1/14. poland-Moebius syndrome: a case report.BACKGROUND: The primary site of pathology in Moebius syndrome is still unknown, although several studies have variably localized the lesion in the extraocular muscles, cranial nerves, or central nervous system. CASE: A 24-year-old man with poland-Moebius syndrome and acquired progressive bilateral paralytic lower eyelid ectropion is described. OBSERVATIONS: In this patient, magnetic resonance imaging studies revealed a barely detectable pontine hypoplasia and normal recti muscles. Nerve conduction studies of the facial nerves showed a severe demyelinating or dysmyelinating type of neuropathy. Bilateral lower eyelid ectropium of the patient was successfully corrected by canthal tightening procedures. CONCLUSION: Contrary to many reported cases, this patient serves as a rare example of a progressive type of poland-Moebius syndrome presumably resulting from a combination of a brainstem abnormality and a peripheral neural degenerative process.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
2/14. Ophthalmic manifestations of neonatal onset multisystem inflammatory disease.PURPOSE: To report the ophthalmic manifestations of neonatal onset multisystem inflammatory disease, a recently recognized, rare systemic disorder characterized by the triad of arthropathy, rash, and abnormal central nervous system development. METHOD: Case report. RESULTS: A 2-year-old female with neonatal onset multisystem inflammatory disease presented with visual acuity of fix and follow with each eye, bilateral optic nerve head pallor and gliosis, as well as marked sheathing of the peripapillary vessels. No vitreous inflammation or macular edema was found. visual acuity was stable from the neonatal period through the 3 months of follow-up after the changes involving the optic nerve heads and peripapillary vessels were observed (a total of 33 months). CONCLUSIONS: This report provides a description of the ocular manifestations of neonatal onset multisystem inflammatory disease and supports earlier suggestions that swelling of the optic nerve heads can occur. In this case, optic nerve head pallor may have been a sequela of such swelling. The pathogenesis of neonatal onset multisystem inflammatory disease is unknown.- - - - - - - - - - ranking = 2keywords = nerve (Clic here for more details about this article) |
3/14. Electrophysiological study of forearm sensory fiber crossover in Martin-Gruber anastomosis.Although anatomical studies have shown that a crossover of sensory fibers is not rare in forearm Martin-Gruber median-ulnar anastomosis (MGA), it has been electrophysiologically described only in rare subjects. Using a near-nerve needle technique, the possibility of electrophysiologically detecting a forearm median-ulnar crossover of sensory fibers was investigated in 24 arms of 21 subjects with unilateral or bilateral MGA, by stimulating the fifth digit of the hand and recording along the median nerve. Small-amplitude elbow responses were found in the median nerve in 10 of the 24 arms but, in 9, the responses disappeared after lidocaine block of the ulnar nerve distal to the elbow sulcus, indicating their volume-conducted origin. In one subject with carpal tunnel syndrome and a subclinical ulnar neuropathy at the elbow, the elbow response was not affected by the ulnar block, thus confirming the presence of a sensory anastomosis in the forearm. In another subject with MGA, a clear-cut sensory response was recorded in the median nerve at the elbow by stimulating the fifth digit of the right hand but no anesthetic block was performed, because ulnar responses were absent above the elbow sulcus due to a severe lesion at the elbow. Thus, use of a near-nerve recording technique facilitates recognition of median-ulnar crossover of sensory fibers to the fifth digit, which is, however, uncommon.- - - - - - - - - - ranking = 3keywords = nerve (Clic here for more details about this article) |
