is frequent.
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