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    A case of homozygous familial hypercholesterolemia with focal segmental glomerulosclerosis
    (SPRINGER, 2007) Elmaci, Ahmet Midhat; Peru, Harun; Akin, Fatih; Akcoren, Zuhal; Caglar, Melda; Ozel, Ahmet
    Familial hypercholesterolemia (FH) is a common autosomal dominant inherited disorder characterized by increased levels of circulating plasma low-density lipoprotein cholesterol (LDL-C), tendon xanthomas, and premature atherosclerotic cardiovascular disease. Homozygous FH occurs in only one in a million people. Focal segmental glomerulosclerosis (FSGS) is clinically characterized by proteinuria, which is marked in the majority of cases and accompanied by nephrotic syndrome, high incidence of hypertension, and progression to renal failure. To our knowledge, we herein report for the first time a case of homozygous FH associated with FSGS. A seven-and-a-half-year-old boy was referred to our hospital due to cutaneous xanthomata and growth retardation. He had multiple nodular yellowish cutaneous xanthomatous lesions each 1 cm in size over his knees and sacral region. Laboratory data included cholesterol level of 1,050 mg/dl, low density lipoprotein cholesterol (LDL-C) 951 mg/dl, high-density lipoprotein cholesterol (HDL-C) 29 mg/dl, triglycerides 168 mg/dl, total protein 6.3 g/dl, and albumin 3.2 g/dl. Urinary protein excretion was 78 mg/m(2) per hour. A percutaneous renal biopsy was performed, and histological findings showed FSGS. Treatment with cholestyramine and atorvastatin was unsuccessful in terms of lowering lipids, and he was placed on weekly sessions of plasmapheresis. Total cholesterol was reduced from 1,050 mg/dl to 223 mg/dl, LDL-C from 951 mg/dl to 171 mg/dl, and urinary protein excretion from 78 mg/m(2) per hour to 42 mg/m(2) stop per hour after eight sessions of plasmapheresis. It is our belief that plasmapheresis is a treatment of choice in patients with FSGS associated with FH.
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    Merkel Cell Carcinoma in a Child
    (LIPPINCOTT WILLIAMS & WILKINS, 2009) Koksal, Yavuz; Toy, Hatice; Talim, Beril; Unal, Ekrem; Akcoren, Zuhal; Cengiz, Mustafa
    Merkel cell carcinoma, a rare tumor of the skin with aggressive behavior, is usually fatal when advanced disease is present. Merkel cell carcinoma occurs mostly in white race between 60 and 80 years of age, however, it can occur in any races and ages. It is extremely rare in children. We present here a Merkel cell carcinoma in a boy. Its features and treatment modalities were. discussed in the literature light.
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    Merkel cell carcinoma in a child -- 2
    (WILEY-LISS, 2007) Unal, Ekrem; Koksal, Yavuz; Toy, Hatice; Talim, Beril; Unal, Ekrem; Akcoren, Zuhal; Cengiz, Mustafa
    [Abstract not Available]
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    Mesenchymal hamartoma of the liver mimicking hepatoblastoma
    (LIPPINCOTT WILLIAMS & WILKINS, 2008) Unal, Ekrem; Koksal, Yavuz; Akcoren, Zuhal; Tavli, Lema; Gunel, Engin; Kerimoglu, Ulku
    Mesenchymal hamartoma of the liver is a cystic benign liver mass occurring in children. Diagnostic confusion with hepatoblastoma may arise when a-feto-protein (AFP) level is elevated. We report an extremely rare case of mesenchymal hamartoma in an 11-month-old boy. Serum AFP was elevated and fine-needle aspiration biopsy suggested the lesion as hepatoblastoma, so he received preoperative chemotherapy. At the end of the preoperative chemotherapy, the tumor size and AFP level decreased. A right hepatectomy was performed. The pathologic examination of the specimen revealed mesenchymal hamartoma. Mesenchymal hamartoma of the liver with increased serum AFP levels may mimic hepatoblastoma if a cytological examination samples only the hepatocellular component of mesenchymal hamartoma. According to our knowledge, this is the first case of the mesenchymal hamartoma of the liver, which showed reduction in serum levels of AFP and involution of the tumor size by preoperative chemotherapy.
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    An unusual association between familial Mediterranean fever and IgM nephropathy
    (KARGER, 2008) Peru, Harun; Elmaci, Ahmet Midhat; Akin, Fatih; Akcoren, Zuhal; Orhan, Diclehan
    Objective: To report a case with the diagnosis of IgM nephropathy and familial Mediterranean fever (FMF). Clinical Presentation and Intervention: A 9-year-old boy was admitted to our hospital with recurrent abdominal pain since the age of 4 years. Laboratory investigations revealed a sedimentation rate of 88 mm/h, C-reactive protein: 83.2 mg/l (0-10 mg/l), white blood cell count: 12,700/mm(3), fibrinogen: 622 mg/dl (200-400 mg/dl) and serum amyloid A: 186 mg/l (0-5.8 mg/l). Urinalysis revealed +2 proteinuria. A 24-hour urinary protein excretion was 12 mg/m(2)/h. M694V homozygous mutation was identified in exon 10. Percutaneous renal biopsy showed mesangial cell proliferation and increased mesangial matrix in the glomeruli, without amyloid accumulation. Immunofluorescence study showed IgM (+1) and C1q (+1) deposits. Treatment with 1 mg/day colchicine was started. Six weeks later, proteinuria had disappeared and the patient was asymptomatic. Conclusion: This case illustrates the unusual association of FMF with non-amyloid glomerulopathy. Glomerular diseases such as IgM nephropathy may be seen as a manifestation of FMF. Copyright (C) 2008 S. Karger AG, Basel.