Turkish Girl Research Articles

Renal Amyloidosis Secondary to Cystic Fibrosis

To the Editor: Cystic fibrosis (CF), an autosomal recessive metabolic disease, involves the sweat glands, respiratory system, gastrointestinal system and reproductive systems. Renal amyloidosis secondary to chronic inflammatory stimulus and glomerular changes rarely becomes apparent. An 11-y-old Turkish girl, offspring of a non consanguineous marriage, with CF (diagnosis was made by repeated measurement of high sweat chloride concentrations), who has been followed since the age of 3, presented with respiratory distress. No obvious disease-related mutations were detected (Fig. 1). The patient had a history of frequent hospitalization because of recurrent pulmonary infection. On current admission, hypoalbuminemia (1.5 g/dL), proteinuria (+2) with a urine stick were detected. Daily urinary protein excretion was in the nephrotic range. Morphological and immunohistochemical findings of the kidney biopsy were diagnostic for Amyloid A (AA) amyloidosis. Kidneys are known to be the least affected organs in CF, however in recent years, the incidence of renal disease in patients with CF has been increasing [1–5]. In the study by Castile et al. five of 23 patients who were found to have proteinuria (range, trace to +2) were reviewed in autopsy series, and all of these patients were noted to have renal pathology at autopsy [1]. In another retrospective study, a review of 33 autopsies of patients with CF revealed 33 % amyloidosis, principally in the spleen, liver, and kidney [2]. Glomerular changes occasionally reported in children and teenagers with CF include AA amyloidosis, glomerulosclerosis, deposits of immune complexes, IgA nephropathy with mesangial proliferations, minimal change disease, membranoproliferative glomerulonephritis, fibrillary glomerulonephritis and postinfectious glomerulonephritis [1–4], Yahiaoui et al. identified 13 adult CF patients with renal disease [5]. Renal biopsies of these patients revealed a heterogeneous spectrum of nephropathies. The prognosis of patients with CF and amyloidosis is generally poor; nearly all patients die within 1 y of clinical presentation. Secondary renal amyloidosis, which was determined in our case, is a rare complication of CF. Screening patients with CF for D. Sener (*) Department of Pediatric Infectious Diseases, Istanbul University, Cerrahpasa Medical Faculty, Istanbul 34098, Turkey e-mail: diclesen71@yahoo.com

Asymmetrical crying face concomitant with Glanzmann's thrombasthenia

We report a case of a 3-month-old Turkish girl who had clinical and laboratory features of Glanzmann's thrombasthenia associated with asymmetric crying facies (ACF). Although ACF is a minor anomaly, it should not be forgotten that it can be accompanied by major congenital anomalies and if this finding is detected, other anomalies should be investigated.

A novel CFHR5 mutation associated with C3 glomerulonephritis in a Turkish girl

C3 glomerulopathy defines a subgroup of membranoproliferative glomerulonephritis (MPGN) characterized by complement 3 (C3)-positive, immunoglobulin-negative deposits in immunofluorescence microscopy. It comprises 3 clinical conditions: dense deposit disease, C3 glomerulonephritis, and complement factor H-related 5 (CFHR5) nephropathy. Mutations in genes encoding regulatory proteins of the alternative complement pathway have been described. A 16-year-old girl was admitted to the hospital due to periorbital edema. Nephrotic syndrome accompanied by low C3 level was diagnosed. Renal biopsy showed MPGN in light microscopy, only C3 deposits in immunofluorescence microscopy, and subendothelial electron dense deposits and capillary basement membrane thickening with double contour formation in electron microscopy. C3 nephritic factor and anti complement factor H antibody were negative. Complement factor H level was normal. Genetic screening showed a novel heterozygous p.Cys269Arg variation in the CFHR5 gene without any mutation in CFH and CFI genes. Eculizumab therapy was started but was unsuccessful at 10months of follow-up. We have identified a novel heterozygous variation in CFHR5-related nephropathy presenting with nephrotic syndrome and persistently low C3 level, thus expanding the genetic and phenotypic spectrum of the disease. Eculizumab seems to be ineffective in this subtype.

