We studied 25 patients with sickle cell disease (15 with HbSS; 8 with HbSC and 2 with HbS beta degree) using neurological examination as a marker of overt and computed tomographic (CT) scan as a marker of covert neurological damage. Of the 25 patients, 5 (20%) had evidence of cerebral infarcts on CT scan, but only 4 of these 5 patients had neurological signs. Neurological problems were only see...

np-c is a severe, progressive and irreversible neurovisceral disease, which is invariably fatal. np-c is a rare disease, with an estimated minimal incidence of 1/120,000 live births . np-c is caused by mutations in npc1 (~95% of patients) or npc2 genes .defective npc1 and npc2 proteins result in a disruption of lipid metabolism . one of special features of this disorder is heterogeneous manifes...

it has been estimated that more than 1.7 million individuals suffer a traumatic brain injury (tbi) each year. tbi causes secondary biochemical and metabolic changes which contribute to subsequent tissue damage and associated neuronal cell death. two early and delayed events occur after tbi, which results in neurological deficits. primary injury events include the mechanical damage that occur at...

superficial siderosis (ss) is a rare disease which affects people in all ages and both sexes, but three times more in men. pathological etiology is deposition of hemosiderin (a product of the breakdown of blood) in leptomeninges, subpial layer, ependymal surface and other parts of central nervous system (cns) and typically leads to neurological dysfunction and progressive irreversible signs and...

how to cite this article: karimzadeh p. juvenile type of niemann-pick type c disease and our study in iranian npc patients. iran j child neurol. 201 5 autumn;9:4(suppl.1): 5-6. pls see pdf.

Case presentation: Male patient, 7 years old, first child of a non-consanguineous couple, previously healthy and with normal neuropsychomotor development, presented recurrent nausea vomiting associated facial paresthesia. Neurological examination was initially normal. 3 months after the onset condition, he started daily myoclonic seizures hospitalized for investigation. During clinical investig...

Patients and methods We evaluated forty consecutive ATTR patients with Glu89Gln mutation, assessing cardiac and peripheral polyneuropathy involvement 18 male, 22 female at a mean age of 57.6±6,7 years. A clinical examination, 12–channel ECG, conventional 2D, Doppler and tissue Doppler echocardiography were performed. A comprehensive clinical neurological assessment was performed, defining the s...

THERE have been many recent reviews of the neurological complications of Hodgkin's disease (Brit. Med. J., 1965; Hutchinson, Leonard, Maudsley and Yates, 1958; Haynal and Regli, 1964). In most of the reported cases, the diagnosis of Hodgkin's disease was established before the appearance of neurological involvement. In the case reported below the mode of presentation was neurological, and the t...

In this paper, at first I noted the way how to pick up the neuropsychological signs and symptoms during routine neurological examination, and their diagnostic power. Second, I presented the clinical approach for dementia. Medical history should be obtained from both patients themselves and their caregivers. Examination of daily living activities and behavioral and psychological symptoms are nec...

AIM To assess the predictive value of normal, abnormal, or absent general movements in high-risk preterm infants for the later neurological development. METHODS The study involved 120 high-risk preterm infants (gestational age, < or =37 weeks) having at least three or more antenatal, perinatal, or neonatal risk factors for impaired neurological development, and 112 age-matched controls. The m...