4/14. autopsy case of thanatophoric dysplasia: observations on the serial sections of the brain.The neuropathological findings in an autopsy case of thanatophoric dysplasia (TD) with serial sections of the brain are described here. This patient was a female infant, born at 33 weeks gestation, who died on day 1. Skeletal anomalies, consisting of short limbs, a small thorax, short ribs, thick cortical vertebral body substance and sternum substance, and hypoplastic lungs, were compatible with typical phenotypic features of TD. The brain weighed 370 g, showing a cloverleaf megalencephaly. A computerized 3-D reconstruction technique visualized clearly abnormal deep sulci arranged perpendicular to the neuraxis on the inferior surface of the temporal lobe, and peculiar configurational changes of the lateral ventricle. In particular, the inferior horn showed an unusual complex form. Dysgenetic changes were largely located in the anterior temporal lobe as follows: cortical polymicrogyria; leptomeningeal heterotopia with discontinuity of the subpial basement membrane; serpentine arrangement of pyramidal cells of the cornu ammonis (CA)1 of the hippocampus; hypoplastic dentate gyrus; hyperplasia of the amygdaloid body; and heterotopic nodules of neuroblasts or glioblasts in the periventricular white matter. Apart from the temporal lobe, the cerebral pia mater showed unusual fusion of two facing sheets in a sulcus and ectopia of nerve cells, and the cerebellar vermis was small. The findings observed here indicate that overgrowth and lack of growth can coexist in the TD brain, suggesting that some interaction(s) between the mesenchyme and the nervous tissue may play a role in normal differentiation of these two cell lines.- - - - - - - - - - ranking = 0.5keywords = nerve (Clic here for more details about this article) |
5/14. septo-optic dysplasia with olfactory tract and bulb hypoplasia.optic nerve hypoplasia can be associated with other central nervous system malformations. When associated with absence of the septum pellucidum or thinning of the corpus callosum, it is termed septo-optic dysplasia. Considered to be a first trimester event, the embryologic timing and etiology of this syndrome still is not clearly defined. This report represents the first documented case of septo-optic dysplasia with associated hypoplasia of the olfactory tract. optic nerve hypoplasia is attributed to an abnormal developmental process during gestation. Generally accepted to be due to a first trimester insult, the timing of this abnormality has been debated given its association with other central nervous system abnormalities. These central nervous system abnormalities often include cerebral hemispheric and hypothalmic-pituitary axis abnormalities. Specifically, the presence of optic nerve hypoplasia with absence of the septum pellucidum and thinning of the corpus callosum has been termed septo-optic dysplasia or de Morsier's syndrome. septo-optic dysplasia in association with olfactory tract and bulb hypoplasia has not been reported previously.- - - - - - - - - - ranking = 1.5keywords = nerve (Clic here for more details about this article) |
6/14. Anomalous superficial radial nerve: a patient with probable autosomal dominant inheritance of the anomaly.The sensory symptoms due to lesions of the superficial branch of the radial nerve are usually limited to the dorsolateral area of the hand. We describe a 40-year-old woman who presented with numbness of the dorsomedial aspect of the right hand following arthroplasty of the wrist. Clinically, the sensory loss suggested a lesion of the dorsal branch of the ulnar nerve. However, nerve conduction studies showed that the sensory loss was due to a lesion of a branch of the superficial branch of the radial nerve. The patient had bilateral, anomalous innervation of the dorsum of the hand-the dorsal branch of the ulnar nerve could not be demonstrated with nerve conduction techniques and the superficial branch of the radial nerve innervated most of the dorsum of the hand. Antidromic stimulation of the dorsal branch of the ulnar nerve and superficial branch of the radial nerve with paired surface recording of sensory nerve action potentials from the dorsolateral (radial side) and dorsomedial (ulnar side) hand is useful for evaluating this anomaly. Our patient had two children, one of them with a similar anomaly. This suggests an autosomal dominant inheritance of the anomaly.- - - - - - - - - - ranking = 7keywords = nerve (Clic here for more details about this article) |
7/14. Congenital fibrosis syndrome associated with central nervous system abnormalities.BACKGROUND: Congenital fibrosis of extraocular muscles (CFEOM) is a complex strabismus syndrome that typically occurs in isolation and results from dysfunction of all or part of cranial nerves III (CNIII) and IV (CNIV) and/or the muscles that these nerves innervate. Only a few patients with CFEOM and additional central nervous system malformations have been reported. We describe four additional patients with CFEOM associated with central nervous system (CNS) abnormalities. methods: Four patients who presented with congenital restriction of eye movements in association with neurological abnormalities underwent complete ophthalmological examination including electroretinography (ERG) and eye movement