Optic disc drusen mimicking papilledema in an infant with Joubert syndrome.

Joubert Syndrome is a rare autosomal recessive disorder characterized by absence or underdevelopment of the cerebellar vermis. Various ocular and oculomotor findings are frequently seen in cases with Joubert Syndrome. However, only three adolescent patients with Joubert Syndrome were diagnosed with optic disc drusen. Here we present an infant case of Joubert Syndrome referred with papilledema and diagnosed with optic disc drusen.

Syncope or seizure? The diagnostic value of synchronous tilt testing and video-EEG monitoring in children with transient loss of consciousness.

Syncope and seizure are frequently encountered problems in daily neurology practice, and they also share common findings such as transient loss of consciousness and atonia. Sometimes, it is difficult to make a differentiation between the two entities using only clinical findings. In this study, nineteen patients aged between 5 and 20 years who had recurrent transient loss of consciousness and occasional atonic events were examined with synchronous tilt testing and video-EEG recordings. Eleven patients were initially diagnosed with epilepsy, and they were given antiepileptic drugs. Eight patients displayed neurally mediated syncope during examination. Four of the eight patients had cardioinhibitory syncope type 2B. Three-fourths of the patients with syncope had been initially diagnosed with epilepsy and were prescribed antiepileptic drugs. One patient with cardioinhibitory syncope who had prolonged asystole and frequent attacks needed a cardiac pacemaker. Following implantation, she had no new attacks. Synchronous tilt testing and video-EEG recordings give more information than doing them separately, and they are helpful in the differential diagnosis of syncope and seizure.

An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy.

Severe myoclonic epilepsy of infancy (SMEI) is a well-known catastrophic epileptic syndrome. Several mutations of the sodium channel alpha 1 subunit (SCN1A ) gene were reported in patients with SMEI. Most of the mutations were DE NOVO. Inherited truncating mutations are very rare. Here a patient with a new nonsense mutation (c.4933 C>T; p.R1645X) of the gene is described. This mutation was inherited from the father who had only febrile seizures during childhood.

Identification of axonal involvement in Hallervorden-Spatz disease with magnetic resonance spectroscopy.

Hallervorden-Spatz disease is a neurodegenerative disorder associated with cysteine-iron complex accumulation typically seen as bilateral symmetrical hypointense signal changes in the medial globus pallidus on magnetic resonance imaging. We used magnetic resonance spectroscopy to identify and quantify neuronal damage in two siblings with Hallervorden-Spatz disease. The first patient presenting with a rapidly progressive extrapyramidal syndrome had markedly decreased N-acetylaspartate (NAA) to creatinine (Cr) ratios in the globus pallidi and the periatrial white matter. He also had increased myoinositol (mI) to creatinine (Cr) ratios implying glial proliferation in the affected regions. However the second patient who had the initial presentation of disease had normal NAA/Cr and mI/Cr ratios. These findings indicate that the quantification of NAA:Cr and mI:Cr ratios might be used to predict the extent of neuronal axonal loss and glial proliferation in patients with Hallervorden-Spatz disease respectively.