Şafak Güçer

Focal Segmental Glomerulosclerosis Associated with Mitochondrial Cytopathy: Report of Two Cases with Special Emphasis on Podocytes

We report two children with focal segmental glomerulosclerosis (FSGS) associated with mitochondrial cytopathy (MC). Case 1 was diagnosed as MC with the findings of ptosis, ophthalmoplegia, failure to thrive, high serum lactate and pyruvate levels, ragged red fibers in muscle biopsy and the common 4.9 kb deletion in mtDNA when she was four years old. She subsequently developed FSGS four years later. Case 2 was a four month-old girl presenting with feeding difficulty from birth, with vomiting, seizures and nystagmoid eye movements, nephrotic proteinuria and hematuria. Renal biopsy revealed FSGS. Ultrastructural study demonstrated markedly pleomorphic mitochondria in podocytes with a severe effacement of foot processes. The analyses of muscle biopsy and skin fibroblasts for respiratory chain enzymes were found to be normal, while mitochondrial DNA analysis revealed the population of a single deleted mtDNA in the heteroplasmic state. The present cases illustrate FSGS as a rare renal complication of mitochondrial disease and provide further evidence of podocytes possessing abnormal mitochondria which may cause glomerular epithelial cell damage leading to glomerulosclerosis.

Different features of lung involvement in Niemann-Pick disease and Gaucher disease

BACKGROUND Niemann-Pick disease (NPD) and Gaucher disease (GD) are well-known lysosomal storage diseases. Respiratory system involvement is an important cause of morbidity and mortality in patients with NPD and GD. OBJECTIVES We tried to assess the clinical, radiological, and histological features of GD and NPD patients with lung involvement. METHODS We reviewed medical history, physical examination, radiological, and histological data of 10 NPD and 7 GD patients. RESULTS The most common respiratory symptoms were recurrent lung infection and dyspnea. Although lung examination results in 6 NPD patients were normal, they had lung involvement; 3 patients were diagnosed as NPD directly via lung biopsy during investigation of recurrent lung infection or interstitial lung disease. All GD patients but 1 had respiratory system symptoms at the time of diagnosis. Hepatopulmonary syndrome was present in 4 GD patients. A ground-glass pattern and atelectasis were 2 important high-resolution computed tomography features in the NPD and GD patients. Flexible bronchoscopy and bronchoalveolar lavage were used for emergency extraction of bronchial casts in 1 NPD patient. CONCLUSIONS Lung involvement in NPD and GD patients should be included in the differential diagnosis of interstitial lung disease. Besides interstitial appearance on HRCT, atelectasis related to bronchial cast and bronchiectasis are other radiological findings in these group of patients. Analysis of bronchoalveolar fluid and lung biopsy provide very important clues for diagnosis. Hepatopulmonary syndrome is an important vascular complication observed in GD patients.

Common characteristics of jejunal heterotopic gastric tissue in children: a case report with review of the literature.

An 11-year-old boy underwent laparotomy for intermittent intussusceptions because of a polypoid lesion located in the proximal jejunum. The polypoid lesion was diagnosed as heterotopic gastric mucosa (HGM). Jejunal HGM is a very rare entity, and review of the literature revealed common characteristics in children with this pathologic condition. The usual presenting age is about 14 years, and the common clinical picture is intermittent intussusceptions. Jejunal HGM is usually polypoid and predominantly located within a few centimeters distal to ligament of Treitz. The aforementioned characteristics should suggest jejunal HGM be included in the differential diagnosis of jejunal polypoid lesions in children.

Successful unilateral partial lung lavage in a child with pulmonary alveolar proteinosis

Pulmonary alveolar proteinosis (PAP) is a rare disorder in which lipoproteinaceous material accumulates within the alveoli. A 4-year-old child with autoimmune PAP, who was successfully treated with a series of unilateral partial bronchoalveolar lavages by selectively ventilating the other lung with a cuffed endotracheal tube, is presented.

Early cirrhosis in a patient with type I citrullinaemia (CTLN1).

Summary: A 17-month-old girl with type I classical citrullinaemia (CTLN1) presenting with early cirrhosis and unusual ultrastructural features of the liver is reported. The patient is homozygous for a splicing mutation in intron 15 of the argininosuccinate synthase gene.

Successful renal transplantation in a child with ANCA-associated microscopic polyangiitis

Crescentic glomerulonephritis (CGN) is a clinicopathologic entity which is characterized by severe renal dysfunction of rapid onset with glomerular crescents. Type III CGN is associated with the absence of glomerular immune complex deposition (pauci-immune) and is associated with antineutrophil cytoplasmic antibody (ANCA). Microscopic polyangiitis and idiopathic pauci-immune necrotizing glomerulonephritis (NCGN) are strongly associated with ANCA directed against myeloperoxidase (anti-MPO). We describe here an unusual pediatric patient with MPO-ANCA-associated rapidly progressive glomerulonephritis (RPGN), emphasizing the management and outcome of the disease.

Giant lymphadenopathy infiltrated by gaucher cells mimicking lymphoma

Gaucher disease (GD) is a lysosomal storage disease characterized by deficiency of β‐glucocerebrosidase, which results in accumulation of glucocerebroside in reticuloendothelial system, bone marrow infiltration, progressive hepatosplenomegaly, and skeletal complications. Herein we report a 5‐year‐old female with GD receiving enzyme replacement therapy who had giant mesenteric lymphadenopathies. Pediatr Blood Cancer 2009;52:870–871.

Response to early coenzyme Q10 supplementation is not sustained in CoQ10 deficiency caused by CoQ2 mutation

BACKGROUND COQ2 mutations cause a rare infantile multisystemic disease with heterogeneous clinical features. Promising results have been reported in response to Coenzyme Q10 treatment, especially for kidney involvement, but little is known about the long-term outcomes. METHODS We report four new patients from two families with the c.437G→A (p.Ser146Asn) mutation in COQ2 and the outcomes of two patients after long-term coenzyme Q10 treatment. RESULTS Index cases from two families presented with vomiting, nephrotic range proteinuria, and diabetes in early infancy. These patients were diagnosed with coenzyme Q10 deficiency and died shortly after diagnosis. Siblings of the index cases later presented with neonatal diabetes and proteinuria and were diagnosed at the first day of life. Coenzyme Q10 treatment was started immediately. The siblings responded dramatically to coenzyme Q10 treatment with normalized glucose and proteinuria levels, but they developed refractory focal clonic seizures beginning at three months of life that progressed to encephalopathy. CONCLUSIONS In our cohort with CoQ10 deficiency, neurological involvement did not improve with oral coenzyme Q10 treatment despite the initial recovery from the diabetes and nephrotic syndrome.

Diagnosis: Melanoderma after Hematopoietic Stem Cell Transplantation.

Figure 2. A) Skin. A slight perivascular infiltration of mononuclear inflammatory cells and dermal melanophages (arrows) are seen (HEx200). B) An increment in melanin pigment in basal keratinocytes (arrow heads) and dermal melanophages (white arrows) are highlighted by Fontana-Masson stain (x200). Figure 1. Patchy melanoderma lesions mimicking ecchymoses in the legs, trunk.

Covered exstrophy with ectopic intestinal tissue and bifid phallus: one-stage repair of a complex abnormality

Variant presentations of the exstrophy-epispadias complex are rare congenital malformations, such as covered exstrophy with bifid phallus. We describe a male neonate with covered exstrophy with an intestinal remnant and epispadiac bifid phallus. We report this case to emphasize the simultaneous successful repair of bifid phallus and exstrophy in this rare complex abnormality.