recordings. Neurological examinations, neuroradiological studies, muscle histology, chromosomal and genetic linkage analysis were performed. RESULTS: Clinical examination and forced duction testing confirmed that all four patients met criteria for CFEOM; all had congenital restrictive ophthalmoplegia primarily affecting extraocular muscles innervated by the oculomotor nerve. Two brothers had CFEOM and Marcus Gunn jaw winking. In each of the four cases, CFEOM occurred in association with one or several neuroradiological findings, including agenesis of the corpus callosum, colpocephaly, hypoplasia of the cerebellar vermis, expansion of the ventricular system, pachygyria, encephalocele and/or hydrancephaly. CONCLUSIONS: We present four cases of CFEOM in association with CNS malformations that confirm that CFEOM can be part of a more complex neurological dysfunction and provide further support to a neurogenic aetiology for this disorder. We also describe for the first time the coexistence of CFEOM and Marcus Gunn jaw winking in two siblings. This suggests a genetic mechanism. Aberrant innervation supports primary developmental abnormality of cranial nerves in CFEOM.- - - - - - - - - - ranking = 2keywords = nerve (Clic here for more details about this article) |
8/14. prenatal diagnosis of 'true tail' with cartilage content?A human tail is a rare congenital anomaly with a prominent lesion from the lumbosacrococcygeal region. According to Dao and Netzky human tails are classified into 'true tails' and 'pseudotails'. True tails comprise only mesenchymal tissue (adipose, connective, muscle, nerve tissue, blood vessels, and cutis). They are presumed to be remnants of the embryologic tail. All other lumbosacrococcygeal protrusions are summarized as pseudotails. Superficially they may resemble true tails. They contain normal or abnormal tissue, e.g. cartilage, lipoma and glioma. We report a case of prenatal diagnosis of a human tail in association with omphalocele, hydrocephalus and antiphospholipid-antibody syndrome resulting in a severe fetal growth restriction. Due to cartilage content the appendage had to be classified as 'pseudotail'. However, anatomical position and the decrease of length observed by consecutive ultrasound examinations at 14 and 21 weeks of gestation was suggestive of delayed regression of a 'true tail'. Furthermore, the association of antiphospholipid-antibody syndrome with congenital malformations is discussed.- - - - - - - - - - ranking = 0.5keywords = nerve (Clic here for more details about this article) |
9/14. Aberrant corneal nerve regeneration after PRK.PURPOSE: To report a case of aberrant corneal nerve regeneration after myopic photorefractive keratectomy (PRK). methods: One patient underwent bilateral PRK to correct a refractive error of -5.50 D in each eye. Thirteen months after the original PRK, the left eye underwent an uncomplicated PRK reoperation to correct a regression of -1.00 D. The central corneas were examined by confocal microscopy preoperatively in both eyes, at 1 and 2 years after the original PRK in the right eye, and before and 1 and 2 years after the PRK reoperation in the left eye. RESULTS: Aberrant anterior stromal nerves with a coiled course and irregular branching pattern were identified 22 micro m deep to the most anterior keratocyte layer at 1 year after the PRK reoperation in the left eye and remained unchanged 2 years after reoperation. No abnormal stromal nerves were identified in the left eye before the reoperation or at any time in the right eye. CONCLUSION: Aberrant regeneration of corneal stromal nerves may occur after myopic PRK reoperation.- - - - - - - - - - ranking = 4keywords = nerve (Clic here for more details about this article) |
10/14. Apparent conduction block in patients with ulnar neuropathy at the elbow and proximal Martin-Gruber anastomosis.A Martin-Gruber anastomosis (MGA) commonly results in an abnormal decline in amplitude across the forearm segment when ulnar motor nerve conduction studies are performed. A recent report described a proximal MGA resembling partial conduction block in a patient with ulnar neuropathy at the elbow (UNE). As a result, we screened patients with similar findings. We detected a proximal MGA in three patients over a period of 2 years, which suggests that this may be an under-recognized anomaly. We conclude that a proximal MGA must be excluded in all cases of UNE showing apparent partial conduction block across the elbow segment.- - - - - - - - - - ranking = 0.5keywords = nerve (Clic here for more details about this article) |
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