A 9-year follow-up of a girl with pyridoxine (vitamin B6)-dependent seizures: magnetic resonance spectroscopy findings.

Being an extremely rare condition makes the diagnosis of pyridoxine-dependent seizures (PDS) difficult. Early diagnosis of PDS is very important to prevent unwanted clinical outcomes. Elevated levels of glutamate and decreased levels of y-aminobutyric acid (GABA) in the frontal and parietal cortices are detected in this disorder. Here we present an 18 year old girl with PDS, who was reported 9 years ago with Magnetic Resonance Spectroscopy (MRS) findings. Present and past MRS findings showed a decrease in N-acetyl-aspartate-to creatine ratio on MRS. In this case it is surprising that neuronal damage has been preceded despite the administration of accurate treatment. That can be because of delay in treatment and/or under treatment.

Diffuse edema and bilateral massive pleural effusion as the presentation of systemic lupus erythematosus.

A rare case of systemic lupus erythematosus (SLE), with massive bilateral pleural effusions and generalized edema as the first manifestations, is reported. The patient was a previously healthy 13-year-old boy. He presented with a history of fever, lack of appetite, gradually increasing fatigue, cough, diffuse edema, and moderate dyspnea. He responded well to corticosteroids with resolution of the pleural effusions, and edema. SLE should always be kept in mind in cases of massive pleural effusions and/or diffuse edema, even in the absence of other clinical manifestations of the disease.

Congenital brucellosis: case report.

A 6-hour-old infant was admitted with severe respiratory distress and hepatosplenomegaly. Her mother had arthralgia for 4 weeks in the 7/8th month of pregnancy and the infant was born at 31 weeks. Brucella spp was detected in blood culture and serology in mother and infant, supporting the diagnosis of brucellosis with presumed transplacental transmission.

Hanhart syndrome.

We report on a male infant with Hanhart Syndrome. It is classified in "oromandibular limb hypogenesis syndromes" which are a group of rare conditions involving congenital malformations of tongue, mandible, and limbs.

Haemophilus aphrophilus brain abscess in the first decade.

This report presents a case of brain abscess due to Haemophilus aphrophilus in a six-year old boy. He was admitted to our hospital suffering from left-sided weakness. The initial radiological diagnosis was an intracranial abscess. Purulent material was obtained by puncturing the subcortical lesion and the sample was cultured on conventional media. H. aphrophilus was isolated in pure culture, identified according to conventional methods and confirmed by Becton Dickinson Laboratory (BBL) crystal system. After surgical drainage and eight weeks of antibiotic therapy, the neurological findings improved. The presented case is an example of H. aphriphilus causing brain abscess in the first decade without cardiac predisposition and with good outcome.

Head circumference measurement of urban children aged between 6 and 12 in Malatya, Turkey.

Head circumference (HC) is one of the most significant findings in physical examination, especially in the evaluation of the development and early diagnosis of neurological disorders in children. In the standard charts for developmental evaluation of Turkish children, there is no HC reference values for children over 6 years of age. Since the HC standards show differences among races and generations, many researchers have obtained normal values for their own populations, and recommend periodic reevaluation of these standards. In this study, the HC of 1826 healthy children (945 male, 881 female) aged between 6 and 12 years was measured in order to establish the Turkish standards. The sample represented various socioeconomic levels in the city of Malatya, Turkey. The study was conducted in ten schools and measurements were done twice by a pediatrician and the mean was recorded. Charts and graphs for boys and girls were prepared separately. Results were compared to the values of other populations. HC values of Turkish children were similar to that of Irish children. The data obtained in this study may replace the Nelhaus criteria to be used in clinics. However, a more widespread study should be carried out by including children from different regions of Turkey.

Cavernous hemangioma in a child presenting with hemichorea: response to pimozide.

The case of a 9-year-old boy with hemichorea due to cavernous hemangioma in the left caudate nucleus is presented. To our knowledge, only two children have been reported with hemichorea associated with cavernous hemangioma. Hemichorea in our patient responded to pimozide, a neuroleptic that blocks central nervous system dopaminergic receptors.

Normative values of craniofacial measurements in idiopathic benign macrocephalic children.

OBJECTIVE: To determine normal standard values at each age for head circumference; inner canthal distance; outer canthal distance; near interpupillary distance; distant [far] interpupillary distance; canthal index; and circumference-interorbital index specific for the age, sex, and race in 7- to 16-year-old idiopathic benign macrocephalic male and female children. METHODS: The measurements of head circumference were obtained in 8736 children (4591 boys and 4145 girls) in the city center of Malatya. From these, macrocephalic children (boys = 103, girls = 93) were chosen and invited to our clinic for detailed examination. Mean values for each parameter were obtained at each age from 7 to 16 years. RESULTS: The mean age for male and female children were 11.87 +/- 2.87 and 11.72 +/- 2.75 years, respectively. The overall mean values for head circumference, inner canthal distance, outer canthal distance, near interpupillary distance, distant interpupillary distance, canthal index and circumference-interorbital index in boys were found to be 57.43 +/- 1.46 cm, 31.90 +/- 2.41 mm, 89.29 +/- 4.34 mm, 58.79 +/- 2.97 mm, 62.10 +/- 3.23 mm, 35.73 +/- 2.24, and 5.56 +/- 0.44, respectively. In girls, these values were 56.57 +/- 1.24 cm, 31.45 +/- 2.65 mm, 87.71 +/- 4.11 mm, 58.16 +/- 3.46 mm, 61.26 +/- 3.66 mm, 35.84 +/- 2.31, and 5.56 +/- 0.43, respectively. CONCLUSION: Normal values of craniofacial measurements for idiopathic benign macrocephalic healthy children are useful in early identification of some craniofacial syndromes, congenital or posttraumatic telecanthus, epicanthus, and hypo-hypertelorism and of planning surgical intervention. We suggest that the comparison of craniofacial dimensions of macrocephalic healthy children must be performed with normal standards specific for age as well as sex and race.

