PubMed Health⌕ Search

Biomedical subjects

I Saatci

Publications and source records attributed to I Saatci.

At least 19 recordsLinked to original sources
PubMed2002

D-glyceric aciduria in a six-month-old boy presenting with West syndrome and autistic behaviour.

D-Glyceric aciduria is a disease with a very heterogeneous group of symptoms, with D-glyceric acid excretion as the chief common characteristic. Findings described in previous patients include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. However, there are also asymptomatic patients with mild neurological impairment. A six-month-old boy was admitted to our clinic with the complaints of dullness to his environment, seizures and autistic behaviour. EEG revealed multifocal generalized epileptic activity in a hypsarrhythmia pattern. Organic acid analysis (GC-MS) in urine revealed increased glyceric acid excretion. Analysis of the optical form of glyceric acid by a polarimetric method supported the diagnosis of D-glyceric aciduria. MRI showed white matter lesions with cerebral atrophy, particularly in the frontotemporal regions, and reversible abnormalities in the mesencephalon, thalami and globus pallidium resolving after fructose restriction in the diet. To our knowledge, this is the first case report of a patient with D-glyceric aciduria who presented with West syndrome and autistic behaviour in whom serial MRI findings are also defined.

Autistic Disorder↗
PubMed2001

Ataxia and peripheral neuropathy: rare manifestations in Henoch-Schönlein purpura.

Henoch-Schönlein purpura (HSP) is a multisystemic vasculitis. Nervous system involvement is usually underestimated. Headaches, mental status changes and seizures are the most frequent neurologic symptoms. Ataxia and mononeuropathy are both very rare. We present an 11-year-old boy with HSP who suffered from ataxia during the initial presentation and peripheral neuropathy at the time of a relapse. Brainstem vasculitic involvement was shown by magnetic resonance imaging, while cranial tomography was normal. All the neurologic symptoms and signs resolved following bolus methylprednisolone administration. Ten months later he had a second course of HSP with skin and renal involvement. A percutaneous renal biopsy, which was performed due to persistent hematuria, revealed mesangial proliferation with IgA deposition. During that period the patient experienced pain and numbness in the right foot and leg; electromyography showed signs of mononeuritis multiplex involving the right posterior tibial nerve. The patient responded to steroid therapy.

Ataxia↗
PubMed2001

Magnetic resonance imaging characteristics of posterior scleritis mimicking choroidal mass.

We present imaging findings in a case of posterior scleritis, which may mimic tumoral mass lesion resulting in unnecessary enucleation. Magnetic resonance imaging was remarkable for a subretinal mass hypointense on T2 and hyperintense on T1 weighted images. A peripheral rim of hypointensity was noteworthy, suggestive of sclerouveal thickening. There was an ill-defined area of increased T2 signal intensity adjacent to globe at the site of nodular lesion implying an inflammatory process. A linear contrast enhancement was seen within the bulbus oculi which may represent detached retina by exudation or displaced retina due to thickened sclera and choroidal layers. The CSF space around the optic nerve was enlarged.

Adult↗
PubMed2001

Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopathy.

We report three infants with the diagnosis of molybdenum cofactor deficiency. The key findings leading to diagnosis were neonatal seizures unresponsive to treatment, craniofacial dysmorphic features, hyperexcitability, low blood uric acid levels, and neuroimaging findings. The parents were consanguineous in two of these patients. The diagnosis was established by the presence of low blood uric acid levels, positive urine sulfite reaction, quantitative aminoacid analysis, and high-voltage electrophoresis of the urine sample showing a typical increase of S-sulfo-L-cysteine. Skin fibroblast cultures confirmed the diagnosis. Magnetic resonance imaging findings were suggestive of encephalomalacia with cystic changes due to hypoxic-ischemic encephalopathy. We conclude that molybdenum cofactor deficiency must be included in the differential diagnosis of patients presenting with intractable seizures in the newborn period who have computed tomography and magnetic resonance imaging findings reminiscent of those of hypoxic-ischemic encephalopathy, and the urine sulfite dipstick test can be a part of the evaluation of these infants in neonatal intensive care units.

Coenzymes↗
PubMed2000

Gadodiamide as an alternative contrast medium in cerebral angiography in a patient with sensitivity to iodinated contrast medium.

