Elif Acar Arslan

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)

Ataxia is a symptom that is often associated with syndromic inherited diseases. We previously reported the linkage of a novel syndrome, ataxia with blindness and deafness (SCAR3/SCABD, OMIM# 271250), to chromosome 6p21–p23 by linkage mapping of an Arab Israeli consanguineous family. We have now identified by whole-exome sequencing a homozygous missense mutation in the Arab Israeli family in the SLC52A2 gene located in 8qter, therefore excluding linkage of this family to 6p. We confirmed the involvement of SLC52A2 by the identification of a second mutation in an independent family with an identical syndromic presentation, which we suggest to name SCABD2. SCABD2 is therefore allelic to Brown–Vialleto–Van Laere syndrome type 2 defined by prominent motoneuronopathy and deafness, and also caused by SLC52A2 mutations. In the course of this project, we identified a clinically similar family with a homozygous missense mutation in PEX6, which is located in 6p21. Therefore, despite false linkage in the initial family, SCABD1/SCAR3 is located in 6p21 and is caused by PEX6 mutations. Both SLC52A2 and PEX6 should be included in screening panels for the diagnosis of syndromic inherited ataxias, particularly as patients with mutations in SLC52A2 can be ameliorated by riboflavin supplementation.

Delayed diagnosis of cleidocranial dysplasia in an adult: a case report.

OBJECTIVE To describe a rare case of cleidocranial dysplasia, an autosomal dominant inherited disease involving the skeleton and teeth, with delayed diagnosis. CASE REPORT We report a 24-year-old man with cleidocranial dysplasia admitted with hearing loss, rhinolalia, dyspnea and fatigue. Partial absence of clavicles, a bell-shaped ribcage, an open frontal fontanel, unerupted permanent teeth and broad sutures were identified at radiographic examination. CONCLUSION Cleidocranial dysplasia is very rare, and is commonly missed or diagnosed late. Radiographic findings are essential for diagnosis. An open frontal fontanel is a particularly important finding for neurosurgeons in diagnosis. We describe this rare case and discuss the clinical features of CCD.

Intraspinal Lipomas Without Associated Spinal Dysraphism

Introduction: The aim of this study was to report surgical strategies and clinical outcomes for thoraco-lumbar intradural lipomas. Intraspinal lipomas are rare congenital histologically benign neoplasms, which account for less than 1% of all spinal cord tumors. These tumors are most frequently found in the lumbosacral area as components of a dysraphic state, however, intramedullary lipomas are not associated with spina bifida or cutaneous malformations and have only been described as isolated cases among spinal lipomas, where the thoracolumbar region is rarely affected. Case Presentation: Three patients with thoracolumbar intradural lipomas were admitted to our clinic at different points of time. Partial resections and debulking of the tumors were achieved with the guidance of an operating microscope. We performed laminectomies or laminoplasties, for tumor resections. Discussion: Postoperatively, the patients demonstrated significant clinical improvements. In this manuscript we presented our surgical experiences for intraspinal lipomas.

Recurrent lumbar spinal intradural enterogenous cyst: a case report.

Enterogenous cysts mostly present in the cervical and thoracic region of the spinal canal and have only rarely been observed in the lumbar region. We report here a case of a recurrent enterogenous cyst in the lumbar spinal canal. A 24-year old woman presented with lower back and left radicular leg pain for 1 year. She had been operated on for mass lesion at the same level 10 years ago. Lumbar spine MRI showed a large intradural cyst at L2. Other congenital abnormalities were absent. The cyst was subtotally removed and the patient recovered well. Pathological examination revealed that the lesion was a typical enterogenous cyst.

A Case of Neurocutaneous Melanosis and Neuroimaging Findings

Neurocutaneous melanosis is a rare congenital disorder which presents with congenital cutaneous nevi and involvement of the central nervous system. We herein present a rare case of a 2-year-old girl who had central nervous system melanosis and giant congenital melanocytic nevi. Magnetic resonance imaging, especially precontrast T1 images play a crucial role in making the diagnosis combined with the skin findings of physical examination.

Effect of Biperiden Treatment in Acute Orofacial and Extremity Dyskinesia With Methylphenidate Therapy.

Abstract Methylphenidate is a stimulant drug commonly prescribed to individuals with attention-deficit/hyperactivity disorder. The suggested underlying mechanism of acute dyskinesias is dopaminergic transmission increase. We describe a 9-year-old boy with a diagnosis of attention-deficit/hyperactivity disorder admitted to emergency clinic with primarily orofacial and extremity dyskinesia after administration of a first dose of 18 mg OROS (osmotic [controlled] release oral) methylphenidate (Concerta). OROS methylphenidate was discontinued, and the patient’s symptoms resolved within 20 minutes after injection of biperiden by intravenous route (0.04 mg/kg). We wish to emphasize that acute orofacial dyskinesia and extremity dyskinesia can be observed during methylphenidate therapy and that biperiden can be successfully used in the treatment of this unpleasant condition. To the best of our knowledge, this is the first report of the use of biperiden therapy in this condition. This case report highlights the importance for physicians of awareness of dyskinesia as a potential adverse effect of methylphenidate therapy and indicates benefit of biperiden therapy.

Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey

Hereditary ataxias are a group of genetic disorders that are progressive and heterogeneous. The purpose of this study was to develop a practical and time-efficient approach to diagnosing childhood hereditary ataxias by analyzing characteristics and final diagnosis at a tertiary referral clinic for pediatric neurology. 196 patients admitted to the pediatric neurology department were included. The medical records were examined for demographic features, neurological, laboratory, electrophysiological, cranial imaging, and pathological findings, and for genetic studies. Patients were divided into two groups based on whether a final diagnosis was made. The undiagnosed and diagnosed groups consisted of 157 (81.1%) and 39 (19.9%) patients, respectively. The two groups differed in terms of levels of history of consanguineous marriage and mental and motor development before diagnosis, absence of deep tendon reflexes, and the presence of polyneuropathic changes detected by electromyelography (EMG), abnormal visual evoked potentials (VEPs), electroretinography (ERG), and muscle biopsy. To the best of our knowledge, this is the first study involving a large spectrum of diseases related to autosomal recessive ataxias in childhood in Turkey. One out of five patients with hereditary childhood ataxias can be diagnosed with clinical and laboratory and electrodiagnostic examination, especially with the help of imaging facilities, while genetic analysis is not possible for every child. Cranial magnetic resonance imaging followed by EMG provides the most important clues for the diagnosis of hereditary childhood ataxias.

Cerebral Venous Sinus Thrombosis with Internal Jugular Venous Thrombosis in a Male Patient with Nephrotic Syndrome.

Cerebral venous sinus thrombosis with internal jugular vein thrombosis is not reported as a complication in nephrotic syndrome. We report a 40-year-old male with nephrotic syndrome, who had headache during his hospitalization. Conventional diagnostic tests showed extensive thrombosis at the proximal part of superior sagittal sinus, left cortical vein, left sigmoid-transverse sinus and left internal jugular vein. The patient underwent medical treatment and was discharged in good health after 2 weeks. The aim of this study is to report a novel case of cerebral venous sinus thrombosis with internal jugular venous thrombosis in a male patient with nephrotic syndrome.