Clinical, sonographical, and pathological findings of pediatric thyroid nodules.

Thyroid nodules are less frequent in children than in adults. A higher rate of malignancy is highlighted in this group. We aimed to analyze the clinical, laboratory, and ultrasound (US) findings of children and adolescents with benign and malignant thyroid nodules. This was a retrospective review of children and adolescents evaluated at a tertiary pediatric institution between 2007 and 2019. Patients with autonomously functioning nodules, autoimmune thyroid diseases, and a history of oncohematological disorders were excluded. A total of 102 patients with 131 nodules were identified. The study population included 57 females (55.9%); the average age was 10.6 ±4 years. Thirty-five nodules (26.7%) ranging 4.5-36 mm had a fine-needle aspiration (FNA) done: 45.7% (n = 16) were benign, 11.4% (n = 4) were classified as atypia, and 8.5% (n = 3) were consistent with papillary carcinoma. Fourteen patients (13.7%) underwent surgery. Five (4.9%) were finally diagnosed with papillary thyroid cancer. Of the 6 patients with benign FNAs, all except one, which was initially reported as atypia by an earlier FNA but was later diagnosed with papillary carcinoma, had a colloid nodular goiter. Of the 3 patients with atypia FNAs, one was found to be papillary carcinoma. One hundred twenty-five benign nodules (21 based on cytology and/or histology, 104 on clinical and imaging follow-up) were diagnosed. Nodule size, microcalcifications, solid parenchyma, and pathologic lymph node alterations were associated with malignancy, but nodule growth was not.Conclusion: Diagnostic approach and management of children with thyroid nodules should be based on a stepwise evaluation including clinical, laboratory, and US findings. Of the 102 patients identified, 4.9% had thyroid carcinoma below the range described in previous literature. What is Known: • Thyroid nodules are less frequent in children than in adults but more frequently malignant. Research on factors associated with malignancy have mostly been conducted in adults; further studies in pediatric thyroid nodules are warranted. What is New: • Microcalcifications, pathologic lymph node alterations, solid parenchyma, and larger nodule size are associated with malignant nodules, but nodule growth is not always suggestive of thyroid malignancy. The incidence of thyroid malignancy in this population was below the reported worldwide incidence in children with thyroid nodules.

Wernicke`s encephalopathy manifesting with diplopia after ileojejunostomy: report of a pediatric case with Hirschsprung disease.

BACKGROUND: Wernicke`s encephalopathy (WE) is a coenzyme-induced disease with acute neuropsychiatric symptoms leading to high mortality and morbidity due to thiamine deficiency. WE is mostly caused by alcoholism in adult populations; however, it is often associated with gastrointestinal surgical procedures, recurrent vomiting, chronic diarrhea, cancer and chemotherapy treatment, systemic diseases, drugs, magnesium deficiency, and malnutrition in children. Although these predisposing factors are considered to be uncommon in children, they are actually highly frequent and can be fatal if not treated promptly. CASE: In this report, we present a patient who developed diplopia during total parenteral nutrition following surgical resection and was diagnosed with WE. The findings of the patient's cranial magnetic resonance imaging (MRI) findings were consistent with those of WE and the ocular findings of the patient resolved completely after thiamine treatment. CONCLUSION: Although WE is rare in children it can be prevented by early diagnosis and treatment and oculomotor findings such as diplopia can be a warning sign.

Constitutional Mismatch Repair Gene Defect Syndrome Presenting With Adenomatous Polyposis and Cafe au Lait Spots: A Case Report.

INTRODUCTION: Adenomatous polyps in the gastrointestinal system rarely occur in childhood and are accompanied by syndromes such as Familial adenomatous polyposis, attenuated familial adenomatous polyposis, and MUTYH-associated polyposis, Gardner and Turcot syndrome, and also mismatch repair (MMR) gene defects. In this article, we want to present a rare patient who had adenomatous polyposis and in situ carcinoma and was detected biallelic MMR gene defect. CASE: A 16-year-old female patient admitted with painless rectal bleeding, chronic abdominal pain, and anorexia for 1 year. Her physical examination was notable for multiple cafe au lait spots. The colonoscopic and histopathologic examination revealed multiple adenomatous polyps that one of them contains low-high grade dysplasia and in situ carsinoma. Genetic analysis revealed a homozygous mutation in the PMS2 gene [c.1164delT (p.H388Qfs*10) (p.His388GInfsTer10)] and she was diagnosed with constitutional MMR gene defect syndrome. Polypectomy was performed 4 times in 2 years period. Then, the patient's last colonoscopic examination revealed a large broad polyp in the rectum and multiple polyps in the other colon segments, and she underwent colectomy because of high risk of colorectal cancer. CONCLUSIONS: Adenomatous polyps are very important in childhood because of rarity. In particular, the presence of cafe au lait spots and a history of malignancy detected in relatives at an early age must be considered for CMMRD.