Clinical, pathological and radiological survey of patients with Leigh syndrome.

AIM: The aim of this study was to evaluate the clinical, pathological and radiological survey of patients affected by Leigh syndrome. METHODS: Eleven patients with Leigh disease were evaluated at Dokuz Eylül University, School of Medicine, Department of Pediatric Neurology. All patients underwent neurological evaluation with detailed medical and family history. Muscle biopsy from quadriceps muscle, brain magnetic resonance imaging and brain magnetic spectroscopy were obtained. RESULTS: The patients were aged between 1 month and 8 years (mean age: 2.29+/-2.58 years). The most common presentation findings were psychomotor retardation and acute metabolic encephalopathy. All patients had elevated lactate in the blood and/or cerebrospinal fluid. Except in two patients, brain magnetic resonance imaging revealed abnormal symmetrical lesions in the brainstem and basal ganglia. Brain magnetic resonance spectroscopy revealed abnormal lactate peak in all patients. The muscle biopsy of two patients showed cytocrom-c oxidase deficiency and measurement of respiratory chain complex in one patient revealed complex I and IV deficiency. One patient was found to carry mitochondrial T8993C mutation. CONCLUSIONS: There are no specific markers for Leigh disease which lead to extensive work-up. The disease should be considered in patients who present progressive neurologic symptoms involving brainstem and basal ganglia.

The benign course of carotid-cavernous fistula in a child.

Carotid-cavernous fistulas (CCF) are reported very rarely in childhood and their clinical course and prognosis are uncertain. We report a 9-year-old boy presented with left eye swelling, neck pain and headache. The MRI findings suggested a CCF with enlarged left superior ophthalmic vein. Ocular Doppler ultrasonography revealed enlarged left superior ophthalmic vein, and arterialization of Doppler wave form. The cerebral angiogram showed normal anatomy. Control Doppler examination findings supported the diagnosis of closure of fistula. The clinical and radiological findings of this unusual presentation are discussed.

Limb girdle muscular dystrophy type 2A presenting with cardiac arrest.

The occurrence of respiratory failure in progressive neuromuscular disorders is well recognized. This failure is observed most commonly in Duchenne dystrophy but sometimes occurs in Becker's, limb-girdle, and facioscapulohumeral dystrophies. Patients usually present acutely or subacutely with cyanosis and cor pulmonale, with severe decompensation often being precipitated by an acute intercurrent infection. However, cardiopulmonary arrest is an uncommon presentation. A male diagnosed with limb-girdle muscular dystrophy type 2A who presented with cardiopulmonary arrest that was precipitated by an upper respiratory tract infection is presented. The nocturnal application of noninvasive intermittent positive pressure ventilation with a bilevel positive airway pressure (Bi-PAP) device improved his symptoms and quality of life without resorting to more-invasive and more-restrictive forms of support. This report demonstrates an unusual presentation of limb-girdle muscular dystrophy and documents that nocturnal nasal administration of continuous airway pressure using the Bi-PAP device may be sufficient to maintain adequate ventilation in such patients.

Carbamazepine and valproic acid: effects on the serum lipids and liver functions in children.

We aimed to determine the effects of carbamazepine, which induces liver microsomal enzymes, and valproic acid on the serum lipids and liver function test results in epileptic children. Thirty-eight epileptic children (18 males, 20 females, mean age 8.6 +/- 3.9 years) were evaluated for serum lipids and liver function test results at the onset and the second and sixth months of antiepileptic therapy. The results of the children receiving carbamazepine (n = 31) and valproic acid (n = 7) were compared. In addition, the values obtained at different periods of treatment were compared within each group. The differences in the serum lipid levels and liver function test results of the children in the carbamazepine group and the valproic acid group were not statistically significant throughout the study. However, the total cholesterol, low-density lipoprotein, total cholesterol/high-density lipoprotein, and gamma glutamyl transferase levels were significantly increased in the carbamazepine group during treatment (P < 0.05) but not in the valproic acid group. Carbamazepine treatment alters the serum lipid profile of the children in such a way that it facilitates the development of atherosclerosis. Valproic acid does not alter the levels of the serum lipids.

