Isolated nuclear oculomotor nerve syndrome due to mesencephalic hematoma

Unilateral third nerve palsy with bilateral superior rectus paresis and bilateral ptosis is a typical condition for nuclear oculomotor nerve syndrome. We report a case of nuclear oculomotor nerve syndrome due to midbrain hemorrhage, as a rare cause. A 73-year-old man presented with an abrupt onset of double vision and difficulty opening his eyes. He had uncontrolled hypertension in his history. Neurological examination revealed right oculomotor palsy with impairment of bilateral upward gaze and bilateral ptosis. MRI showed a mesencephalic area of increased T1 signal and decreased T2 signal consistent with a subacute hematoma. It is emphasized that isolated mesencephalic hemorrhage may be the cause of the nuclear oculomotor nerve syndrome without associated neurological signs.     

Postoperative bilateral brachial plexopathy mimicking the "man-in-the-barrel" syndrome

We describe a patient with a postoperative bilateral upper limb palsy due to involvement of the upper trunk of the brachial plexus. The weakness distribution (bilateral upper limb paresis without leg involvement) reminded of the classic "man-in-the-barrel" syndrome, which is usually due to bilateral watershed infarcts of the brain in relation with severe hypotension. Bilateral postoperative brachial plexopathies are very uncommon and should be distinguished from the "man-in-the-barrel" syndrome of "central" origin, since the former bears a much better prognosis and management is different. The mechanisms of plexus damage during surgery, as well as the different etiologies of the "man-in-the-barrel" syndrome, are discussed.     

Cardio-facio-cutaneous syndrome and moyamoya syndrome

We reported a patient with cardio-facio-cutaneous (CFC) syndrome associated with moyamoya syndrome. The patient was referred at 6 years 5 months with left hemiplegia and right-sided eye deviation. He had an apparently short stature, macrocephaly, left ptosis and atopic skin, and was odd looking. He exhibited an incomplete right bundle branch block on electrocardiogram and an atrial septal defect on ultrasound cardiography. He was diagnosed as having CFC syndrome. Head magnetic resonance imaging showed a flow void in the bilateral basal ganglia, but did not show any ischemic changes. Magnetic resonance angiography showed bilateral stenosis with an internal carotid artery at the Willis artery ring level and bilateral moyamoya. Contrast angiography demonstrated occlusion of both middle cerebral arteries. Cerebrovascular anomalies have not previously been reported in CFC syndrome. This is the first case of CFC syndrome associated with moyamoya syndrome.     

Duane's syndrome and giant parietal foramina

We report a 14-month-old male with Duane's syndrome and bilateral parietal calvarial defects. This child had no other known medical conditions. The Duane's syndrome involved the left eye. Imaging was demonstrative of bilateral enlarged parietal foramina. We believe this to be the first reported case of simultaneous Duane's syndrome and bilateral giant parietal foramina. Further case reports of our current association are required to determine if these simultaneous findings are spurious or a low-frequency association.     

Bilateral anterior opercular (Foix–Chavany–Marie) syndrome

The bilateral anterior opercular (Foix–Chavany–Marie) syndrome is a rare condition most commonly encountered after bilateral middle cerebral artery stroke. Clinically, the syndrome is characterised by a loss of voluntary control of the facio-pharyngeo-glosso-masticatory muscles, while reflex movements and limb strength are preserved. We report the clinical presentation of a patient with anterior biopercular syndrome due to a bilateral middle cerebral artery stroke.     

Reversible posterior leukoencephalopathy and Adie's pupil after measles vaccination

Reversible posterior leukoencephalopathy syndrome is an increasingly recognized disorder with typical radiologic findings of bilateral gray- and white-matter abnormalities in the posterior regions of the cerebral hemispheres. The majority of patients with reversible posterior leukoencephalopathy syndrome are adults, and it is rare in children. Previously reported associations of reversible posterior leukoencephalopathy syndrome include hypertension, vasculitis, nephrotic syndrome, severe hypercalcemia, hemolytic uremic syndrome, eclampsia, renal failure, and use of immunosuppressive drugs. Adie's pupil is described as the presence of a large unilateral or bilateral tonic pupil related to virus infections or trauma. In this article, we describe a case of reversible posterior leukoencephalopathy and Adie's pupil association that occurred after measles vaccination. To our knowledge, this association has not been reported.     

