Saliha Ciraci

Magnetic Susceptibility Changes in the Basal Ganglia and Brain Stem of Patients with Wilson’s Disease: Evaluation with Quantitative Susceptibility Mapping

Objectives: Wilson’s disease (WD) is characterized with the accumulation of copper in the liver and brain. The objective of this study is to quantitatively measure the susceptibility changes of basal ganglia and brain stem of pediatric patients with neurological WD using quantitative susceptibility mapping (QSM) in comparison to healthy controls. Methods: Eleven patients with neurological WD (mean age 15 ± 3.3 years, range 10–22 years) and 14 age-matched controls were prospectively recruited. Both groups were scanned on a 1.5 Tesla clinical scanner. In addition to T1- and T2-weighted MR images, a 3D multi-echo spoiled gradient echo (GRE) sequence was acquired and QSM images were derived offline. The quantitative measurement of susceptibility of corpus striatum, thalamus of each hemisphere, midbrain, and pons were assessed with the region of interest analysis on the QSM images. The susceptibility values for the patient and control groups were compared using two-sample t-test. Results: One patient with WD had T1 shortening in the bilateral globus pallidus. Another one had hyperintensity in the bilateral putamen, caudate nuclei, and substantia nigra on T2-weighted images. The rest of the patients with WD and all subjects of the control group had no signal abnormalities on conventional MR images. The susceptibility measures of right side of globus pallidus, putamen, thalamus, midbrain, and entire pons were significantly different in patients compared to controls (P < 0.05). Conclusion: QSM method exhibits increased susceptibility differences of basal ganglia and brain stem in patients with WD that have neurologic impairment even if no signal alteration is detected on T1- and T2-weighted MR images.

Neuroblastoma in a Child With Wolf-Hirschhorn Syndrome.

Neuroblastoma is the most common extracranial solid tumor of childhood originating from sympathetic nervous system cells. Neuroblastoma has also been diagnosed in conjunction with other congenital conditions such as Hirschsprungs disease, congenital hypoventilation disorder, and neurofibromatosis type 1. Wolf-Hirschhorn syndrome is a congenital disorder caused by microdeletion of short arm of chromosome 4 encoding MSX1 gene with characteristic facial features. We describe a child with dysmorphic features, developmental delay, mental retardation who developed neuroblastoma at 2 years of age and cytogenetic analysis of blood lymphocytes revealed an interstitial deletion of 4p(15,2). To best our knowledge, this report is the first report of neuroblastoma in a child with Wolf-Hirschhorn syndrome; and the reported association may be an important clue for oncological follow-up of patients with Wolf-Hirschhorn syndrome.

Imaging Findings of Intraluminal Duodenal Duplication Cyst in a Pediatric Patient

A 10-year-old girl was admitted with complaints of abdominal discomfort episodes. Physical examination was unremarkable, and laboratory findings were within normal limits, which were as follows: hemoglobin, 13.5 g/dL; white cell count, 6 10/mL; platelet count, 280 10/mL; blood urea nitrogen, 11 mg/dL; creatinine, 0.6 mg/dL; aspartate aminotransferase, 15 U/L; alanine aminotransferase, 17 U/ L; alkaline phosphatase, 60 U/L; total bilirubin, 0.5 mg/dL; and amylase, 35 U/L. Abdominal ultrasonography and computed tomography exhibited an intraluminal cyst in the second part of the duodenum (Figures 1A and 1B). The cyst was located distal to the papilla, measuring 13 21 39 mm. The enhanced and multilayered wall of the cyst, which was identical to the duodenum wall, was well demonstrated on magnetic resonance imaging (Figures 1C and 1D). The imaging revealed a shared medial wall of both the cyst and the duodenum. There was no dilatation of the biliary tree, and the pancreas and gall bladder appeared normal. Based on the imaging findings, a diagnosis of intraluminal duodenal duplication cyst was established. Surgical resection was planned as the treatment of choice.

A Case of Familial Hemophagocytic Lymphohistiocytosis Type 4 With Involvement of the Central Nervous System Complicated With Infarct

Background: Familial hemophagocytic lymphohistiocytosis (HLH) is a fatal disease affecting infants and very young children. Central nervous system involvement of HLH can cause catastrophic results. Method: We present a case with cranial involvement of familial HLH type 4 who showed diffuse infiltration of white matter complicated with intracranial thrombosis. A 5-year-old girl from a consanguineous couple presented with fever and pancytopenia, and was referred to our hematology unit. Examination revealed fever, lymphadenopathy, and hepatosplenomegaly. Ultrasound examination revealed hepatosplenomegaly and free intra-abdominal fluid. HLH was revealed on bone marrow aspiration biopsy. Defective natural killer and T lymphocyte cytotoxicity using degranulation tests was determined. In the genetic analysis, syntaxin gene mutation was found. On T2-weighted and T2-fluid-attenuated inversion recovery magnetic resonance imaging (MRI), diffuse hyperintense signal changes of cerebral white matter, indicating white matter demyelination, were observed. A second brain MRI showed an acute infarct involving the left temporooccipital region. Immunosuppressive therapy according to the HLH 2004 protocol was started. The infarct resolved but white matter lesions were stable on the brain MRI that was performed 1 month later. Brain MRI taken 4 months after the first examination showed stable cerebral white matter lesions, but hyperintense signal changes appeared in the cerebellar white matter and were regarded as progression. The patient died because of infection despite immunosuppressive therapy. Conclusions: Physicians managing patients with HLH must be vigilant about the possibility of central nervous system involvement including stroke.