First Turkish Patient with Floating Harbor Syndrome with Additional Findings: Cryptorchidim and Microcephaly

We report the first Turkish patient with Floating Harbor Syndrome (FHS). The 12-year old male patient exhibited classical dysmorphic features of FHS, mental retardation, celiac disease and additional undescribed findings: microcephaly and cryptorchidism.

Is Rhabdomyolysis a Rare Manifestation in Celiac Disease?

No abstract available.

Rhabdomyolysis in Celiac Disease

A 12-year-old female presented with chronic diarrhea, fatigue, failure to thrive, sudden weakness of her upper and lower extremities and inability to walk. On neurological examination, atrophy was found of the lower extremity muscles, coupled with muscle weakness. Hypokalemia and a high creatine kinase (CK) level were detected. Antigliadin IgA, IgG and antiendomysial antibodies were positive. A duodenal biopsy revealed the classical findings of celiac disease. To our knowledge this is the first childhood case of celiac disease presenting with rhabdomyolysis.

Inherited Vitamin K Deficiency: Case Report and Review of Literature

Vitamin K is the cofactor for the hepatic carboxylation of glutamic acid residues in a number of proteins including the procoagulants factors ll, Vll, lX, and X. The role of vitamin K in normal bone function is not fully understood. Inherited deficiency of vitamin K dependent coagulation factors is a rare bleeding disorder reported only in a few patients. Here we present an 18-month old child who presented with osteopeni due to inherited vitamin K deficiency. While the patient had high bone specific alkaline phosphatase and parathyroid hormone levels and low osteocalcin and bone mineral density values, with the regular supplementation of vitamin K all the mentioned parameters returned to normal values.

An Unusual Combination of Relapsing and Cholestatic Hepatitis A in Childhood

Clinical variants of hepatitis A include the prolonged, relapsing and cholestatic forms. Here, the first childhood case of hepatitis A, with a combination of the relapsing and cholestatic forms is presented, a 14-year old boy. In the first phase of the illness, while the AST and ALT levels were declined, th total and direct bilirubin and GGT were increased. The patient was thought to have the cholestatic form of hepatitis A. Du to intense pruritus and high bilirunbin levels, ursodeoxycholic acid (UDCA) therapy was started. On the 17th day, the decreased AST and ALT levels began to increase, reaching levels as high as 484 U/L and 862 U/L, respectively. The UDCA treatment was stopped on the 64th day. On the 164th day, all his laboratory parameters were within normal limits, but the anti-HAV IgM was still positive.