The physical and pharmacological properties of gadolinium enable its chelates to be used as a contrast medium in digital subtraction angiography. We report the use of gadodiamide, a low-osmolar nonionic gadolinium chelate, for selective angiography in a patient with known sensitivity to iodinated contrast medium. No adverse effects were encountered during or after injection. Contrary to a single previous report of the use of these agents in cerebral angiography, contrast in the angiogram was not particularly good, especially in the distal circulation, but the angiogram was diagnostic.

Adult↗
PubMed2000

Reply

Explore the source record for details and available documents.

Journal Article↗
PubMed2000

A case of leukoencephalopathy with vanishing white matter.

A 6-year old Turkish boy with a recently defined entity: "leukoencephalopathy with vanishing white matter" is described. He was born to consanguinous parents. His psychomotor development was normal till he first presented with fever and generalized tonic-clonic seizures at the age of 2.5, followed by rapid motor and mental deterioration. Decerebrate posture and marked spasticity subsequently developed. The initial MRI examination showed diffuse involvement of white matter, including subcortical U-fibers, with signal intensity parallel to CSF on all sequences. The white matter appeared swollen. The ventricles were slightly enlarged and there was cavum septi pellucidi et vergae. The posterior crus of the internal capsule, external and extreme capsules were affected. Cerebellar hemispheres and vermis showed atrophy. The involvement pattern of brainstem was noteworthy in that pontine tegmentum and cruri cerebri were affected. Follow-up MRI obtained after three years did not show any interval change. Brain biopsy showed thinned cortex with relatively preserved cortical layering and neuronal structure. There was rarefaction of the white matter with cystic degeneration. Fibrillary gliosis and increased number of oligodendroglial cells were observed within the cerebral white matter.

Biopsy↗
PubMed2000

Endovascular coil embolization of residual or recurrent aneurysms after surgical clipping.

PURPOSE: Treatment of residual or recurrent aneurysms after surgical clipping is a challenge and most surgeons prefer to avoid a second surgical attempt. We present treatment of 4 residual or recurrent aneurysms after surgical clipping with electrolytically detachable coils. MATERIAL AND METHODS: In 3 of 4 patients, recurrent aneurysms were diagnosed with angiography 2 months, 5 years and 14 years after surgery, although the domes of the aneurysms were opened following clipping during the surgery. In the 4th patient, an early postoperative angiogram revealed filling of a residual aneurysm secondary to the incomplete neck clipping. Guglielmi detachable coils were used to occlude the residual or recurrent aneurysm. RESULTS: The endovascular approach was successful in all patients and the control angiograms showed complete obliteration of the aneurysms with no recanalization. CONCLUSION: The endovascular approach is a good treatment option for patients in whom complete obliteration of the aneurysm cannot be achieved by surgical clipping. Opening of the aneurysm sac after clipping does not necessarily preclude aneurysm regrowth from a neck remnant proximal to the clip.

Adult↗
PubMed2000

Comparison of MR sequences in early cerebral infarction at 0.5 T.

PURPOSE: To compare the diagnostic values of fluid-attenuated inversion recovery (FLAIR) and gradient spin-echo (GRASE) with those of conventional spin-echo (SE) and fast SE T2-weighted sequences in the evaluation of acute cerebrovascular lesions at 0.5 T. MATERIAL AND METHODS: Twenty-two consecutive patients with the clinical diagnosis of acute cerebrovascular accident were examined by MR imaging within the first 48 h of ictus. MR examination included 5-mm axial conventional SE and turbo SE (TSE) T2-weighted, dual-echo GRASE and FLAIR sequences. The patients also had pre- and postcontrast T1-weighted axial images. Two examiners evaluated the images and scored the conspicuity of the acute lesions. RESULTS: Regardless of location, FLAIR provided the best lesion conspicuity in the detection of acute infarcts, followed by the GRASE sequence. In the posterior fossa, TSE and SE demonstrated the lesions better than GRASE and FLAIR techniques. In the detection of hemorrhagic elements within the ischemic region, TSE demonstrated statistically significant superiority over other sequences. CONCLUSION: In the detection of acute ischemic lesions in locations other than the posterior fossa, FLAIR provided the best lesion conspicuity among four T2-weighted sequences, including SE, TSE, GRASE and FLAIR. However, for the posterior fossa examination, preference of SE or TSE T2-weighted sequences is suggested.

Acute Disease↗
PubMed2000

Leigh syndrome in a 3-year-old boy with unusual brain MR imaging and pathologic findings.

