Turkish archives of pediatrics最新文献

Objective: Myxedema coma (MC) is a severe and rare clinical form of hypothyroidism that causes multiple organ failure and altered consciousness. The aim of reporting this case series is to evaluate the clinical presentation, diagnostic findings, and outcomes in pediatric patients diagnosed with MC. Materials and Methods: This article presents a case series of 8 patients diagnosed with MC between January 1, 2020, and October 31, 2024, at pediatric endocrinology department of the authors' hospital. The clinical and laboratory data of the cases were obtained from the hospital records system, and the cases were scored using the diagnostic scoring system for MC. Results: The mean age was 10.36 ± 3.56 years, with a male-to-female ratio of 1:3. Four of the patients were diagnosed with hypothyroidism upon admission with MC, while the remaining 4 had a history of hypothyroidism but presented with MC due to non-compliance with treatment. The majority of patients presented with edema, rapid weight gain, lethargy, and other symptoms of hypothyroidism. Six patients had Hashimoto's thyroiditis, 1 had thyroid hypoplasia, and 1 had thyroid aplasia. Laboratory tests revealed severely elevated thyroid-stimulating hormone (TSH) and low free thyroxine (fT4) and free triiodothyronine (fT3) levels. Six patients had elevated CK and myoglobin levels, indicating secondary rhabdomyolysis. Following levothyroxine (LT4) therapy, significant improvements were observed in muscle strength, thyroid function, and other clinical parameters. None of the patients required intensive care, and all recovered with 100% survival rate. Conclusion: Early diagnosis and appropriate thyroid hormone replacement therapy are crucial for reversing the metabolic abnormalities and preventing life-threatening complications. This study highlights the importance of timely intervention and emphasizes the need for strict adherence to thyroid hormone therapy in children with hypothyroidism.

Objective: Despite overlapping features, these 2 groups of disorders may exhibit distinct clinical and biochemical profiles. This study aimed to evaluate and compare the clinical presentation, laboratory findings, neuroimaging characteristics, genotypic spectrum, and clinical outcomes of patients with ketogenesis and ketolysis defects. Materials and Methods: Thirty patients diagnosed between 1986 and 2023 were retrospectively reviewed. Diagnosis was confirmed by clinical findings, biochemical, and genetic/enzymatic testing. Data included demographic details, clinical manifestations, neurodevelopmental status, laboratory results, imaging findings, genetic information, and treatments. Results: Of the 30 patients, 13 (43.3%) were diagnosed with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD), 14 (46.7%) with 2-methylacetoacetyl-coenzyme A thiolase deficiency (MATD), and 3 (10%) with succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD). Patients with ketolysis defects presented at a later median age (210 vs. 30 days, P < .009) and exhibited more profound metabolic acidosis (pH 7.06 ± 0.18 vs. 7.26 ± 0.12, P = .028). Common presenting symptoms included vomiting in 25 (83.3%), hypoglycemia in 9 (33.3%), and seizures in 5 (16.6%). Leigh-like neuroimaging findings were observed in 3 HMGCLD patients. Biallelic pathogenic variants in HMGCL, ACAT1, or OXCT1 were identified in 14 patients. Dialysis was required in 1 MATD and 1 SCOTD case. Excluding those lost to follow-up, the mortality rates among the remaining 18 patients were 1/8, 12.5% in 2/9 HMGCLD, and 22.2% in MATD. One of the patients with SCOTD was alive at the time of the last follow-up. Conclusion: Patients with ketolysis defects are more likely to present later and with severe metabolic acidosis, occasionally requiring renal replacement therapy. Delayed diagnosis may hinder timely intervention, potentially contributing to increased mortality.

Objective: Childhood obesity is a growing public health concern associated with a wide range of metabolic and hematologic disturbances. Among these, iron deficiency anemia (IDA) may be underrecognized. This study aimed to compare hematologic and biochemical profiles between children with obesity and healthy peers. Materials and Methods: In this retrospective study, 84 children with obesity were compared with 101 age- and sex-matched healthy controls. Anthropometric and laboratory parameters-including hemoglobin(HGB), mean corpuscular volume (MCV), red cell distribution width (RDW), serum iron, total iron-binding capacity (TIBC), ferritin, and vitamin B12-were analyzed between groups. Results: Children with obesity demonstrated a higher frequency of anemia, with low HGB observed in 22.6% compared to 10.9% in controls (P = .031). Microcytosis, indicated by decreased MCV, was more prevalent in the obesity group (53.6% vs. 32.7%, P = .004), as was elevated RDW (40.5% vs. 18.8%, P = .001). Median serum iron levels were significantly lower (51 vs. 66 µg/dL, P < .001), and TIBC was higher (330 vs. 299 µg/dL, P = .002) in children with obesity. Ferritin levels showed no significant difference between groups (23.7 vs. 18.3 ng/mL, P = 0.101). ALT levels were also elevated in the obesity group (30 vs. 18 U/L, P = .001). Conclusion: The prevalence of IDA and related hematologic abnormalities is higher among children with obesity compared to healthy peers. These findings highlight the value of routine hematologic screening in pediatric obesity management to enable early detection and appropriate clinical intervention.