We present an investigation of facial expression recognition by three people (BC, LP, and NC) with Mobius syndrome, a congenital disorder producing facial paralysis. The participants were asked to identify the emotion displayed in 10 examples of facial expressions associated with each of 6 basic emotions from the Ekman and ...

We report a 14-year-old girl with Alport's syndrome who developed bilateral exudative retinal detachment in the macula. With the development of chronic renal failure, bilateral serous retinal detachment appeared which had the retinal flecks characteristic of Alport's syndrome. The serous detachment was resolved and vision recovered following intensive hemodialysis. As ...

BACKGROUND AND PURPOSE: A number of anatomicoclinical syndromes have been described in which bilateral symmetrical polymicrogyria is the underlying morphologic abnormality. We retrospectively reviewed the clinical, epileptic, and morphologic manifestations of bilateral symmetrical polymicrogyria in 21 patients to determine whether certain areas are at particular risk for these syndromes. METHODS: ...

A 19-year-old woman with a recent history of recurrent bronchitis presented with a spontaneous left pneumothorax. Review of the chest radiographs revealed features of Macleod's syndrome on the same side, with unilateral lucency and hypoplastic hilar vessels. To our knowledge this is the first report of Macleod's syndrome presenting with ...

Heerfordt's syndrome is characterized by fever, uveitis, swelling of the parotid gland, and facial nerve palsy and represents a variety of neurosarcoidosis. Since the first description of the syndrome, discussion about the lesion site has been controversial and has included the assumption of direct nerve compression by parotid gland swelling ...

A 6-year-old girl underwent allogeneic BMT from a matched sibling donor for the treatment of Kostmann syndrome. She suddenly became drowsy on day 30 after BMT, and lost consciousness 2 days later. Cranial CT scan showed symmetrical lesions suggesting bilateral necrosis in the basal ganglia. Clinical and laboratory investigations failed ...

The first detailed description of congenital facial paralysis was reported by Moebius in 1888. It is characterized by either unilateral or bilateral paralysis of the facial muscles and an associated abducens palsy. The present report is of two patients with Moebius syndrome, who were also diagnosed with trismus at birth. ...

Spontaneous esophageal rupture (Boerhaave's Syndrome) is a life-threatening condition that requires early diagnosis and effective treatment. The authors describe a rare case of spontaneous rupture of the esophagus associated with pulmonary rupture in a 54-year-old man. The anatomical basis for the occurrence of a spontaneous esophageal rupture associated with pulmonary ...

We present a case of bilateral cheiro-oral syndrome with paresthesia in the right toes following pontine infarction. The causative lesions were situated in the bilateral paramedian pontine tegmentum (PPM). As the lesion on the left side was larger than that on the right, the foot area in the left medial ...

We describe a 24-year-old woman with many of the classical features of the Proteus syndrome. In childhood she had undergone bilateral forefoot amputations because of massive bilateral cerebriform hypertrophy of the feet. Other features include abnormally large fingers on one hand, a lymphangioma circumscriptum, an epidermal naevus, prominent venous varicosities ...

We describe a patient with bilateral extreme microphthalmia with bilateral congenital glaucoma, bilateral medial oblique facial cleft ending in lid colobomas, bilateral stenosis of the choanae, bifid uvula, frontal encephalocele, and premature craniosynostosis. The cause is unknown, but the phenotype resembles the Fryns anophthalmia-plus syndrome, which may be a recessive ...

Locked-in syndrome due to midbrain infarct is very rare. This report describes a patient with locked-in syndrome whose magnetic resonance images showed bilateral infarcts in the cerebral peduncle. Cerebral angiography disclosed bilateral irregular thrombotic narrowing of the vertebral and proximal basilar arteries with rostral basilar artery occlusion, a previously unreported ...

A 39-year-old man complained of unilateral headache, diplopia and marked anterior neck oppression "like a necklace". MRA was used to study this case of subsequent bilateral internal artery dissection (ICAD) which initially appeared as Raeder's syndrome. MRA proved to be a non-invasive alternative for studying stenosis, occlusions and dissections of ...

We report a two and a half year old male child with dystrophy of all the nails, absent patellae and iliac horns. In addition he had dysmorphic facial features, sparing of lunula and bilateral hallux valgus deformity, hitherto not reported earlier.

In this article, the crossed syndromes of Millard-Gubler (facial palsy and contralateral hemiparesis), Foville (facial palsy, conjugate gaze paralysis, and contralateral hemiparesis), Weber (oculomotor palsy and contralateral hemiparesis), and Raymond-Cestan (internuclear ophthalmoplegia and contralateral hemiparesis) are detailed from the original reports. These and other related syndromes were instrumental in establishing ...

Typical bilateral cheiro-oral syndrome was encountered in a 74-year-old man who had bilateral subdural hematoma after a minor head injury. The delayed grave neurologic deficits occurred 1 month later without expansion of the hematoma. Removal of the lesions reversed both cheiro-oral syndrome and his late-onset neurological disabilities.

A 15-year-old boy developed bilateral Becker's naevus over scapular region without any associated abnormality.

