Celiac Disease Presenting with Immune Thrombocytopenic Purpura.

Celiac disease (CD) is an immunological disorder. Clinical manifestations occur as a result of intestinal mucosa damage and malabsorption. CD is also associated with extraintestinal manifestations and autoimmune disorders. The coexistence of CD and autoimmune diseases has been described before. In this article, a patient with CD presenting with thrombocytopenia is discussed.

A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report.

Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disease caused by mutations in the transient receptor potential melastatin 6 (TRPM6) gene. Affected individuals present in early infancy with seizures caused by the severe hypocalcemia and hypomagnesemia. By presenting this case report, we also aimed to highlight the need for molecular genetic analysis in inbred or familial cases with hypomagnesemia. A Turkish inbred girl, now aged six years, had presented to another hospital at age two months with seizures diagnosed to be due to hypomagnesemia. She was on magnesium replacement therapy when she was admitted to our clinic with complaints of chronic diarrhea at age 3.6 years. During her follow-up in our clinic, she showed an age-appropriate physical and neurological development. In molecular genetic analysis, a novel homozygous frame-shift mutation (c.3447delT>p.F1149fs) was identified in the TRPM6 gene. This mutation leads to a truncation of the TRPM6 protein, thereby complete loss of function. We present the clinical follow-up findings of a pediatric HSH case due to a novel mutation in the TRPM6 gene and highlight the need for molecular genetic analysis in inbred or familial cases with hypomagnesemia.

Serum Zinc, Copper, Magnesium and Selenium Levels in Children with Helicobacter Pylori Infection.

OBJECTIVE: Helicobacter pylori infection can cause disease from mild to severe that may be accompanied by micronutrient deficiencies. We aimed to investigate serum zinc, copper, magnesium and selenium levels in Helicobacter pylori positive children. MATERIALS AND METHODS: Thirty-four children, with chronic abdominal pain and diag-nosed to be Helicobacter pylori-positive and 20 healthy children with the same demo-graphic characteristics were included in the study. Serum zinc, copper and magnesium levels were measured in the flame unit of atomic absorption spectrophotometer, selenium levels were measured in the graphite unit of the same atomic absorption spectrophotometer. RESULTS: Serum zinc levels were significantly higher and serum magnesium levels were significantly lower (p<0.05) in Helicobacter pylori positive children than those of the control group. Although copper levels were lower in patient group than in control group, this difference was not statistically significant (p>0.05). There was no significant difference between serum selenium levels of two groups. CONCLUSION: We concluded that in Helicobacter pylori-positive children, many trace elements and mineral metabolism may change.

Celiac disease, phylloid hypomelanosis and autoimmune thyroiditis: a case report.

Pigmentary mosaicism is a term used to encompass all of these different types of pigmentary patterns. Among these mosaic patterns, there have been only a few reports of the phylloid presentation in the literature. On the other hand, autoimmune disorders can be associated with neurocutaneous markers and syndromes. A fifteen-year-old girl was presented for chronic diarrhea and abdominal pain. Her physical examination had determined multiple hypopigmented patches. Finally, she was diagnosed phylloid hypomelanosis together with partial trisomy 13 accompanying celiac disease and autoimmune thyroiditis.

Is there need for a new hepatitis B vaccine schedule for children with celiac disease?

BACKGROUND: Celiac disease (CD) is an autoimmune disease characterized by immunemediated inflammatory damage of the small intestinal mucosa, precipitated by the ingestion of gluten-containing foods. Since human leucocyte antigen DQ2 (HLA-DQ2) is a marker of nonresponsiveness to hepatits B virus (HBV) vaccine, CD may also be associated with this nonresponsiveness. OBJECTIVES: The aim of this study was to compare the responses to HBV vaccine between children with CD and healthy children. We also investigated the relationship between the patients' responses to hepatitis B vaccine, the clinical presentation of CD, and dietary compliance in the patients. PATIENTS AND METHODS: We recruited 52 children with CD and 20 age- and sex-matched healthy children who received HBV vaccination according to the standard immunization schedule. The production of specific antihepatitis B surface antigen (HBsAg) antibodies was evaluated in all patients and control participants. Subjects with less than 10 IU/L anti-HBs were consided nonresponders to the vaccination. RESULTS: 31 of the 52 patients (59.6%) were female and 21 (40.4%) were male. The mean age of the CD patients was 10.7 ± 4 years (range, 4-18 years). Anti-HBs titers were positive in 32 (61.5%) patients and negative in 20 (38.5%) patients, while they were positive in 18 (90%) of the children in the control group (P < 0.05). We found statistically significant differences between negative anti-HBs titers, clinical presentation of CD, and dietary compliance in patients with CD (P < 0.05). CONCLUSIONS: Nonresponsiveness to hepatitis B vaccination was more frequently found in children with CD than in the control group. Therefore, the response to HBV vaccination should be investigated in children with CD, and a different immunization schedule may need to be developed. Further, compliance to the prescribed gluten-free diet (GFD) may improve the immune response to HBV vaccination in children with CD.

Sertoli cell tumor causing prepubertal gynecomastia in a boy with peutz-jeghers syndrome: the outcome of 1-year treatment with the aromatase inhibitor testolactone.

Peutz-Jeghers syndrome (PJS) is a rare disorder characterized by benign intestinal hamartomatous polyps and mucocutaneous pigmentation, and with an increased risk for intestinal and extra-intestinal neoplasms. Sertoli cell tumors in boys with PJS have been increasingly recognized as a cause of prepubertal gynecomastia. However, an association between nephrocalcinosis and PJS has not been reported before. We report on a 7.25-year-old boy with PJS, bilateral gynecomastia, Sertoli cell tumor and nephrocalcinosis, and present the outcome of 1-year treatment with the aromatase inhibitor testolactone. The patient presented with bilateral breast and testis enlargement, and mucocutaneous pigmentation. Testicular ultrasound revealed parenchymal multiple microcalcifications. Histopathological examination was consistent with Sertoli cell tumors. Nephrocalcinosis due to idiopathic renal hypercalciuria was also detected. The aromatase inhibitor testolactone was begun in an attempt to prevent acceleration in skeletal maturation. One-year treatment with testolactone reduced the breast base diameter from 7 to 3 cm, and bone age advanced 1.2 years during this period. Our case demonstrates that waiting for the effect of aromatase inhibitors on gynecomastia before making a decision for mastectomy may be a reasonable option. We also consider that the association between PJS and nephrocalcinosis may be a coincidence.