We report unusual MR serial imaging and electron microscopy findings in a 3-year-old boy who had Leigh syndrome with cytochrome-c oxidase (cox) deficiency. The MR imaging findings included periventricular white matter involvement, posteroanterior progression, and extension through the corpus callosum and internal capsule; however, no basal ganglia or brain stem abnormality was found, which was suggestive of leukodystrophy. The most noteworthy findings were the cystic foci with contrast enhancement in the affected white matter.

Child, Preschool↗
PubMed2000

Parietal lipoma associated with cortical dysplasia and abnormal vasculature: case report and review of the literature.

We present the case of an unusually located intracranial lipoma in a 17-year-old patient with partial epilepsy who was being controlled with medication. The lipoma was located deep in the left sylvian fissure, in the inferior parietal lobule, associated with cortical dysplasia of the surrounding supramarginal gyrus. Abnormal vasculature was detected adjacent to and within the adipose mass. The findings of the imaging studies that included CT, MR imaging, and MR angiography, are described along with a brief review of the literature.

Adolescent↗
PubMed1999

Cerebellar and basal ganglion involvement in Langerhans cell histiocytosis.

Langerhans cell histiocytosis (LCH) is a disease of unknown cause characterised by proliferation of histiocytic granulomas in tissues; the primary cerebral manifestation is diabetes insipidus caused by hypothalamic infiltration. We present a patient in whom, except for the absence of high signal on T1 weighting in the posterior pituitary, consistent with central diabetes insipidus, MRI showed no evidence of hypothalamic involvement by histiocytosis, despite the long duration of the disease. However, there was bilateral, symmetrical involvement of the cerebellum and globus pallidus in addition to a calvarial lesion. High signal in the cerebellar white matter on T2-weighted images may represent demyelination, gliosis and cell loss, as previously reported on pathologic examination.

Basal Ganglia Diseases↗
PubMed1999

A case of relapsing acute disseminated encephalomyelitis with high dose corticosteroid treatment.

We report a 16-month-old boy with acute disseminated encephalomyelitis (ADEM) who had an early relapse despite prompt treatment with high dose methylprednisolone. The second episode responded to intravenous immunoglobulin (IVIg). This case illustrates the probability of relapses or treatment failures in ADEM after steroid treatment, and the use of alternative drugs.

Encephalomyelitis, Acute Disseminated↗
PubMed1998

An atretic parietal cephalocele associated with multiple intracranial and eye anomalies.

We present the cranial MRI findings in a 4-month-old girl with an atretic parietal cephalocele associated with multiple cerebral and ocular anomalies including lobar holoprosencephaly, a Dandy-Walker malformation, agenesis of the corpus callosum, grey-matter heterotopia, extra-axial cysts in various locations, bilateral microphthalmia and a retroocular cyst.

Abnormalities, Multiple↗
PubMed1998

Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases.

Twelve patients with early infancy onset megalencephaly and leukodystrophy with a mild clinical course are reported. The neuroradiological, clinical, and genetic aspects of this recently recognized familial leukodystrophy syndrome were reviewed. Five were affected siblings, and all patients had consanguineous parents. Macrocephaly, a slowly progressive delay in motor development and mild mental deterioration constitute the clinical triad of the disease, showing characteristic age-related onset. The clinical findings outlined remarkably slight functional deterioration despite severe lesions on magnetic resonance imaging (MRI), especially in the initial period. Characteristically, mental function is preserved for years after onset of the motor deficit. The MRI lesions do not reflect the progress of disease. The disease probably has an autosomal recessive mode of inheritance even though no metabolic defect has been detected to date. In a more severe variant of the mentioned disease, there is more progressive and severe neurological dysfunction, including ataxia and spastic quadriparesis, leading to an inability to walk independently after 10 years of age. In mild variants, however, disease severity varies from macrocephaly with near-normal pyschomotor development to mild motor and/or mental dysfunction. Seizures were observed in both types but response to drugs was good. The 12 patients reported here confirm the specific and distinguishing clinical and radiological features of the previously reported 51 cases with this new syndrome, while adding some information regarding identification of the disease.

Brain↗
PubMed1998

Neurofibromatosis type I and unilateral ophthalmic artery occlusion.

Etiological investigation of a 15-year-old boy with left ophthalmic artery occlusion led us to a diagnosis of neurofibromatosis type I as there were numerous large cafe-au-lait spots, axillary freckling, and brain MRI changes consistent with a hamartoma. In light of the present case, ophthalmic artery occlusion may be a rare feature of neurofibromatosis type I besides more commonly described cerebrovascular changes.

Adolescent↗