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Symptom
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Target Concepts:
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Query: UMLS:C0028738 (
nystagmus
)
7,431
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A female, 2 years and 7 months of age, was admitted to the hospital with stupor and
nystagmus
following projectile vomiting. She had been prenatally diagnosed with trisomy 12p with a familial pericentric inversion of chromosome 12 originating from her mother. She manifested developmental delay and some dysmorphic features of the face and limbs compatible with the clinical features of trisomy 12p. Four-vessel cerebral angiography revealed severe stenosis and occlusion of the supraclinoid portion of the right and left internal carotid arteries with numerous collateral vessels in the vicinity of the occlusion. These features are consistent with
moyamoya
syndrome. This report presents the first case of
moyamoya
syndrome with trisomy 12p with a familial pericentric inversion of chromosome 12.
...
PMID:Moyamoya syndrome in a child with trisomy 12p syndrome. 1713 18
Epileptic
nystagmus
is a quick, repetitive, jerky movement of the eyeball caused by seizure activity, which is unaccompanied by other ictal phenomena. We report a case of
moyamoya
disease with epileptic
nystagmus
. A 23-year-old woman presented with a headache and transient hemiparesis on her left side. Magnetic resonance imaging showed no ischemic or hemorrhagic stroke lesions. Digital subtraction angiography confirmed stenosis of the terminal portion of the right internal carotid artery and the formation of
moyamoya
vessels on the right side.
123
I-N-isopropyl-iodoamphetamine (
123
I-IMP) single photon emission computed tomography (SPECT) showed decreased uptake in the right basal ganglia, frontal, and parietal regions. After electroencephalography (EEG) and a hyperventilation test were performed,
nystagmus
appeared and was accompanied with a declining level of consciousness. Ictal EEG during an attack showed no epileptiform discharge. Moreover, the patient sometimes experienced simultaneous upper limb-shaking and gelastic attacks. After superficial temporal artery to middle cerebral artery bypass surgery was performed on the right side, symptom frequency and duration gradually decreased. Decreased
123
I-IMP SPECT blood flow in the right frontal region is considered a mechanism that causes the onset of epileptic
nystagmus
. It is presumed that the attack was caused by an ischemic abnormality in the saccade region of the frontal eye field. Moreover, revascularization can effectively treat the symptoms of
moyamoya
disease.
...
PMID:Moyamoya disease with epileptic nystagmus: A case report. 3143 86