Wernekink commissure syndrome: a rare midbrain syndrome

Wernekink commissure syndrome is a rare midbrain syndrome, which selectively destroys the Wernekink commissure involving the decussation of superior cerebellar peduncle in midbrain. This syndrome may display a clinical picture: bilateral cerebellar ataxia, eye movement disorders, and palatal tremor. We present two cases of the Wernekink commissure syndrome with acute onset of bilateral cerebellar dysfunction confirmed by magnetic resonance imaging. One patient presented internuclear ophthalmoplegia, but neither showed palatal tremor. It is notable that the bilateral cerebellar dysfunction may be ascribed to midbrain lesion involving the Wernekink commissure, and it may be the sole manifestation of the midbrain lesion.     

Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation

Leigh syndrome, which is a common phenotype of pediatric mitochondrial disease, is a progressive neurodegenerative disease. The typical neuroimaging findings of Leigh syndrome include bilateral symmetric lesions in the basal ganglia and/or the brainstem. However, there are a few reports on spinal cord involvement in patients with Leigh syndrome. In the present case, magnetic resonance imaging (MRI) obtained during infancy revealed symmetric lesions in the substantia nigra of a patient with Leigh syndrome with an NDUFA1 mutation; lesions of the bilateral putamen and brainstem were subsequently observed. Additionally, our patient presented large and extended spinal cord lesions. Therefore, this case is suggesting that we should consider the occurrence of spinal cord lesions as an atypical finding in Leigh syndrome.     

A case of brain stem infarction with bilateral hearing impairment and tinnitus at the onset

We reported a 49-year-old male with brain stem infarction who had bilateral hearing impairment and tinnitus at the onset and subsequently developed various neurological symptoms, including bilateral lateral inferior pontine syndrome, one and a half syndrome and upward gaze palsy. Although CT scan failed to reveal any abnormalities initially, MRI revealed symmetrical foci bilaterally from the lateral inferior pons to the middle cerebellar peduncle, as well as in the paramedian portion of the mid-pons. Cerebral angiography: The left vertebral artery (VA) occluded at the 4th segment. The right VA showed severe stenosis at the 4th segment. The basilar artery (BA) was found to be occluded in the lower 1/3 below the clivus. Furthermore, CAG demonstrated upper portion of the BA, bilateral superior cerebellar artery and posterior cerebral artery via the posterior communicating artery, but the bilateral anterior inferior cerebellar arteries (AICAs) were absent or occluded. Neuroradiological findings suggested ischemia in the bilateral AICA and the middle portion of the BA. Bilateral hearing impairment rarely accompanies cerebrovascular disorders. This case of bilateral hearing impairment, tinnitus at the onset, followed by bilateral lateral inferior pontine syndrome was considered to be an extremely rare pathological condition.     

Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16

Polymicrogyria is a common malformation of cortical development characterized by an excessive number of small gyri and abnormal cortical lamination. Multiple syndromes of region-specific bilateral symmetric polymicrogyria have been reported. We previously have described two families with bilateral frontoparietal polymicrogyria (BFPP), an autosomal recessive syndrome that we mapped to a locus on chromosome 16q12-21. Here, we extend our observations to include 19 patients from 10 kindreds, all linked to the chromosome 16q locus, allowing us to define the clinical and radiological features of BFPP in detail. The syndrome is characterized by global developmental delay of at least moderate severity, seizures, dysconjugate gaze, and bilateral pyramidal and cerebellar signs. Magnetic resonance imaging demonstrated symmetric polymicrogyria affecting the frontoparietal regions most severely, as well as ventriculomegaly, bilateral white matter signal changes, and small brainstem and cerebellar structures. We have refined our genetic mapping and describe two apparent founder haplotypes, one of which is present in two families with BFPP and associated microcephaly. Because 11 of our patients initially were classified as having other malformations, the syndrome of BFPP appears to be more common than previously recognized and may be frequently misdiagnosed.     

