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T Kansu

Publications and source records attributed to T Kansu.

At least 19 recordsLinked to original sources
PubMed2005

Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3.

OBJECTIVE: To review the neurologic, neuroradiologic, and electrophysiologic features of autosomal recessive horizontal gaze palsy and progressive scoliosis (HGPPS), a syndrome caused by mutation of the ROBO3 gene on chromosome 11 and associated with defective decussation of certain brainstem neuronal systems. METHODS: The authors examined 11 individuals with HGPPS from five genotyped families with HGPPS. Eight individuals had brain MRI, and six had electrophysiologic studies. RESULTS: Horizontal gaze palsy was fully penetrant, present at birth, and total or almost total in all affected individuals. Convergence, ocular alignment, congenital nystagmus, and vertical smooth pursuit defects were variable between individuals. All patients developed progressive scoliosis during early childhood. All appropriately studied patients had hypoplasia of the pons and cerebellar peduncles with both anterior and posterior midline clefts of the pons and medulla and electrophysiologic evidence of ipsilateral corticospinal and dorsal column-medial lemniscus tract innervation. Heterozygotes were unaffected. CONCLUSIONS: The major clinical characteristics of horizontal gaze palsy and progressive scoliosis were congenital horizontal gaze palsy and progressive scoliosis with some variability in both ocular motility and degree of scoliosis. The syndrome also includes a distinctive brainstem malformation and defective crossing of some brainstem neuronal pathways.

Adolescent↗
PubMed2005

The sensitivity and specificity of 0.5% apraclonidine in the diagnosis of oculosympathetic paresis.

AIMS: To evaluate the sensitivity and specificity of 0.5% apraclonidine test in the diagnosis of oculosympathetic paresis (OSP). METHOD: Apraclonidine (0.5%) was administered to 31 eyes, nine with a diagnosis of Horner syndrome (HS), 22 with bilateral OSP caused by diabetes, and to 54 control eyes. All were confirmed with the cocaine test. The effects on pupil diameter and upper eyelid level were observed 1 hour later. RESULTS: Apraclonidine caused a mean dilation of 2.04 mm (range 1--4.5) (p<0.001) in the pupils with OSP and it caused pupillary constriction in the control eyes with a mean change of -0.14 mm (range 0.5 to --1) (p<0.05). It caused reversal of anisocoria in all HS cases. Its effects on both pupil diameters and upper lid levels differed significantly between the groups (p<0.001). The mean elevation in the upper lid was 1.75 mm (range 1--4) in the OSP group (p<0.001) and 0.61 mm (range 0--3) in the control group (p<0.001). CONCLUSION: The effect of the apraclonidine (0.5%) test on the pupil diameter was diagnostic for OSP and had at least the same sensitivity and specificity as the cocaine test for the diagnosis of OSP.

Adrenergic alpha-Agonists↗
PubMed2001

Visual recovery patterns in children with Leber's hereditary optic neuropathy.

Three patients with Leber's hereditary optic neuropathy (LHON) showed spontaneous improvement in visual acuities after months of legal blindness. Two male patients with bilateral subacute visual loss were 14 years of age at presentation. The first male patient had a mitochondrial DNA mutation at nucleotide position 11778. The second male patient was found to be negative for the designated primary mutations (11778, 14484, 3460) and two of the secondary mutations (15257, 9804). The third patient was a 20-year-old female who presented with bilateral optic atrophy. She had been diagnosed as LHON and was found positive for the 3460 mutation when she was 15. These patients' pattern of visual recovery by developing small islands of normal vision within a central scotoma is characteristic in such rare cases of LHON.

Adolescent↗
PubMed2001

Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population.