Traumatic shoulder fracture-dislocation in a 7-year-old child: a case report

IntroductionIn contrast to adults, traumatic glenohumeral dislocation is a rarely observed condition among children. In some cases, success in durable reduction with conservative methods, and achieving lasting treatment, may not be possible.Case presentationIn this study, the case of a 7-year-old Turkish girl with a Salter–Harris type II fracture and glenohumeral dislocation of the proximal humerus due to a fall from a height of 1.5 meters who underwent open reduction surgery is presented along with a review of the literature.ConclusionOrthopedic surgeons should consider glenohumeral dislocation which is an extremely rare condition when they encounter proximal humerus fractures in pediatric trauma.

From a Daughter of the Republic to a Femme Fatale: The Life and Times of Turkey's First Professional Fashion Model, Lale Belkıs

From a Daughter of the Republic to a Femme Fatale:The Life and Times of Turkey's First Professional Fashion Model, Lale Belkıs Rustem Ertug Altinay (bio) I woke up with a voice. It was not scary. On the contrary, how shall I explain, it was a heart-warming, soothing, echoing, soft voice. It was saying "Belkıs . . . Belkıs . . ." The voice was rising with echoes. When I opened my eyes, I saw a man's arm reaching my bed from the ceiling. A hairy, long, strong arm rested its fist on my bed. As if it was talking to me. That strong voice was saying "Belkıs, a very beautiful life awaits you . . . One day you will do very important things, you will be appreciated . . ." It was repeating these words. —Lale Belkıs, İpek Çoraplar (2006, 23, translation is mine) This dream was experienced by Belkıs Durmaz, a Turkish girl growing up in Istanbul in the 1940s, who, more than half a century later, narrated it in her memoirs. The interpellation however, was by no means unique to Belkıs or her unconscious. It was a reflection of gender politics in early Republican Turkey under the successive Republican People's Party gov­ernments, especially in the promises made by the state to women and the bargains female citizens entered into with the republic under the politics of state feminism. In this essay, I will follow the story of Belkıs Durmaz, who later became the fashion model, actor, singer, songwriter, poet, painter, and designer Lale Belkıs. Moving from her experiences as a woman and her career as Turkey's first professional fashion model, I will discuss the role of fashion in Turkey's modernization and nation-building program. My focus will be on the unique history of fashion modeling in Turkey from its inception as [End Page 113] a state-sponsored performance form to its integration into the capitalist market economy, and the emergence of diplomatic fashion shows where modernization, postcoloniality, nationalism, and gender politics coalesce to create a performance of Turkish national identity. Exploring the entan­gled dynamics of design, production, promotion, and consumption, I will discuss how the gendered dynamics of modernization and national­ism gave rise to a unique style. As I examine the perceived relationship between national identity and the female body, I will also analyze the mul­tiple significations of bodies across competing political paradigms. Early Republican Sartorial Politics and the Girls' Institutes The first two decades of the Republic of Turkey following its inception in 1923 under the leadership of Mustafa Kemal Atatürk were character­ized by a series of legal, political, and cultural reforms aiming to construct the country as a modern, secular (albeit implicitly Sunni Muslim) nation-state. Women's role in Turkey's modernization and nation-state construc­tion program reflected the patterns of women's inclusion in nationalist projects as identified by Floya Anthias and Nira Yuval-Davis (1994): they were expected to continue the biological, social, and cultural reproduction of the collectivity; participate in national, economic, political, and military struggles; reproduce boundaries of the nation; and signify ethnic/national differences. In the context of a transition from a multiethnic Islamic Empire to a secular nation-state based on the idea of one culture, ethnic­ity, language, and religion, women were conceptualized not only as "the builders of a 'new life,' a modern way of living both in the private and the public spheres" (Göle 1997, 51) but also as the symbols of this new life. In order to facilitate women's participation in the modernization and nation-state-building efforts, the government appropriated some demands of the Ottoman and Turkish feminist movement and created a "state feminism" by granting women certain civil and political rights as well as educational and professional opportunities. A particularly important site for the transformation of women's bodies and subjectivities in the service of the Kemalist regime was the girls' insti­tutes. Established in the 1927-28 academic year by restructuring the girls' schools of sartorial arts and crafts built in the late Ottoman Era (Arat 1998, 162), these schools combined the basic postelementary school curricu­lum with...

Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl

Kabuki syndrome (KS) comprises a unique facial pattern with large palpebral fissures, malar flattening and everted lower eyelids, postnatal growth deficiency, skeletal anomalies, dermatoglyphic abnormalities, and mental retardation. Visceral anomalies such as congenital heart defects and urinary tract anomalies have also been reported.[1] KS was described independently by Niikawa et al.[2] and Kuroki et al.[3] A majority of cases have been reported from Japan,[4] but patients are found in other ethnic groups as well.[5,6] Neurologic anomalies are frequently reported for KS, although cortical dysplasia is uncommon. Here, we report a 5-year, 7-month-old female patient with KS who had perisylvian cortical dysplasia. To our knowledge, this is the first Turkish case of KS to present with unilateral perisylvian cortical dysplasia.

Segmental Lentiginosis and Hypomelanosis of Ito with Bilateral Lisch Nodules: Is it an Unusual Presentation of Segmental Neurofibromatosis?

Observation: We here report a 16 year-old Turkish girl with an unusual combination of hiperpigmented macules and hypopigmented patch on her right face and neck region with a sharp demarcation to the midline. Her mother defined that they had first appeared when she was two years old. Bilateral lisch nodules in both eyes were determined through the ophthalmologic examination. While histopathology of a brown macule revealed the features of lentigo and hypopigmented patch showed the features of hypomelanosis of Ito the diagnosis of segmental (NF) was made on the basis of these clinical features and the absence of family history and systemic involvement. However bilateral Lisch nodules were found to be a rare accompanying disorder in segmentel NF, we suggest that our patient have a subtype of this entity. Although we could not demonstrate the genetic mutation, the clinical and histopathological findings indicate us the somatic mosaicism.

Vici Syndrome with Sensorineural Hearing Loss and Laryngomalacia

Researchers at Baskent University, Adana, and other centers in Turkey report a 3-month-old Turkish girl with Vici syndrome complicated by stridor and laryngomalacia.

Vici Syndrome Associated With Sensorineural Hearing Loss and Laryngomalacia

The phenotypically heterogeneous, autosomal recessive Vici syndrome was first described in 1988 in a sister and brother with oculocutaneous albinism, agenesis of the corpus callosum, cataract, cardiomyopathy, cleft lip, and immunodeficiency. Only 14 cases of Vici syndrome have yet been reported, several involving morphologic and functional defects in addition to those described in the initial case. We report on a 3-month-old Turkish girl with Vici syndrome associated with laryngomalacia, further expanding the clinical spectrum. We also review clinical features in all 15 Vici syndrome patients, to distinguish general from less common signs. To the best of our knowledge, this report is the first of a Turkish patient with Vici syndrome.

Involvement of the Globus Pallidus in Giant Axonal Neuropathy

Giant axonal neuropathy is a rare autosomal recessive disorder commonly characterized by chronic, progressive dysfunction in the peripheral nervous system. Lesions also can occur in the central nervous system, especially in the brainstem and cerebellum. We present cranial magnetic resonance imaging and magnetic resonance spectroscopy findings in a 5-year-old Turkish girl with giant axonal neuropathy. This study is the second to describe involvement of the globus pallidus on T(2)-weighted imaging in giant axonal neuropathy. Magnetic resonance spectroscopy of cerebellar white matter lesions and globus pallidus revealed metabolic changes, including increased choline/creatine ratios, increased lactate, and reduced N-acetyl aspartate/creatine ratios. Thus, magnetic resonance spectroscopy did not produce findings specific to giant axonal neuropathy, but indicated progressive neuronal loss, demyelination, and gliosis in the cerebellar white matter.

1036 Gracile Syndrome in a Turkish Newborn Infant Caused by a Homozygous Mutation (P99L) in Complex Iii Assembly Factor BCS1L

Background and AimGRACILE syndrome, a neonatal, autosomally recessive disorder found in Finland, featuring growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death, is caused by a homozygous mutation...

Biepicondylar fracture presenting with elbow dislocation: a case report

IntroductionBiepicondylar fracture of the elbow is very rare, and to date there have only been three reports of this injury and its treatment in the English scientific literature. This case report evaluates the surgical internal fixation of a biepicondylar fracture of the elbow with an associated dislocation.Case presentationWe report the case of a 15-year-old Turkish girl with a biepicondylar fracture dislocation of the left elbow. Open reduction and an internal fixation operation were applied. There were no complications.ConclusionIn these injuries, open reduction and internal fixation appear to be a good method to restore elbow stability and function.