A variant of WEBINO syndrome after top of the basilar artery stroke

Wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) is an uncommon neuro-ophthalmologic syndrome consisting of both eyes primary position exotropia and bilateral internuclear ophthalmoplegia. It is thought to be caused by medial midbrain lesions involving both bilateral medial longitudinal fasciculi and medial rectus subnuclei. We report the clinical and neuroimaging findings of a WEBINO syndrome associated to bilateral ptosis, non-reactive mydriasis and complete vertical gaze palsy in a 55-year-old man who suffered a top of the basilar artery stroke causing tegmental midbrain infarction.     

Bilateral periventricular nodular heterotopia with amniotic band syndrome

The amniotic (constriction) band syndrome is characterized by distal ring constrictions, intrauterine amputations, and acrosyndactyly. External constriction by amniotic bands is the generally accepted mechanism: early amniotic rupture leads to formation of mesodermal fibrous strands that constrict, entangle, and amputate distal portions of limbs. Etiology is heterogeneous. Anecdotal cases involving central nervous system abnormalities (e.g., acrania, anencephaly, polymicrogyria, congenital bilateral perisylvian syndrome, neuronal heterotopia, septo-optic dysplasia, and spinal cord tethering) have been reported. We describe a 9-year-old girl with typical features of constriction band syndrome localized to the lower limbs who had also profound mental retardation and drug-resistant epilepsy associated with bilateral periventricular nodular heterotopia (a brain malformation of neuronal migration and proliferation caused by mutations in the X-linked filamin 1 gene [FLN1] on chromosome Xq28). The karyotype was normal, as was mutational screening for FLN1. The occurrence of bilateral periventricular nodular heterotopia in the context of amniotic band syndrome is novel (chance occurrence of both: 0.000004%).     

Syndrome of septo-optic-pituitary dysplasia: the clinical spectrum

Septo-optic-pituitary dysplasia is a syndrome characterized by abnormalities of midline brain structures, optic nerve hypoplasia, and congenital hypothalamic-pituitary insufficiency. Four infants, diagnosed as having clinical variations of this disorder, are described. The first had agenesis of the septum pellucidum and corpus callosum, partial hypothalamic insufficiency, and normal optic nerves. The second had a structurally normal brain, bilateral optic nerve hypoplasia, and panhypopituitarism. The third had bilateral agenesis of the cerebral cortex, bilateral optic nerve hypoplasia and partial hypothalamic insufficiency. The fourth had a structurally normal brain, unilateral optic nerve hypoplasia and panhypopituitarism. A review of the recent literature revealed 191 patients with bilateral optic nerve hypoplasia who were examined for possible existence of this syndrome. Of the 178 patients who had radiographic imaging of the brain, 60% were found to have structural abnormalities. Of the 145 patients evaluated for pituitary function, 62% had evidence of insufficiency. Approximately 30% of fully evaluated patients had evidence of all three components of the syndrome. Because of high incidence of structural abnormalities of the brain and congenital hypopituitarism in patients with optic nerve hypoplasia, we conclude that full evaluation is indicated in patients with any of the three components of the syndrome.     

Acute bilateral opercular strokes causing loss of emotional facial movements

The classic anterior opercular syndrome of Foix-Chavany-Marie presents with loss of voluntary facial, pharyngeal, lingual, and mastication movements, with preservation of emotional and automatic movements. Most commonly, sequential strokes affecting bilateral opercula cause this syndrome. The inverse clinical presentation, with selective loss of emotional facial movements, has only rarely been reported, and is less well-localized. CASE REPORT: We report a case of selective loss of emotional facial movements which resulted from bilateral acute infarcts. No etiology was discovered, and the syndrome was reversible. DISCUSSION: The available literature, and findings in this case, suggest that voluntary and automatic facial movements have distinct pathways, and damage to the insula bilaterally may lead to the selective loss of emotional facial movements. The clinical presentation of this inverse automatic/voluntary dissocation needs to be recognized as a rare syndrome with bilateral localization, so that patients at higher risk of further stroke can quickly be identified.     

Catastrophic antiphospholipid antibody syndrome manifesting as an orbital ischemic syndrome.