The purpose of this study was to identify sites where striatopallidal lesions produce two distinct sensory-triggered hyperkinetic syndromes: (1) exaggerated forelimb treading alone to oral taste infusions and (2) sensorimotor exaggerated treading plus enhanced aversive reactions to taste infusions. The behavioral characteristics of these syndromes have been described previously (Berridge, ...

A 32-year-old woman with a 6-year history of urticaria, acute anterior uveitis and mesangial glomerulonephritis developed bilateral pleural effusion. A thorough laboratory workup during repeated attacks of concomitant urticaria and bilateral pleural effusion together with the histopathological finding of the skin biopsy revealed normocomplementemic leukocytoclastic vasculitis. Bilateral pleural effusion should ...

Effective treatment with pimozide of a male patient with secondary de Clérambault's syndrome (DCS) and schizophrenia is reported. There was no evidence of relapse at 24-month follow-up. Pimozide is suggested to be the drug of choice in DCS and may be in other disorders in which symptoms of erotomania are ...

Shy-Drager syndrome consists of progressive autonomic nervous system failure with Parkinson's disease-like symptoms and orthostatic hypotension. It can also result in airway compromise from bilateral vocal cord paralysis. Fewer than 30 cases of severe bilateral vocal cord paresis or paralysis associated with the Shy-Drager syndrome have been reported in the ...

A patient with cluster type headaches demonstrated bilateral and alternating ocular sympathetic dysfunction during a spontaneous as well as a nitroglycerin-induced attack. Biochemical evaluation revealed postganglionic pupillary dysfunction on the symptomatic side and preganglionic pupillary dysfunction contralaterally. These findings defy a simple explanation regarding a central or peripheral origin of ...

Moebius syndrome is characterized by congenital paralysis, usually bilateral, of the lateral rectus muscles and the muscles of facial expression. Esotropia is common in these patients. Few reports exist of the surgical results after treatment of strabismus in such patients. We report the case of a 19-month-old white boy with ...

An 85-year-old man developed in the last 5 years three attacks on Ménière's syndrome associated with facial paralysis. The syndrome could be interpreted as a transient ischemic attack in the territory of the anterior inferior cerebellar artery. An alternative hypothesis could be to admit a Ménière's disease with compression of ...

The authors present two cases of bilateral subclavian steal syndrome, a rare condition that does not commonly cause neurovascular symptoms. Lateralizing hemispheric events occur usually with carotid lesions. Vertebral-basilar insufficiency is three times more common in bilateral than in unilateral subclavian steal syndrome. Arm-exercise-induced brain-stem dysfunction is rare, and is ...

This article remarks on the possibility of recontouring the face by working on the facial skeleton with the sole purpose of softening the facial appearance. The author describes a one-step surgical procedure performed on a 38-year-old man who had serious social problems because of his aggressive and threatening facial appearance ...

A patient had bilateral macular coloboma with aggregations of pigment clumps located perivascularly, predominantly paravenously, and in other parts of the retina. The Toxoplasma IgG antibody was negative. The diagnosis of bilateral macular coloboma with pigmented paravenous retinochoroidal atrophy was made and seemed to be a developmental abnormality in origin.

A 74-year-old man with an occult carcinoma of the colon developed pigmentation of the mouth and penis typical of the Peutz-Jeghers syndrome as the first manifestation of bilateral diffuse uveal melanocytic proliferation. The simultaneous appearance of extraocular pigmented lesion and those in the uveal tract of both eyes of this ...

A family with three generations of male-to-male transmission of a rare syndrome is presented. The syndrome includes bilateral cervical branchial sinuses, bilateral preauricular sinuses, bilateral malformed auricles and bilateral hearing impairment. Two important aspects of this syndrome are discussed. First, male-to-male transmission rules out a sex-linked mode of inheritance. Second, ...

The treatment of nonsyndromic and syndromic bilateral coronal synostosis has been outlined. Essential features of this individualized approach include technique modification in bone remodeling and fixation according to the age of the patient as well as additional emphasis on elongating the anterior cranial base or periorbital segment in patients with ...

Moebius syndrome (MS) is described in an infant with central hypoventilation and brainstem calcification. The patient had limb defects and bilateral paralysis of the 6th, 7th, 9th, 10th, and 12th cranial nerves. Mechanical ventilation was continued from birth because of shallow spontaneous respiration. Computed tomography revealed brainstem atrophy and four ...

A case is reported of a 5-month-old girl with Hallermann-Streiff syndrome who was evaluated for possible premature closure of the cranial sutures. Skull radiographs revealed numerous Wormian bones along sutures in the parietal skull bilaterally. Hallermann-Streiff syndrome is added to the list of diseases in which extensive Wormian bones can ...

This case report describes 99mTc(V)-dimercaptosuccinic acid (DMSA) accumulation in a pheochromocytoma in a patient with Sipple's syndrome. Scintigraphy with 99mTc(V)-DMSA demonstrated uptake in medullary carcinoma of the thyroid gland (MCT). Iodine-131 metaiodobenzylguanidine (MIBG) scintigraphy showed the bilateral pheochromocytomas but did not demonstrate uptake in the MCT.