Primary familial hypomagnesemia syndrome: a new approach in treatment

Primary familial hypomagnesemia is a rare genetically determined disorder characterized by a selective defect in magnesium (Mg) absorption. Mutations of the transient receptor potential melastatin 6 (TRPM6) gene, which codes for TRPM6, the basic channel for intestinal Mg absorption and a new member of the transient receptor potential (TRP) family of cation channels, result in primary hypomagnesemia. Here we present a 14-year-old Turkish girl whose first symptoms manifested as neonatal tetany at 17 days old. During her follow-up, she was mainly taking high-dose oral Mg therapy. However, intravenous Mg and calcium (Ca) therapies were given during symptomatic attacks. When her requirements for Ca and Mg were increased during the pubertal growth period, which overlapped with increased loss of Mg during the summer, oral Ca and active vitamin D (calcitriol, Rocaltrol) were added. Calcitriol is needed because hypomagnesemia results in decreased production and resistance to the actions of active vitamin D, which leads to the disturbance of intracellular signal transmission. Although high-dose oral Mg is reported as a sufficient therapy in most of the patients with primary familial hypomagnesemia, addition of active vitamin D to the usual oral Mg and Ca therapy seems very useful, as in this patient.

Concurrent Crimean-Congo Hemorrhagic Fever and Visceral Leishmaniasis in a Turkish Girl

In this article, a case of Crimean-Congo hemorrhagic fever (CCHF) and visceral leishmaniasis coinfection in a 14-month-old girl is reported. The case has been evaluated according to two different points of view based on the coexistence of CCHF and visceral leishmaniasis and a strongly suggested horizontal transmission of CCHF from her father. To the best of our knowledge, this coinfection has not been previously reported in literature.

Clinical Disease Caused byKlebsiellain 2 Unrelated Patients With Interleukin 12 Receptor β1 Deficiency

Patients with interleukin 12 (IL-12)p40 or IL-12 receptor β1 (IL12Rβ1) deficiencies are prone to develop infections caused by mycobacteria and salmonella; other infections have only been rarely observed. In this report we describe 2 unrelated patients with complete autosomal recessive IL12Rβ1 deficiency who suffered from sepsis attributable to Klebsiella pneumoniae. A Mexican boy suffered from disseminated bacille Calmette-Guérin disease and infections caused by K pneumoniae and Candida albicans and had a fatal outcome. A Turkish girl living in France suffered from disseminated Nocardia nova infection and K pneumoniae sepsis. Therefore, Klebsiella infections should be considered in patients with IL12Rβ1 deficiency. Conversely, IL12Rβ1 deficiency should be considered in patients with unexplained klebsiellosis.

Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5

We described a Turkish girl with Chanarin-Dorfman syndrome who developed liver cirrhosis in the early infancy. She had all the clinical features of Chanarin-Dorfman syndrome such as ichthyosis, Jordan's anomaly, fatty liver disease and mild ectropion. The diagnosis was confirmed with a novel ABHD5 mutation. Liver steatosis or steatohepatitis with or without hepatomegaly is the predominant finding of Chanarin-Dorfman syndrome. Cirrhosis has been reported in patients with long-duration disease. Local factors or dysfunction of local proteins such as mutations or polymorphisms in hepatic microsomal lipase and arylacetamide deacetylase may contribute the severity of liver involvement, and steatosis may progress to cirrhosis in the early infancy in Chanarin-Dorfman syndrome.

Ulcerative colitis associated with Takayasu's arteritis in a child

Takayasu's arteritis (TA) and ulcerative colitis (UC) are chronic inflammatory diseases of unknown aetiology, and their coexistence is very rare. A 14-year-old Turkish girl presented with abdominal pain, nausea, vomiting and weight loss. UC was diagnosed based on physical examination and laboratory investigations and was confirmed by colonoscopic biopsies. TA developed approximately 1 year later, and was diagnosed with angiography performed for ongoing severe abdominal pain in spite of well-controlled UC. Patients suffering from chronic inflammatory diseases such as UC must be investigated for other inflammatory diseases such as TA, especially if the response to immunosuppressant therapy is unsatisfactory. Findings from our patients suggest that paediatricians must remain alert to the possibility of abdominal vasculitis in patients with UC and unresolved abdominal pain in spite of clinical remission.