Painful bilateral ophthalmoparesis, marked proptosis, increased intraocular pressure, and blindness developed in a 29-year-old woman with protein C deficiency and catastrophic antiphospholipid syndrome. Magnetic resonance imaging of the orbits showed bilateral proptosis, globe tenting, and tethering of the optic nerves consistent with an orbital ischemic syndrome. Despite aggressive therapy for antiphospholipid syndrome, the patient died. The autopsy showed necrosis of orbital tissues. This is the first report of orbital ischemic syndrome from protein C deficiency and antiphospholipid syndrome.     

MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings

We describe the clinical and neuropathological presentation of a male with an MECP2 mutation whose sister has Rett syndrome (RS). He presented with severe neonatal encephalopathy and died at the age of 13 months. Mutation analysis of the MECP2 gene demonstrated a 488 - 489 del mutation in his and his sister's copies of the gene. Post mortem examination revealed bilateral polymicrogyria in the perisylvian region. This malformation was visibly more severe than previously described in females with RS and another male with an MECP2 mutation. As bilateral polymicrogyria was described in congenital perisylvian syndrome, the presented patient could be regarded as having suffered from a severe form of this syndrome. We conclude that MECP2 screening should be considered in males with severe neonatal encephalopathy and in males and females with a bilateral polymicrogyria syndrome.     

A small pontine infarct on DWI as a lesion responsible for wall-eyed bilateral internuclear ophthalmoplegia syndrome

A 64-year-old man presented with alternating exotropia and bilateral medial longitudinal fasciculus (MLF) syndrome known as wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) syndrome. Diffusion-weighted imaging showed a small localized lesion in the median dorsal pons, and high-resolution T2-weighted imaging revealed slight left deviation of the lesion. A small penetrating artery was assumed to be occluded at the level of the MLF decussation. The median dorsal pons appears to be a location for the lesions causing WEBINO syndrome.     

Bilateral pallidal stimulation for idiopathic segmental axial dystonia advanced from Meige syndrome refractory to bilateral thalamotomy.

Meige syndrome is an adult-onset dystonic movement disorder that predominantly involves facial muscles, while some patients with this syndrome develop spasmodic dysphonia and dystonia of the neck, trunk, arms, and legs. We report that all dystonic symptoms that had been refractory to both pharmacotherapy and bilateral thalamotomy were markedly alleviated by bilateral pallidal stimulation in a patient with segmental axial dystonia advanced from Meige syndrome.     

Bilateral carpal tunnel syndrome associated to familial Mediterranean fever

A unique case of bilateral severe carpal tunnel syndrome due to familial Mediterranean fever is reported. The syndrome was diagnosed by clinical examination and electrophysiological studies. Bilateral transverse carpal ligaments were released and the biopsy specimens revealed systemic type A amyloidosis. Up to our knowledge, the co-existence of bilateral carpal tunnel syndrome and familial Mediterranean fever has not been reported previously in the literature.     

A case of neuralgic amyotrophy manifesting bilateral anterior interosseous nerve syndrome]

A 49-year-old woman acutely developed severe bilateral shoulder pain followed by weakness of the right shoulder girdle muscles. Within a few days, an inability to flex the terminal phalanges of the bilateral thumbs and index fingers emerged. Neurologic examination 1 month after the onset of symptoms showed atrophy of the right shoulder girdle muscles and mild decreased cutaneous sensation in the distribution of the right axillary nerve. Needle electromyography examination at this time showed fibrillation potentials in the right deltoid and bilateral flexor pollicus longus muscles. Recruitment of the right deltoid, supra- and infraspinatus muscles was reduced. Motor unit potentials in these muscles were of normal configuration. Nerve conduction studies in the upper limb were normal. She was diagnosed as neuralgic amyotrophy with bilateral anterior interosseous nerve syndrome. 4 months later, the muscles innervated by the bilateral anterior interosseous nerve improved in the muscle strength. Clinical features of this case were compatible with a mononeuropathy multiplex form of neuralgic amyotrophy associated with an autoimmune etiology. We think this case is important for speculating the pathogenesis of neuralgic amyotrophy. This case reminds us that patients with neuralgic amyotrophy sometimes demonstrate anterior interosseous nerve syndrome and most patients manifesting anterior interosseous nerve syndrome are patients with neuralgic amyotrophy.