In six patients with ocular Lyme borreliosis, bilateral granulomatous iridocyclitis and vitritis were present in five. One of these five also had bilateral optic neuritis. Another patient developed combined trochlear and facial nerve palsies. A syndrome resembling pars planitis with atypical features such as granulomatous keratic precipitates and posterior synechiae ...

The embryonic chick face is composed of a series of facial primordia, epithelium-covered buds of mesenchyme, which surround the presumptive mouth. The protruding adult upper beak containing the prenasal cartilage is formed from the frontonasal mass, the paired maxillary primordia form the sides of the face, while the lower beak ...

Recurrent facial paralysis (RFP) is a rare disorder that in some individuals may lead to worsening sequelae. Melkersson-Rosenthal syndrome is a variant of RFP that is associated with recurrent facial edema. In the past, decompression of the mastoid segment of the facial nerve has not been successful in preventing recurrences. ...

A manic-like state occurred in a 44-year-old right-handed woman with bilateral orbitofrontal and right temporoparietal traumatic contusions. In a brief trial, we assessed the effect of clonidine, carbamazepine, dopa therapy, and placebo on manic symptoms and cognitive functions. Clonidine rapidly reversed the manic syndrome. The patient's behavior did not change ...

A patient with Balint's syndrome caused by bilateral parieto-occipital lesions lost spontaneous blinking, suggesting that humans, like nonhuman primates, have parietal lobe neurons that are important for blinking. Although the functions of spontaneous blinking are not known, they may help initiate some saccades and, like saccades, be involved in the ...

Recent sonographic studies have demonstrated enlarged choroid plexuses to be an abnormality associated with myelomeningocele. We report a patient with hydrocephalus and myelomeningocele who had huge bilateral enlargement of the choroid plexuses which were large enough to occlude the foramen of Monro of the shunted and collapsed ventricle. It produced ...

Two young adults, aged 24 and 31, had a long history of small, poorly reactive pupils. There was no history of large pupils, and a review of old photographs confirmed 10 and 5 years, respectively, of miosis. Both were found to have bilateral tonic pupils that were supersensitive to diluted ...

Foix-Chavany-Marie syndrome (FCMS), or faciopharyngoglossomasticatory diplegia, is an uncommon syndrome that can result from vascular or developmental lesions of the anterior opercula bilaterally. We report the first pathological documentation of the developmental form of this disorder. Pathological examination revealed bilateral failure of opercular closure, opercular polymicrogyria, periventricular gray-matter heterotopias, and ...

Testicular tissues of 22 buffalo bulls (Bubalus bubalis) which suffered from three types of infertility were examined histologically. Nine bulls with no sexual libido showed underdeveloped seminiferous tubules; five of them also had various forms of germinal tissue hypoplasia (bilaterally complete, partial or incomplete) and in the other four the ...

Bilateral anterior opercular syndrome is clinically characterized by facio-pharyngo-glossomasticatory diplegia due to bilateral opercular lesions. Reported cases of the syndrome have been relatively rare probably because of difficulty in determining opercular damage on clinical symptoms alone. We report a case of this syndrome in whom bilateral opercular damage could be ...

A patient with a permanent tracheostomy was seen and noted to have bilateral abductor vocal cord paralysis. He was being investigated neurologically and was found to have several types of autonomic failure, specifically including postural hypotension. It was felt that he had Shy-Drager syndrome. A review of the literature showed ...

Divergence paralysis is a clinical syndrome that is characterized by esotropia and diplopia at distance fixation and fusion at near fixation. This syndrome is thought to result from a lesion in the brain stem, probably in the midbrain or in the pontine region. This paper reports a case in which ...

Recurrent facial paralysis is an infrequent problem for the otolaryngologist. This paralysis may be associated with the Melkersson-Rosenthal syndrome, a triad of recurrent facial paralysis, relapsing facial edema, and associated fissured tongue. Most patients do not have the accompanying stigmata of this syndrome. This paralysis may occur unilaterally or bilaterally. ...

A 27 year old woman with mitral valve prolapse presented with somnolence, bilateral Babinski signs, and grasp reflexes. As somnolence cleared, vertical gaze palsy and Korsakoffian memory deficit were apparent. Initial CT scan was normal, but NMR scan 24 hours after the onset of symptoms revealed prolonged T2 relaxation in ...

A patient who had selective paralysis of downward gaze caused by bilateral lesions of the dorsolateral mesencephalic periaqueductal gray (PAG) matter is reported. Her necropsy findings differed from all previous reports of the syndrome, in that regions of the mesencephalon that have been considered as critical for executing downward gaze ...

We report on a father and son who have telecanthus, hypertelorism, strabismus, and pes cavus. In addition, the son has hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of fingers bilaterally, a small tissue mass on the tip of his nose, and radiographic findings including flared metaphyses of long bones and ...

A patient with a classical locked-in syndrome is described, in whom bilateral ptosis was observed on the 2nd day. On the 4th day, ophthalmoplegia was complete with the exception of a voluntary downward movement of the right eye. The syndrome can be explained by the association of bilateral horizontal pontine ...