Supratentorial hydatid cyst with cerebellar signs: a rare case of diaschisis.

BACKGROUND: Intracranial hydatid disease has a distinct predominance in the pediatric age group and still causes serious problems in endemic areas. CASE REPORT: A 7-year-old girl admitted with a 3-month history of illness involving the main symptoms of ataxic gait, apraxia, headache, and tremor and with positive cerebellar signs and papilledema is presented. RESULTS: Cranial computerized tomography and magnetic resonance imaging revealed a right temporoparietal spherical lesion measuring 50 x 60 x 80 mm, which had a significant mass effect. A preoperative diagnosis of intracranial hydatid cyst was confirmed during the surgical procedure, which allowed removal of the cyst intact. The postoperative course was uneventful. CONCLUSIONS: The aim of this presentation is to emphasize the necessity for considering diaschisis--inhibition of function produced by a focal disturbance in a portion of the brain at some distance from the original site of injury, but anatomically connected with it through fiber tracts. We believe that this case, with a mass lesion in a temporoparietal location and definite clinical manifestations with plentiful cerebellar signs, is a good example of this rare phenomenon.

Intranasal midazolam for prolonged convulsive seizures.

In order to determine the efficiency of intranasal midazolam in prolonged convulsive episodes, we conducted a prospective study in children with various types of seizures. Nine patients (six boys, three girls; age range 6 months to 9 years) with prolonged convulsions lasting more than 10 min were treated with intranasal midazolam, 0.3 mg/kg. The success rate was 100% with only one case requiring a second dose. Estimated duration of seizures was 12-30 min (mean 18.6) while mean time elapsed until cessation of seizures was 139.6 s (range 60-480). No significant adverse effects were noted except for one patient who had seizures secondary to serious CNS infection and respiratory depression after intranasal midazolam.

Autonomic nervous system functions in obese children.

Childhood obesity is a complex syndrome, probably due to the multiplicity of contributing factors, contradictory literature information about etiology, prognosis, prevention and treatment. In the recent reports, autonomic nervous system (ANS) dysfunction has been documented in adult obesity. Autonomic nervous system functions in obese children are not clear. This study was planned to investigate autonomic nervous system function in childhood (7-13 years of age) obesity. Study and control groups consisted of 33 simple obese (23 boys and ten girls, mean age 9.5+/-1.4 years) and 30 healthy children (18 boys and 12 girls, mean age 10.1+/-1.8 years), respectively. Four non-invasive autonomic nervous system function tests (Orthostatic test, Valsalva ratio, 30/15 ratio, Heart rate responses to deep breathing) and general ophthalmic examination were performed on both groups. The difference between the obese and control groups was found statistically significant in Valsalva ratio, 30/15 ratio and Heart rate responses to deep breathing (P<0.025), and insignificant in Orthostatic test (P>0.05). Ophthalmic examinations were normal. The result of these tests suggested normal activity of sympathetic, and hypoactivity of parasympathetic nervous system, implying parasympathetic nervous system dysfunction as a risk factor or associated finding in childhood obesity.

Autonomic nervous system function in childhood migraine.

BACKGROUND: Although the pathogenesis of migraine is controversial, autonomic nervous system (ANS) dysfunction has been reported in patients with adult migraine in recent years. The present study was planned to investigate ANS function in childhood migraine. METHODS: The migraine and control groups consisted of 25 migraineur and 30 healthy children, respectively. Orthostatic test, sustained handgrip, Valsalva ratio, 30/15 ratio and heart rate responses to deep breathing were used as non-invasive ANS function tests in both groups. RESULTS: In the orthostatic test, systolic (SBP) and diastolic blood pressures (DBP) were higher in the upright than the supine position in the migraine group, but were higher in the supine than upright position in the control group. In the sustained handgrip test, the mean difference in SBP was higher in the migraine than the control group (P = 0.0278), but there was no significant difference in DBP between migraine and control groups (P = 0.107). The Valsalva ratio was higher in the migraine than the control group (P = 0.0002), as was the 30/15 ratio (P = 0.0108). Heart rate responses to deep breathing were not different between the migraine and control groups (P = 0.749). CONCLUSIONS: Our results demonstrate ANS dysfunction, with hyperactivity of both the sympathetic and parasympathetic nervous system, in children with migraine.

Leukoencephalopathy with a mild clinical course: a case report.

Infantile-onset leukoencephalopathy of van der Knaap type is manifested by initially normal or near normal neurological findings despite infantile-onset megalencephaly and magnetic resonance imaging evidence of severe white matter affection. Until this entity was recently described, these cases were usually presented under the heading of atypical variants of Alexander disease. To date 63 individuals have been reported in English literature. We report a four-year-old boy presented in the first months of life with progressive megalencephaly, delay in walking, clumsiness, convulsions and magnetic resonance imaging evidence of diffuse swelling of white matter, cystic cavitations in frontal, temporal and parietal lobes.

Ectopic thymic tissue: a cause of emphysema in infants.

Ectopic thymic tissue can present a diagnostic dilemma when it is located in the posterior mediastinum. The diagnosis can be made by awareness of it and by use of computed tomography (CT) and magnetic resonance imaging (MRI). Rarely, ectopic thymus are reported to cause airway obstruction. In infants ectopic thymic tissue should also be considered in the differential diagnosis of secondary pneumonias and emphysema especially located in the upper lung zones.