Zuhal Akçören

Transverse testicular ectopia with persistent müllerian duct syndrome

Transverse testicular ectopia is rarely associated with persistent müllerian duct syndrome. The ninth pediatric case of transverse testicular ectopia with persistent müllerian duct syndrome is reported. The clinical and operative findings and treatment are discussed. The importance of abdominal exploration in the presence of two gonads in one inguinal side and the avoidance of dissection of müllerian structures has been stressed.

Inflammatory pseudotumor causing intestinal obstruction : Diagnostic and therapeutic aspects

The authors report an unusual presentation of inflammatory pseudotumor (IPT) that caused intestinal obstruction in a 9-year-old boy, and discuss the clinicopathologic features of this rare entity with emphasis on diagnosis and treatment. There are no specific presumptive clinical and laboratory findings, including tumor markers and imaging techniques, that distinguish mesenteric IPT from other abdominal mass lesions. The most important diagnostic aid is to bear this entity in mind when a child presents with intestinal obstruction associated with an abdominal mass. Radical unnecessary surgical procedures or potentially harmful therapy should be avoided, and appropriate treatment is achieved by total excision of the lesion in most of the cases.

A case of Pearson syndrome associated with multiple renal cysts.

A 41-day-old infant who had severe metabolic acidosis, anemia, bleeding, hypoglycemia, and proximal tubulopathy was diagnosed with Pearson syndrome. Fibrosis in the liver, severe iron deposition in hepatocytes, and multiple renal cortical cysts were found on postmortem examination. Southern blot analysis of mitochondrial DNA obtained from peripheral blood revealed a heteroplasmic deletion of approximately 3.5 kilobases.

Multiple hyperplastic nodules in the liver with congenital absence of portal vein: MRI findings

We describe a 10-year-old girl with congenital absence of the portal vein (CAPV) and multiple hyperplastic nodules in the liver. MRI appearances of the liver lesions and the portocaval anastomosis between the inferior mesenteric vein and internal iliac veins are presented. In addition, the relevance of CAPV and nodular lesions of the liver is reviewed.

Griscelli syndrome: Report of Three Cases

The clinical features of three children with Griscelli syndrome and autopsy findings of two are presented. The patients were 5 years, 9 months, and 3 months old, respectively. Clinical features included partial albinism, hepatosplenomegaly, and various neurological symptoms. Light and electron microscopic studies of the skin were compatible with Griscelli syndrome. Postmortem examination of the viscera and central nervous system revealed lymphohistiocytic infiltration with erythrophagocytosis. Bilateral diffuse involvement of the central nervous system, cranial nerve, and spinal cord was detected in both cases.

Cytomegalovirus-related congenital nephrotic syndrome with diffuse mesangial sclerosis

This case report describes congenital nephrotic syndrome in a 2-month-old girl associated with cytomegalovirus infection. Histological examination on renal biopsy showed diffuse mesangial sclerosis and cytomegalic inclusion bodies in the tubular cells and in some glomeruli. Cytomegalovirus (CMV) polymerase chain reaction (PCR) titer in serum was high. Remission of pulmonary and renal symptoms was achieved with ganciclovir in 3 weeks. No recurrence of proteinuria was observed during the follow-up period of 14 months. These finding suggested a causal relationship between congenital nephrotic syndrome and cytomegalovirus infection.

Chest wall hamartoma: An alarming chest lesion with a benign course

Chest wall hamartoma is a very rare mass lesion of the chest wall that is manifest at birth or in early infancy with deformity of the thoracic wall and/or varying grades of respiratory distress. The authors report on an 11-month-old infant presenting with chest wall hamartoma who was treated by en bloc excision of the lesion including the involved ribs. They emphasize the importance of early and complete excision of the lesion even in minimally symptomatic patients to avoid lethal respiratory complications, more severe postoperative orthopedic problems, and malignant transformation.

Calpain-3 mutations in Turkey

Autosomal recessive limb-girdle muscular dystrophies (LGMD2s) are a clinically and genetically heterogeneous group of disorders, characterized by progressive involvement of the proximal limb girdle muscles; the group includes at least 10 different genetic entities. The calpainopathies (LGMD2A), a subgroup of LGMD2s, are estimated to be the most common forms of LGMD2 in all populations so far investigated. LGMD2A is usually characterized by symmetrical and selective atrophy of pelvic, scapular and trunk muscles and a moderate to gross elevation of serum CK. However, the course is highly variable. It is caused by mutations in the CAPN3 gene, which encodes for the calpain-3 protein. Until now, 161 pathogenic mutations have been found in the CAPN3 gene. In the present study, through screening of 93 unrelated LGMD2 families, we identified 29 families with LGMD2A, 21 (22.6%) of which were identified as having CAPN3 gene mutations. We detected six novel (p.K211N, p.D230G, p.Y322H, p.R698S, p.Q738X, c.2257delGinsAA) and nine previously reported mutations (c.550delA, c.19_23del, c.1746-20C>G, p.R49H, p.R490Q, p.Y336N, p.A702V, p.Y537X, p.R541Q) in the CAPN3 gene. There may be a wide variety of mutations, but clustering of specific mutations (c.550delA: 40%, p.R490Q: 10%) could be used in the diagnostic scheme in Turkey.

Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R

Combined immunodeficiencies (CIDs) comprise a heterogeneous group of monogenic disorders manifesting with lymphocyte defects, recurrent infections and dysregulated immune response. Recently, we and others have described clinical and molecular features of the combined immunodeficiency syndromes

Paratesticular metastasis from Wilms tumor associated with a hydrocele

Metastatic sites other than the lungs, lymph nodes, and liver are unusual for Wilms tumor (WT). Intra‐scrotal metastasis is very rare. We report a 3‐year‐old boy with stage IIA WT, who experienced paratesticular metastasis 2 months after surgery for an abdominal recurrence. He had right scrotal hydrocele at initial diagnosis. The patient underwent right radical orchiectomy, and pathological examination revealed paratesticular WT metastasis. Intra‐abdominal and peritoneal disseminated metastases followed. We considered that tumor cells spread through the patent processus vaginalis and grew at paratesticular space in hydrocele. One month after the end of 12 months of salvage chemotherapy and abdominal radiotherapy, the patient has no evidence of disease.