Triple X Syndrome with a Rare Finding: Cleft Palate

Triple X syndrome (trisomy X) is a sex chromosomal anomaly caused by the presence of an extra X chromosome. The patients with Triple X syndrome have a wide range of phenotypic variability. Some individuals are only mildly affected or asymptomatic. Epicanthal folds, clinodactyly, tall stature and hypotonia are the most commom phenotypic features. Patients also may have seizures, genitourinary abnormalities and premature ovarian failure. We report a patient with Triple X syndrome and cleft palate. By describing this case, we want to draw attention to the association between cleft palate and Triple X syndrome

Mild encephalitis/encephalopathy with a reversible splenial lesion in children

PURPOSE:We aimed to present clinical and radiologic characteristics of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) in children.METHODS:Eight children (5 boys and 3 girls; median age, 5.9 years; age range, 8 months to 14.1 years) diagnosed with MERS between September 2015 and June 2017 were included in the study. We reviewed the patient’s data, including demographic characteristics, prodromal and neurologic symptoms, neurologic examination, magnetic resonance imaging and electroencephalography findings, laboratory findings, treatment, and prognosis.RESULTS:Prodromal symptoms were nausea and vomiting (n=6), diarrhea (n=6), and fever (n=3). Initial neurologic symptoms were seizures (n=4), delirious behavior (n=1), drowsiness (n=1), ataxia (n=1), transient blindness (n=2), abnormal speech (n=2), and headache (n=1). Two patients had a suspected infective agent: urinary tract infection caused by Escherichia coli and gastroenteritis caused by rotavirus. Seven patients had type I lesions, comprising characteristic symmetric ovoid (n=6) and band-shaped (n=1) T2-weighted hyperintense lesions at the spenium of corpus callosum, and one patient had type II lesion with additional symmetric posterior periventricular lesions. The lesions were isointense to mildly hypointense on T1-weighted imaging and did not show enhancement. All lesions displayed restricted diffusion. In all patients, neurologic symptoms completely normalized <48 hours from the onset of symptoms without any sequelae.CONCLUSION:MERS has characteristic imaging features and favorable outcome

Seropositive Neuromyelitis Optica: A Pediatric Case Report and 6-Year Follow-Up

BACKGROUND: Neuromyelitis optica is an autoimmune demyelinating disorder of the central nervous system. Although it has some features in common with multiple sclerosis, it has different clinical features, prognosis, and treatment. We describe a boy with seropositive neuromyelitis optica and his 6-year follow-up. PATIENT: A boy aged 5 years 8 months presented with relapsing optic neuritis, short segment transverse myelitis, and brain involvement. He met the diagnostic criteria for multiple sclerosis fulfilling the McDonald 2010 criteria; however, neuromyelitis optica immunoglobulin-G was detected, and the patient was diagnosed with neuromyelitis optica. He had frequent relapses until immunosuppressive treatment with azathioprine and low-dose prednisone was started. After he was asymptomatic for 2.5 years, prednisone was withdrawn, but he had a new attack soon after withdrawal of the steroid. CONCLUSIONS: It is important to differentiate neuromyelitis optica from multiple sclerosis because early immunosuppressive treatment prevents further disability, and longer periods of immunosuppressive treatment should be planned to prevent relapses. (C) 2013 Elsevier Inc. All rights reserved

Seropositive Neuromyelitis Optica: A Pediatric Case Report and 6-Year Follow-Up

BACKGROUND: Neuromyelitis optica is an autoimmune demyelinating disorder of the central nervous system. Although it has some features in common with multiple sclerosis, it has different clinical features, prognosis, and treatment. We describe a boy with seropositive neuromyelitis optica and his 6-year follow-up. PATIENT: A boy aged 5 years 8 months presented with relapsing optic neuritis, short segment transverse myelitis, and brain involvement. He met the diagnostic criteria for multiple sclerosis fulfilling the McDonald 2010 criteria; however, neuromyelitis optica immunoglobulin-G was detected, and the patient was diagnosed with neuromyelitis optica. He had frequent relapses until immunosuppressive treatment with azathioprine and low-dose prednisone was started. After he was asymptomatic for 2.5 years, prednisone was withdrawn, but he had a new attack soon after withdrawal of the steroid. CONCLUSIONS: It is important to differentiate neuromyelitis optica from multiple sclerosis because early immunosuppressive treatment prevents further disability, and longer periods of immunosuppressive treatment should be planned to prevent relapses. (C) 2013 Elsevier Inc. All rights reserved

Vanishing white matter disease with different faces

Purpose: The goal of this study was to better understand vanishing white matter (VWM) disease, which is one of the most common hereditary white matter disorders, and its relationship to radiologic features, genetic analyses, and clinical findings. Methods: We performed a study on 11 patients to describe the clinical and neuroimaging features of VWM. Patients were grouped into “infantile,” “early childhood,” and “juvenile” based on their onset age. EIF2B1–5 genes encoding five subunits of eukaryotic translation initiation factor 2B (eIF2B) were analyzed in all patients with clinically suspected VWM disease. Results: In brain magnetic resonance imaging (MRI), all patients showed white matter abnormalities with various degrees. The initial clinical presentation in five of patients was ataxia, with severe refractory epilepsy in three patients. In children with infantile-onset VWM, a rapid deterioration of motor function was detected, and the frequency of epilepsy was higher. Two patients showed manifestations of end-stage VWM disease, and one of them had chronic subdural hematoma. One of our patients and his father were diagnosed with Brugada syndrome. Sequencing of the exons and exon-intron boundaries of the EIF2B1–5 genes revealed mutations in the genes EIF2B5 (5 cases), EIF2B3 (3 cases), and EIF2B4 (2 cases). We also found a novel mutation in one patient: c.323_325delGAA in the EIF2B1 gene. Conclusions: In this study, in addition to classical clinical and radiological findings, we wanted to emphasize that we may be confronted with refractory epilepsy (early infancy), cardiac problems, and intracranial complications that may occur in advanced stages

Chronic inflammatory demyelinating neuropathy after etanercept therapy in the course of juvenile idiopathic arthritis

Background. Chronic inflammatory demyelinating neuropathy has been reported after the use of tumor necrosis factor inhibitors. The mechanisms of nerve injury caused by tumor necrosis factor inhibitors are not yet well understood.Case. In this paper, we report a 12 year and nine month old girl who developed chronic inflammatory demyelinating neuropathy in the course of juvenile idiopathic arthritis after etanercept withdrawal. She became non-ambulant with four-limb involvement. She received intravenous immunoglobulins, steroids, and plasma exchange, but had a limited response. Finally, rituximab was given and a slow, but progressive clinical improvement was seen. She was ambulant four months after rituximab treatment. We considered chronic inflammatory demyelinating neuropathy as a probable adverse effect of etanercept.Conclusions. Tumor necrosis factor inhibitors could elicit the demyelinating process, and chronic inflammatory demyelinating neuropathy might persist despite treatment discontinuation. First-line immunotherapy may be inefficient as in our case, and aggressive treatment may be necessary