Hira Altunbüker

Background. Griscelli syndrome (GS) is a rare genetic disorder characterized by oculocutaneous albinism and variable immune dysfunction. Among three distinct types of GS, occurring due to different genetic mutations; GS type 1 presents with neurological manifestations, hemophagocytic lymphohistiocytosis (HLH) generally develops in GS type 2, and GS type 3 primarily exhibits oculocutaneous albinism. HLH, a life-threatening condition with excessive immune activation, may occur secondary to various triggers, including infections, and develop in different tissues, as well as in the testis, similar to Erdheim-Chester disease. Case. After referral at 19 days of age with restlessness, left testicular swelling, and erythema, an infant was diagnosed with bilateral hydrocele with left testicular torsion by testicular ultrasound, leading to a left orchiectomy. Pathology showed testicle and spermatic cord hemorrhagic necrosis. A week later, the infant presented with right testicular swelling and hepatosplenomegaly. He had silvery gray hair. We administered broad-spectrum antibiotics for increased acute phase reactants. Viral panels, including cytomegalovirus and Epstein-Barr virus, were negative. Laboratory findings indicated cholestasis and disseminated intravascular coagulation. Bone marrow aspiration revealed hemophagocytosis and increased histiocytes. Microscopic hair examination supported the diagnosis of GS. Sanger sequencing revealed the homozygous mutation c.217T>G (p.W73G) in RAB27A. Conclusion. Prompt diagnosis and treatment of HLH are crucial to prevent progression to multi-organ failure and death. This case highlights the diverse tissue involvement and diagnostic challenges in Griscelli syndrome type 2.

Purpose: Muscle weakness and delays in motor development are more common problems in children with neurofibromatosis type 1. Gross Motor Function Measurement-88 is widely used tool to evaluate motor functions in children with developmental disabilities. We aimed to investigate validity of the Gross Motor Function Measurement-88 in a sample of Turkish children with neurofibromatosis type 1. Methods: Aged between 5 to 17 years 40 (20 male/20 female) children with neurofibromatosis type 1. participated in this study. To asses validity of Gross Motor Function Measurement-88, Manual Muscle Test was done seven muscle groups in upper and lower limbs bilaterally by a physical therapist. Results: The mean age was 9.7 ± 3.81 years. A positive moderate to strong correlation was found between Manual Muscle Test and Gross Motor Function Measurement-88 subdomains (r = 0.317-0.668; p <0.05). Conclusion: Gross Motor Function Measurement-88 is a valid measurement for evaluating gross motor functions in children with neurofibromatosis type 1. Identifying motor developmental delays in children with neurofibromatosis type 1 will be a guide for establishing early intervention programs and determining symptom-specific rehabilitation goals. We recommend the use of Gross Motor Function Measurement-88 in children with neurofibromatosis type 1 for evaluating gross motor function.

Rosette-forming glioneuronal tumors (RGNT) are extremely rare mostly benign tumors of the central nervous system, which are often studied for its histological aspects despite relatively small numbers of clinical especially radiological knowledge.Despite the increasing number of publications on different localizations and treatment protocols, the morphologic and temporal development process of this rare tumor entity is not clear. We were able to coincidentally observe the entire course of the tumor growth of a RGNT on subsequent MRI examinations in a typical case with mild clinical symptoms and no other neurological illnesses, thus possible clinical complications were prevented.

Purpose: To assess physical fitness, gross motor capacity, and their relationship in children with neurofibromatosis type 1 (NF1). Materials and Methods: Children with NF1 (n=40, age 6-17, mean 9.70±3.8 years) and typically developing children (TDC) (n= 28, age 5,5-17,5, mean 11.35±3.0 years) were evaluated by the six-minute walking test, sit-up test, sit-and-reach test, flamingo balance test and body mass index. Gross motor capacity was assessed with the Gross Motor Function Measure D and E subdimensions. Results: Physical fitness and gross motor capacity differed significantly between NF1 and TDC (p<0.05). Physical fitness parameters correlated with gross motor capacity to a fair to moderate degree in children with NF1 (r:0.42-0.71; p<0.05). Conclusions: Physical fitness and gross motor capacity are correlated and both are impaired in children with NF1. Exercise programs aiming to increase these functions can be recommended: therefore, areas of intervention can be defined from tests described in this study. Amaç: Nörofibramatozis Tip 1 (NF1) tanılı çocuklarda kaba motor kapasite, ve fiziksel uygunluğu ve birbirleri arasındaki ilişkiyi değerlendirmektir. Yöntem: NF1'li çocuklar (n=40, yaş 6-17, ortalama 9,70±3.8 yıl) ve tipik gelişen çocuklar (TGÇ) (n= 28, yaş 5,5-17,5, ortalama 11,35±3,0 yıl) altı dakikalık yürüme testi, mekik testi, otur-uzan testi, flamingo denge testi ile değerlendirildi ve vücut kitle indeksi hesaplandı. Kaba motor fonksiyon, Kaba Motor Fonksiyon Ölçütü D ve E alt boyutları ile değerlendirildi. Sonuçlar: Fiziksel uygunluk ve kaba motor kapasite NF1 ve TDC arasında anlamlı farklılık gösterdi (p<0,05). Fiziksel uygunluk parametreleri, NF1'li çocuklarda kaba motor kapasitesi ile orta derecede korelasyon gösterdi (r:0,42-0,71; p<0,05). Tartışma: NF1 tanılı çocuklarda fiziksel uygunluk ve motor kapasite etkilenmiştir ve birbirleri ile ilişkilidirler. Etkilenen fonksiyonları arttırmaya yönelik egzersiz programları önerilebilir. Sonuç olarak; müdahale alanları çalışmamızda tanımlanmış testler ile belirlenebilir.

BACKGROUND AND PURPOSE: Synthetic MRI enables the generation of various contrast-weighted images and quantitative data in a reasonable scanning time. We aimed to use synthetic MRI to assess the detection and underlying tissue characteristics of focal areas of signal intensity and normal-appearing brain parenchyma and morphometric alterations in the brains of patients with neurofibromatosis type 1. MATERIALS AND METHODS: Conventional MR imaging and synthetic MRI were prospectively obtained from 19 patients with neurofibromatosis type 1 and 18 healthy controls. Two neuroradiologists independently evaluated focal areas of signal intensity on both conventional MR imaging and synthetic MRI. Additionally, automatically segmented volume calculations of the brain in both groups and quantitative analysis of myelin, including the focal areas of signal intensity and normal-appearing brain parenchyma, of patients with neurofibromatosis type 1 were performed using synthetic MRI. RESULTS: The comparison of conventional MR imaging and synthetic MRI showed good correlation in the supratentorial region of the brain (κ = 0.82–1). Automatically segmented brain parenchymal volume, intracranial volume, and GM volumes were significantly increased in the patients with neurofibromatosis type 1 (P < .05). The myelin-correlated compound, myelin fraction volume, WM fraction volume, transverse relaxation rate, and longitudinal relaxation rate values were significantly decreased in focal areas of signal intensity on myelin and WM maps (P < .001); however, GM, GM fraction volume, and proton density values were significantly increased on the GM map (P < .001). CONCLUSIONS: Synthetic MRI is a potential tool for the assessment of morphometric and tissue alterations as well as the detection of focal areas of signal intensity in patients with neurofibromatosis type 1 in a reasonable scan time.