PURPOSE: To define the prevalence of a panel of mitochondrial DNA (mtDNA) mutations associated with Leber's hereditary optic neuropathy (LHON) in the Turkish LHON population. LHON-associated mtDNA mutations have been found in LHON patients from around the world, but the Turkish LHON population has not been studied. METHODS: Thirty-two Turkish patients were defined clinically as having LHON on the basis of painless, subacute, bilateral optic neuropathy and the exclusion of other causes of subacute optic neuropathy. mtDNA was extracted from blood of the 32 probands and assayed for a panel of primary and secondary LHON-associated mtDNA mutations by polymerase chain reaction (PCR)-based methods. We studied three well-known LHON-associated primary mutations (at nucleotide positions 11778, 3460 and 14484) and one common secondary mutation (at nucleotide 15257) in all 32 probands. In addition to these mutations, 18 of the 32 probands were tested for the Complex IV, COX III gene, LHON associated 9804 and 9438 mutations and secondary LHON mutations at nucleotide positions 3394, 4160, 4216, 4917, 5244, 7444, 7706, 13708, 13730 and 15812. RESULTS: Among the 32 probands tested for four common LHON mutations, 3 carried the 14484 mutation, 1 carried the 11778 mutation, 1 carried the 3460 mutation and 1 carried the 15257 mutation. Among the 18 LHON patients who tested for additional mutations, 1 proband harboured the 9804 mutation and 4 carried the secondary mutations at nucleotide positions 4216, 4917 and 13708. CONCLUSION: The results of mtDNA analysis of the Turkish LHON patients appear to be different from those of previous reports.

Adolescent↗
PubMed2001

Granulomatous hypophysitis and bilateral optic neuropathy.

A 53-year-old woman with symptoms of hypopituitarism and ophthalmoplegia was diagnosed as having idiopathic granulomatous hypophysitis and later developed bilateral optic neuritis. She responded well to steroid treatment. Granulomatous hypophysitis is a rare entity, and this is the first reported case associated with optic neuritis.

Female↗
PubMed2001

Optic neuropathy in primary antiphospholipid syndrome in childhood.

Neurologic symptoms associated with antiphospholipid antibodies in children include thrombotic events, unilateral movement disorders, or migraine. We present a 7-year-old girl with bilateral optic neuropathy, cerebral white-matter lesions, and antiphospholipid IgM that responded to prednisone and tended to relapse when it was stopped. Remission was obtained under maintenance corticosteroid therapy, and the antiphospholipid antibodies disappeared. This case suggests a role for antiphospholipid antibodies in the pathogenesis of optic neuropathy in childhood.

Antiphospholipid Syndrome↗
PubMed2000

Isolated inferior rectus palsy as a result of paramedian thalamopeduncular infarction.

The authors present the cases of two patients with isolated inferior rectus muscle paresis presumed to be caused by paramedian thalamopeduncular infarction that involved supranuclear descending pathways, just before the inferior rectus subnucleus in one patient, and just before subnucleus or fascicular fibers in the other patient. Both patients had no other associated neurologic dysfunction. The lesions that cause isolated inferior rectus palsy in these patients are documented by magnetic resonance findings. Although vascular ischemic lesions as the cause of isolated inferior rectus palsy were reported previously, to the authors' knowledge, it has not been demonstrated radiologically.

Aspirin↗
PubMed2000

Isolated sixth nerve palsy from pontine infarct.

Isolated sixth nerve palsy associated with pontine infarct is very rare due to close anatomic organization of the structures. A 62-year-old woman, who complained of diplopia, had a diagnosis of sixth nerve palsy. Ophthalmological examination revealed 30 PD left esotropia in primary position with limited abduction of the left eye. Neurologic examination was normal. MR showed a lacunar infarct in the pons consistent with a fascicular lesion. Cerebral angiography was normal. Pontine infarcts causing fascicular lesions should be kept in mind in isolated sixth nerve palsies.

Abducens Nerve Diseases↗
PubMed1995

Horner's syndrome due to jugular venous ectasia.

Horner's syndrome may be caused by a lesion anywhere along the three-neuron pathway from the hypothalamus to the eye. This syndrome has been reported secondary to numerous causes to date. In this paper, we describe an extremely rare case of Horner's syndrome due to jugular venous extasia demonstrated by computed tomography and intravenous digital subtraction angiography.

Cerebral Angiography↗