Intracranial germinoma combined with parathyroid adenoma in a male pediatric patient: A case report.

Cases of young patients combined with intracranial germinoma and parathyroid adenoma are extremely rare. A 6.25-year-old boy was diagnosed with growth hormone deficiency at his first visit and was then treated with growth hormone substitution. Later, he was clinically diagnosed with central diabetes insipidus (CDI) and primary hyperparathyroidism, whereas no abnormal imaging evidence was identified, except for a thickened pituitary stalk. Due to persistent follow-up, parathyroid adenoma and intracranial germinoma were verified in succession. The patient had derived benefits from parathyroidectomy and chemotherapy plus radiotherapy. We concluded that children and adolescents who present with CDI and pituitary stalk thickening should undergo repeated screenings for underlying intracranial germinoma. Multiple lesions involving the parathyroid gland and pituitary should alert physicians to the possibility of multiple endocrine neoplasia or other inherited diseases; therefore, genetic screening is recommended.

Graves' Disease in Children Presenting With Fragility Fracture: A Case Report.

Background: Adults with hyperthyroidism have been found to have decreased bone mineral density (BMD) and higher fracture risk. The most typical cause of hyperthyroidism is Graves' disease. However, there are limited studies on how hyperthyroidism affects bone metabolism and fractures in children. We describe a unique instance of a patient who initially displayed a fragility fracture and was ultimately identified with Graves' disease after biochemical evaluations. Case Summary: A 2-year-8-month-old female presented with fragility fractures three times in only 7 months. A series of examinations were performed to evaluate any possible malformations or abnormalities of bone metabolism. Graves' disease was found, and drug therapies were employed (methimazole, propranolol, calcium carbonate, vitamin D). Since children with Graves' disease and fragility fractures have been uncommonly described in the past, a stringent and thorough long-term follow-up was initiated. Conclusions: Children with undiagnosed Graves' disease had a higher risk of fractures and osteoporosis. This case suggests that BMD measurement may be necessary for the initial evaluation of Graves' disease in children.

Case Report: Fanconi-Bickel Syndrome in a Chinese Girl With Diabetes and Severe Hypokalemia.

Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive carbohydrate metabolism disorder. The main symptoms of FBS are hepatomegaly, nephropathy, postprandial hyperglycemia, fasting hypoglycemia, and growth retardation. Hypokalemia is a rare clinical feature in patients with FBS. In this study, we present a neonate suffering from FBS. She presented with hypokalemia, dysglycaemia, glycosuria, hepatomegaly, abnormality of liver function, and brain MRI. Trio whole-exome sequencing (WES) and Sanger sequencing were performed to identify the causal gene variants. A compound heterozygous mutation (NM_000340.2; p. Trp420*) of SLC2A2 was identified. Here, we report a patient with FBS in a consanguineous family with diabetes, severe hypokalemia, and other typical FBS symptoms. Patients with common clinical features may be difficult to diagnose just by phenotypes in the early stage of life, but WES could be an important tool. We also discuss the use of insulin in patients with FBS and highlight the importance of a continuous glucose monitoring system (CGMS), not only in diagnosis but also to avoid hypoglycemic events.

Segmental maternal uniparental disomy of chromosome 7q in a patient with congenital chloride diarrhea.

BACKGROUND: The main symptoms of congenital chloride diarrhea (CCD) main symptoms are watery diarrhea, hypochloremia, and hypokalemic metabolic alkalosis. Silver-Russell syndrome (SRS) is a heterogeneous imprinting disorder characterized by severe intrauterine retardation, poor postnatal growth, and facial dysmorphism. METHODS: Parent-offspring trio whole-exome sequencing was used to identify the causal variants. Sequencing reads were mapped to the reference of human genome version hg19. Sanger sequencing was performed as a confirmatory experiment. RESULTS: The proband was a patient with SRS caused by maternal uniparental disomy 7. The CCD of the proband was caused by homozygous variant c.1515-1 (IVS13) G>A; both mutated alleles were inherited from her mother. CONCLUSION: We report the first clinical case of CCD and SRS occurring together. Patients with milder phenotypes may be difficult to diagnose in early stage, but close monitoring of potential complications is important for identification.

The thyroid hormone levels and glucose and lipid metabolism in children with type 1 diabetes: a correlation analysis.

BACKGROUND: Type 1 diabetes mellitus (T1DM) is common in clinical setting, the relationship between thyroid hormone levels and glucose and lipid metabolism in patients with T1DM remains unclear. We attempted to analyze the correlation of thyroid hormone levels and blood glucose and lipid metabolism in children with normal thyroid function. METHODS: Children with T1DM were selected, and 85 healthy children who underwent physical examinations in our hospital as control group. The characteristics and laboratory testing results were compared, the correlation of thyroid hormone levels with blood glucose and blood lipids was analyzed by Pearson correlation analysis. RESULTS: A total of 167 participants were included. the low-density lipoprotein-cholesterol (LDL-C), triglyceride (TG), fasting blood glucose (FBG), and glycated hemoglobin (HbAlc) in T1DM patients were higher than those in healthy controls, while the high-density lipoprotein-cholesterol (HDL-C), thyroid stimulating hormone (TSH) and free triiodothyronine (FT3) in T1DM patients were lower than that of healthy children (all P<0.05). TSH was positively correlated with LDL-C (r=0.169, P=0.032), TC (r=0.182, P=0.017) and TG (r=0.197, P=0.008), negatively correlated with FBG (r=-0.196, P=0.023) and HbAlc (r=-0.328, P=0.002). FT3 was negatively correlated with TG (r=-0.182, P=0.011), FBG (r=-0.184, P=0.009) and HbAlc (r=-0.223, P=0.005). TG in the high TSH group and the middle TSH group is higher than that of low TSH group. However, FBG and HbAlc were lower than those in the low TSH group (all P<0.05). Compared with the low FT3 group, the TG, FBG and HbAlc decreased in the high and middle FT3 group (all P<0.05). CONCLUSIONS: The serum TSH are closely associated with FT3 and glycolipid metabolism in children with T1DM, which may be the useful indicators to assess the severity of T1DM in clinical settings to provide insights into the management of T1DM.

Plasma exchange successfully treated macrophage activation syndrome in rheumatoid factor-positive polyarticular juvenile idiopathic arthritis with co-existing pneumonia.

Macrophage activation syndrome (MAS) is one of the serious complications associated with rheumatic diseases, especially systemic juvenile idiopathic arthritis (sJIA). Here we describe a 9-year-old girl with rheumatoid factor (RF)-positive polyarticular JIA, not sJIA, combined with pneumonia who was successfully treated by plasma exchange. She was diagnosed with RF-positive polyarticular JIA based on positive RF and multiple joint swelling and tenderness 3 years ago. She was admitted in our hospital with myalgia for 2 days and a high fever for half a day. Physical examination revealed relapsing joints symptoms and rough breathing sounds of lungs. The laboratory examination showed increased liver enzymes, elevated serum ferritin and procalcitonin (PCT), decreased percentage of nature killer (NK) cells and fibrinogen, and activated macrophage phagocytosing hematopoietic elements in bone marrow. The elevated PCT and chest computed tomography scan confirmed she also had pneumonia. Intravenous methylprednisolone and oral cyclosporine A followed by intravenous immunoglobulin were added on the basis of antibiotics therapy, but clinical symptoms and laboratory findings did not improve. Finally, we changed to plasma exchange once every other day for a total of three times. Within 1 week, the girl recovered from the MAS completely.