Yasemin Özkale

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.

Overview of Pediatric Peripheral Facial Nerve Paralysis: Analysis of 40 Patients

Peripheral facial nerve paralysis in children might be an alarming sign of serious disease such as malignancy, systemic disease, congenital anomalies, trauma, infection, middle ear surgery, and hypertension. The cases of 40 consecutive children and adolescents who were diagnosed with peripheral facial nerve paralysis at Baskent University Adana Hospital Pediatrics and Pediatric Neurology Unit between January 2010 and January 2013 were retrospectively evaluated. We determined that the most common cause was Bell palsy, followed by infection, tumor lesion, and suspected chemotherapy toxicity. We noted that younger patients had generally poorer outcome than older patients regardless of disease etiology. Peripheral facial nerve paralysis has been reported in many countries in America and Europe; however, knowledge about its clinical features, microbiology, neuroimaging, and treatment in Turkey is incomplete. The present study demonstrated that Bell palsy and infection were the most common etiologies of peripheral facial nerve paralysis.

Central retinal artery occlusion in a 13-year-old child as a presenting sign of hyperhomocysteinemia together with high lipoprotein(a) level.

BACKGROUND We describe a child with central retinal artery occlusion and hyperhomocysteinemia. METHODS A 13-year-old girl developed sudden vision loss and was hospitalized for diagnosis and treatment. RESULTS Her physical examination was normal except for her ophthalmologic examination. Her serum homocysteine level and lipoprotein(a) were elevated to 45.27 μmol/L and 61 mg/dL 0-29 mg/dL, respectively. A homozygous mutation was identified for methylenetetrahydrofolate reductase at position C677T. CONCLUSION This report documents central retinal artery occlusion associated with the risk factors of hyperhomocysteinemia caused by methylenetetrahydrofolate reductase C677 T mutation and high lipoprotein(a) level in a child. Retinal artery occlusion is rare in children. This patient emphasizes the need for a systemic evaluation for hyperhomocysteinemia and lipoprotein(a) levels in children with retinal vascular occlusion of uncertain etiology.

Cerebellar Mutism Caused by Primary Varicella Infection in an Immunocompetent Child

Varicella (chickenpox) is a common childhood infection caused by the varicella-zoster virus, which is often self-limiting and usually benign. Although uncommon, neurologic complications of varicella have been documented that include postinfectious cerebellar ataxia, meningoencephalitis, Reye syndrome, myelitis, optic neuritis, stroke, Guillain-Barré syndrome, seventh cranial nerve palsy, and Ramsay-Hunt syndrome. In this case study, the authors describe a 7-year-old girl who presented with varicella skin rash with unsteady gait and anarthria on day 2, and her condition was attributed to cerebellar mutism. To date, this complication has never been reported in a child with primary varicella infection. Therefore, this case study documents a rare but serious complication of childhood chickenpox.

Long-term accidental overdose of levetiracetam in an infant.

Levetiracetam is one of the new anticonvulsant drugs that has a high therapeutic index and potential antiepileptogenic effects. Herein, we report a patient with multidrug refractory epilepsy and Ohtahara syndrome who was accidentally administered 300 mg/kg/d for 35 days by her mother. To our knowledge, there are only a few cases of accidental overdose of levetiracetam in pediatric patients reported in the literature, and this case study is the first to report such a high and long-term dose in an infant who showed no adverse effects.

Association Between Hypocapnia and Febrile Seizures

The purpose of this study is to determine whether hyperthermia-induced hyperventilation with subsequent hypocapnia is relevant to febrile seizures in children. This is only the second study to measure pCO2 and pH values in children with febrile seizures. This prospective case-control study enrolled 18 children who presented with febrile seizures and 18 children who presented with a febrile illness without seizures. Venous blood gas analyses were measured both from the febrile seizure and control group. There was no significant difference in mean blood pH between the febrile seizure and control groups but blood pCO2 was significantly lower in the febrile seizure group. Patients with complex febrile seizures exhibited significantly lower pCO2 levels within 1 hour of seizure onset than patients with simplex febrile seizures. These data indicate that febrile seizures may be associated with hyperventilation and that the ensuing hypocapnia may contribute to the development of febrile seizures.

Tic Disorder Probably Associated with Steroid Responsive Encephalopathy with Autoimmune Thyroiditis (SREAT)

Steroid responsive encephalopathy with autoimmune thyroiditis (SREAT), a rare disorder in individuals of all age groups, including children, is characterized by high titers of anti-thyroid peroxidase antibodies. The present report concerns a previously healthy 12-y-old boy who presented with motor tics. The patient underwent an extensive work-up to identify the underlying etiologies and risk factors predisposing him to tic disorder. Based on the clinical and laboratory results, a diagnosis of SREAT was made. Although some studies have reported associated behavioral and cognitive changes, myoclonus, seizures, pyramidal tract dysfunction, psychosis, and coma. The authors describe a case of tic disorder, probably due to SREAT, as well as its course of treatment.

Pseudotumor Cerebri; Single Center Experience

Objective: This study was planned with the aim of retrospectively reviewing the clinical and laboratory findings and the therapies of patients diagnosed with pseudotumor cerebri, redefining the patients according to the diagnostic criteria revised by Friedman et al. (2013), and comparing them with the literature. Material and Methods: 40 patients diagnosed with pseudotumor cerebri at the Pediatric Neurology Clinic were reevaluated in terms of clinical findings and therapies. The diagnoses were compared according to the modified Dandy and 2013 Friedman criteria. Results: The 40 patients who had been diagnosed as “definite pseudotumor cerebri” using the modified Dandy criteria were reclassified with the 2013 diagnostic criteria and there were no changes in the diagnoses of 37 patients while three patients were shifted to the “probable pseudotumor cerebri” group. The mean age of the patients was 11.15 ± 3.32 years. Forty percent of the patients were prepubertal and 60% were in the pubertal period. Twenty-eight patients were diagnosed with primary and 12 patients with secondary pseudotumor cerebri. Headache was the most common complaint of the patients. All patients received medical treatment. A lumboperitoneal shunt was replaced in one patient who did not respond to treatment.

Correction to: Overview of therapeutic plasma exchange in pediatric neurology: a single-center experience

Unfortunately, the immediate following sentences were incorrectly published in Material and Method section of the original article.

Congenital Segmental Spinal Muscular Atrophy A Case Report

Spinal muscular atrophies are genetic disorders in which anterior horn cells in the spinal cord and motor nuclei of the brainstem are progressively lost. We present a patient with arthrogryposis due to congenital spinal muscular atrophy predominantly affecting the upper limbs. Spinal muscular atrophies with onset at birth may be a cause of arthrogryposis. Localized forms of neurogenic arthrogryposis have been divided into cervical and caudal forms. Our case is similar to the cases described by Hageman et al (J Neurol Neurosurg Psychiatry 1993;56:365-368): severe symmetric lower motor neuron deficit in the upper extremities at the time of birth, no history of injury to the cervical spinal cord or the brachial plexus during delivery, and severe muscle wasting suggesting chronic denervation in utero. Because there was improvement of our patient’s situation, her disease was also possibly nonprogressive and sporadic. To our knowledge, this is the first reported case of a Turkish patient with congenital cervical spinal muscular atrophy. Congenital cervical spinal muscular atrophy affecting predominantly the upper limbs is a relatively rare form of motor neuron disease and should be considered in the differential diagnosis of infants with congenital contractures and severe muscle weakness by wasting mainly confined to the upper limbs.