Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome.

Dilated cardiomyopathy with ataxia syndrome is a rare mitochondrial disease caused by autosomal recessive mutations in the DNAJC19 gene. The disease has been described in detail in the Canadian Hutterite population, but a few sporadic cases with de novo mutations have been published worldwide. We describe a homozygous pathogenic variant in the DNAJC19 gene, diagnosed in Northern Greece, presenting with genital anomalies, growth failure, cardiomyopathy, and ataxia, but without increased urinary 3-methylglutaconic acid and additional presence of vitamin D disorders, hypercalciuria, and osteopenia. This case not only expands the clinical characteristics of 3-methylglutaconic aciduria type V (MGCA5) but also highlights the power of genetic analysis for detecting a diagnosis when the metabolic screen is negative.

Safety of Ferric Carboxymaltose in Children: Report of a Case Series from Greece and Review of the Literature.

BACKGROUND: Parenteral iron is generally considered safe in adults, and severe adverse events are extremely rare. Ferric carboxymaltose (FCM), a third-generation parenteral iron product, is not licensed for pediatric use. OBJECTIVE: The aim of this study was to present our data on the safety of FCM in children with iron deficiency (ID) and/or iron deficiency anemia (IDA) and to investigate through a systematic literature review articles reporting on the safety of FCM use in children with ID/IDA. PATIENTS AND METHODS: Safety data regarding children treated with FCM for ID/IDA from four pediatric departments in Greece over a 26-month period are presented. Additionally, a literature search was performed in PubMed, Scopus, and Google Scholar on December 4, 2021 for articles reporting on the use of FCM in children with ID/IDA. Review articles, guidelines, case reports/case series, and reports on the use of FCM for conditions other than ID/IDA were excluded. Identified articles were screened for all reported adverse events (AE) that were graded according to the Common Terminology Criteria for Adverse Events, version 5.0. RESULTS: In our cohort, 37 children with ID/IDA received 41 FCM infusions. All infusions were tolerated well. In addition, 11 articles reporting 1231 infusions of FCM in 866 children were identified in the literature. Among them, 52 (6%) children developed AE that were graded as mild or moderate (grades I-III). CONCLUSIONS: Our patient cohort and this literature review provide further evidence for the good safety profile of FCM in children, although well-designed prospective clinical trials with appropriate safety endpoints are still required.

High prevalence of abdominal aortic aneurysm in patients with inguinal hernia.

AIMS: There is increased prevalence of inguinal hernia (ΙΗ) in patients with abdominal aortic aneurysm (AAA). As there is limited data on AAA in patients with ΙΗ our objective was to examine the prevalence of AAA in such patients. METHODS: We prospectively examined 185 consecutive patients for AAA who presented to our department for surgical repair of an ΙΗ. All patients were referred for ultrasound of the abdominal aorta. An AAA was considered to be present when the distal diameter of the abdominal aorta was over 3 cm. Patients with no AAA were followed annually with an abdominal ultrasound for 5 years. RESULTS: Out of the 185 patients (179 males, 6 females) aged from 35-81 (mean 58.6 years), AAA initially appeared in 28 patients with a mean age 61.2 years old. The range of the aortic distal diameter was between 3.4 and 8.1 cm with a mean diameter of 4.8 cm in patients with AAA. The prevalence of the ΑΑΑ was increased in smokers, with hypertension and with bilateral and direct hernia. At the end of the 5 years follow-up, 16 more patients had developed an AAA of mean diameter 3.2 cm (3-4.1 cm), increasing the prevalence of AAA to 27.7%. CONCLUSION: There is an increased prevalence of AAA in patients with ΙΗ, especially in smokers, with hypertension and with bilateral and/or direct hernia. Hence, periodic ultrasonound may play an important role in screening and early diagnosis of AAA in these patients.

Acute-on-chronic food protein-induced enterocolitis syndrome in an exclusively breast-fed infant.

Food protein-induced enterocolitis syndrome (FPIES) is a non-IgE-mediated gastrointestinal food hypersensitivity disorder, typically provoked by cow's milk or soy in formula-fed infants. This case shows that diagnosis of FPIES should be suspected in exclusively breast-fed infants and pediatricians should be suspicious of this in infants with shock and sepsis.