Metabolic disease with autoimmune phenomena: 2 cases of SLE-like disease in young children diagnosed with lysinuric protein intolerance

The second son of consanguineous parents was repeatedly evaluated for failure to thrive, intermittent vomiting, diarrhea, hepatosplenomegaly and panzytopenia since his first year of life. Specific diets had no effect. Bone marrow aspiration showed hemophagocytosis, but no signs of malignancy. At the age of 6 years he developed a hemolytic uremic syndrome-like disease. Renal biopsy revealed mesangioproliferative glomerulonephritis, classified as Lupus nephritis IIa, consistent with positive findings for ANA (1:320), La-, Sm-, RNP-, histone- and phospholipid antibodies, so he received immunosuppressive therapy. A 5-year-old Turkish girl with consanguineous parents presented with polyarthritis, fatigue, diffuse hair loss, hepatosplenomegaly and ascites; the laboratory work up showed leukopenia, Coombs-positive anemia, elevated liver enzymes, high IgG, low complement, ANA titer 1:640 with positive anti-DNA-, Ro-, U1RNP- and histone-antibodies. Diagnosis of a lupus-like disease was made and she was started on immunosuppressive therapy. Metabolic studies finally led to both patients's diagnosis: Arginine, lysine and ornithine were low in the serum, but high in the urine, casting suspicion on lysinuric protein intolerance, a rare metabolic disease characterized by failure to thrive, muscle hypotonia, vomiting, proteine avoidance and hepatomegaly. Immunologic abnormalities with positive autoantibodies, vasculitis, arthritis and glomerulonephritis have also been described. The underlying cause is a defective amino acid transport mechanism, leading to a lack of cationic amino acids in the serum and consecutive perturbation of the urea cycle. In the second case this diagnosis could even be confirmed by sequencing the SLC7A7 gene, revealing a new homozygous mutation (Cys427Arg).

Mild Recessive Bullous Congenital Ichthyosiform Erythroderma due to a Previously Unidentified Homozygous Keratin 10 Nonsense Mutation

We have identified a previously unreported homozygous nonsense mutation p.Cys427X in the keratin 10 (K10) gene (KRT10) in a Turkish girl with recessive bullous congenital ichthyosiform erythroderma (BCIE) showing superficial blistering. p.Cys427X is located upstream of the previously reported homozygous truncation mutation within the same exon 6 causing mRNA decay. Immunohistochemical examination showed a complete absence of K10 protein in the patient's epidermis. The findings of this study suggest that K10 knockout patients show unique clinicopathological features of clinically mild BCIE with blisters occurring within the granular layer. In addition, the unaffected, heterozygous carriers of the mutation indicate that the K10 peptide from one normal allele alone is sufficient for keratin network formation.

Fixed drug eruption at sites of ear piercing

Conflict of interest: none declared. Fixed drug eruption (FDE) at the sites of previous trauma or inflammation is a rare finding. We report two patients with FDE located unilaterally at sites of ear piercing and previous allergic contact eczema. Patient 1, a 24‐year‐old Turkish girl, presented with two circular, indurated violaceous plaques, 10 and 15 mm in diameter, on the dorsal and ventral sides of the right earlobe, respectively, exactly at the site of previous ear piercing (Fig. 1). Patient 2, an 18‐year‐old Turkish girl, presented with a similar circular indurated violaceous plaque, 10 mm in diameter, on the ventral side of the left earlobe exactly at the site of ear piercing. In both patients, the lesions had developed a few hours after the ingestion of analgesic for dysmenorrhoea; for patient 1, a 275‐mg tablet of naproxen sodium, and for patient 2, 20‐mg tablet of piroxicam or tenoxicam. This was the fourth and the fifth attack, respectively, each time occurring at menstruation. Each time, the lesion cleared within 1 week, leaving residual pigmentation. The earlobes had been pierced at the age of 7 years in patient 1, and in early infancy in patient 2. Both girls had previously experienced attacks of contact eczema when wearing earrings made of metals other than gold, and patch testing at that time had revealed contact sensitivity to nickel sulphate in both. Both had been free of eczema for the last 2–3 years, since they had begun avoiding nickel‐containing earrings. Dermatological examination revealed no keloid or papulonodular infiltration on the earlobes.