Sturge-Weber syndrome without facial nevus.

An 11-month-old patient with Sturge-Weber syndrome with the absence of facial angioma and normal mental development is presented. Noncontrast computed tomography revealed left parieto-occipital atrophy with heavy gyriform calcifications. Axial T(2)-weighed magnetic resonance imaging confirmed the presence of low-signal areas corresponding to the gyral calcifications evident on computed tomography. Contrast-enhanced T(1)-weighted axial and coronal images exhibited high signals in the left parieto-occipital cortical and subcortical areas, representing angiomatous malformations. The clinical appearance and pathologic features of the reported patient were compared with those of similar patients described in published reports.

Landau-Kleffner syndrome: relation of clinical, EEG and Tc-99m-HMPAO brain SPECT findings and improvement in EEG after treatment.

Landau-Kleffner syndrome (LKS) is a rare childhood disorder characterized by acquired aphasia with seizures and electroencephalogram (EEG) abnormalities. Tc-99m-HMPAO SPECT was performed in three right handed children with LKS. A relative decrease in perfusion was found in the left temporal cortex of all three patients and also in the left frontoparietal cortex of one patient with hyperkinetic behavior. Degree of regional cerebral perfusion impairment did not correlate with the severity of clinical and EEG abnormalities. Asymmetrical temporoparietal perfusion appears characteristic of LKS. SPECT findings in LKS were evaluated as useful in elucidating the pathogenic features of the disorder in the brain.

Single photon emission computed tomography in adrenoleukodystrophy. A case report.

Adrenoleukodystrophy (ALD) is a genetic disorder leading to progressive dysfunction of the adrenal cortex and nervous system white matter. Accumulation of fatty acids in cerebral white matter results in some anatomical and functional changes which are detectable by imaging studies. Lately, single photon emission computed tomography (SPECT) has been suggested for evaluation of cerebral perfusion changes. In this report, magnetic resonance imaging (MRI) and SPECT neurolmaging of an eight-year-old boy with ALD are presented. SPECT revealed more extensive involvement than that demonstrated by MRI. Its role in early prediction of the extention of disease is stressed.

Mcardle's disease. A case report.

McArdle's disease is a hereditary, metabolic myopathy characterized by weakness and muscle cramps after exercise, appearing mostly in the second or third decade of life. Due to myophosphorylase deficiency in skeletal muscle, glycogen cannot be used and deposited in the sarcolemmal spaces, leading to lack of endurance to sustained work. The ischemic exercise test is a screening procedure for muscle energy disorders, and the diagnosis is confirmed by reduced enzyme activity in muscle biopsy. In this report, a family with one child having enzyme assay-proven McArdle's disease and two other children demonstrating a positive ischemic exercise test is presented.

Serum cortisol and prolactin levels in childhood paroxysmal disorders.

Postictal serum prolactin and cortisol levels were measured in 37 children having either epilepsy, febrile seizure or syncopal attack and in 37 normal controls. Blood samples were obtained within 1.5 h following the seizure episode. All serum levels were compared between each group and the control groups. Significantly higher (P < 0.005) prolactin levels (56.64 +/- 34.78 ng/mL) were found in the epileptic group, compared to the levels in children with febrile seizures (21.72 +/- 12.92 ng/mL), syncope attacks (13.88 +/- 5.27 ng/mL) and the control group (14.32 +/- 5.05 ng/mL). In contrast, serum cortisol levels were non-specifically elevated in children with epilepsy, febrile seizures and syncopal attacks. Cortisol secretion appears to be non-specifically elevated in all stressful events. Elevated prolactin levels may be helpful in differentiating epilepsy from febrile seizures and syncope.