1/52. Oral self-mutilation in a patient with rhombencephalosynapsys.Rhombencephalosynapsis (RS) is a rare cerebellar malformation. Its essential features are the absence of the incisura cerebelli posterior, fusion of the cerebellar hemispheres, the absence of the velum medullare anterius and nuclei fastigii, and fusion of the dentate nuclei, which are shifted towards the mid-line. Clinically, affected patients present with signs of cerebellar and motor disturbances. The present report describes a new patient affected by RS. The subject first presented at the age of 22 years because of a psychiatric symptomatology which was characterized by obsessive oral self-mutilation associated with an intellectual disability. Objective evaluation documented dysmorphic features, while neurological examination showed only a slight truncal ataxia. The subject's IQ was 74 on the Wechsler Scale (verbal IQ = 79, performance IQ = 74). Psychiatric evaluation with DSM-IV criteria documented an obsessive-compulsive personality disorder associated with emotional instability and oral self-mutilation. The typical picture of rhombencephalosynapsis was evident on magnetic resonance imaging. Both chromosomal analysis and routine biochemical investigations were normal. The relationship between oral self-injurious behaviour and cerebellar malformations is discussed with particular regard to the behavioural aspects of cerebellar congenital pathology in affective disorders and in autism.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
2/52. Therapeutic effectiveness of acetazolamide in hindbrain hernia headache.A 43-year-old man had been suffering from exertional headache for 10 years. Sagittal sections on magnetic resonance imaging showed a Chiari type 1 malformation and a cerebellar arachnoid cyst. This syndrome, named hindbrain hernia headache, disappeared with oral acetazolamide. This treatment should be tried in patients with hindbrain hernia headache prior to considering surgical decompression of the foramen magnum.- - - - - - - - - - ranking = 0.5keywords = malformation (Clic here for more details about this article) |
3/52. Acute cerebellar hemorrhage in a patient with klinefelter syndrome: XXY karyotype obtained postmortem from cells from pericardial fluid.A case of klinefelter syndrome and a spontaneous cerebellar hemorrhage in a 12-year-old boy is presented. autopsy revealed that the hemorrhage was due to the rupture of a dilated artery in an arteriovenous malformation in the right cerebellar hemisphere. The small, undescended testes exhibited partial atrophy of the seminiferous tubules. Postmortem chromosome analysis of cells from the pericardial fluid demonstrated a 47, XXY karyotype. He had previous surgical treatment for bilateral thumb polydactyly and patent ductus arteriosus. In juvenile cases of sudden death with overlapping morphological dysgenesis, postmortem karyotyping may provide important diagnostic information.- - - - - - - - - - ranking = 3.9903336971152keywords = arteriovenous malformation, malformation (Clic here for more details about this article) |
4/52. Anterior horn cell disease and olivopontocerebellar hypoplasia.To date, fewer than 30 cases of anterior horn cell disease with associated olivopontocerebellar hypoplasia have been reported. We describe five patients and review the literature on this uncommon disorder. In addition to a syndrome of progressive spinal muscular atrophy similar to that seen in Werdnig-Hoffmann disease, this disorder is characterised by hypoplasia of the olivary nuclei, pons, and cerebellum. Additional clinical features may include dysmorphism, abnormal eye movements, stridor, congenital joint contractures, and enlarged kidneys. Pontocerebellar hypoplasia may be associated with posterior fossa cystic malformations, cerebral atrophy, and a demyelinating neuropathy.- - - - - - - - - - ranking = 0.5keywords = malformation (Clic here for more details about this article) |
5/52. Positional down beating nystagmus in 50 patients: cerebellar disorders and possible anterior semicircular canalithiasis.OBJECTIVES: To clarify the clinical significance of positional down beat nystagmus (pDBN). methods: A discussion of the neuro-otological findings in 50 consecutive patients with pDBN. RESULTS: In 38 patients there was evidence of CNS disease (central group) but in 12 there was not (idiopathic group). In the CNS group, presenting symptoms were gait, speech, and autonomic dysfunction whereas in the idiopathic group patients mostly reported positional vertigo. The main neurological and oculomotor signs in the CNS group were explained by cerebellar dysfunction, including 13 patients with multiple system atrophy. In patients with multiple system atrophy with a prominent extrapyramidal component, the presence of pDBN was helpful in the differential diagnosis of atypical parkinsonism. No patient with pDBN had the arnold-chiari malformation, a common cause of constant down beat nystagmus (DBN). In the idiopathic group, the pDBN had characteristics which suggested a peripheral labyrinthine disorder: vertigo, adaptation, and habituation. In six patients an additional torsional component was found (concurrently with the pDBN in three). Features unusual for peripheral disorder were: bilateral positive Dix-Hallpike manoeuvre in nine of 12 patients and selective provocation by the straight head-hanging manoeuvre in two. CONCLUSION: It is argued that some patients with idiopathic pDBN have benign paroxysmal positional vertigo (BPPV) with lithiasis of the anterior canal. The torsional component may be weak, because of the predominantly sagittal orientation of the anterior canal, and may not be readily seen clinically. Nystagmus provocation by bilateral Dix-Hallpike and straight head-hanging may be explained by the vertical upwards orientation of the ampullary segment of the anterior canal in the normal upright head position. Such orientation makes right-left specificity with the Dix-Hallpike manoeuvre less important than for posterior canal BPPV. This orientation requires a further downwards movement of the head, often achieved with the straight head-hanging position, to provoke migration of the canaliths. The straight head-hanging manoeuvre should be carried out in all patients with a history of positional vertigo and a negative Dix-Hallpike manoeuvre.- - - - - - - - - - ranking = 0.5keywords = malformation (Clic here for more details about this article) |
6/52. Cerebellar abscesses secondary to occipital dermoid cyst with dermal sinus: case report.BACKGROUND: hydrocephalus and cerebellar abscesses as the principal manifestations of posterior fossa dermoid cyst are rare. In addition, extradural dermoid cyst of the posterior fossa has been described in only 9 cases in the literature. We present an unusual case of obstructive hydrocephalus due to cerebellar abscesses induced by an adjacent extradural dermoid cyst with complete occipital dermal sinus. CASE DESCRIPTION: A 14-month-old child presented with acute raised intracranially pressure, seizures, and meningitis. Neuroradiological studies revealed cerebellar cysts with ring enhancement associated with a contiguous occipital cyst, with compression of the adjacent cisterns and the fourth ventricle causing hydrocephalus. The diagnosis of cerebellar abscesses with congenital occipital defect was briefly entertained. The patient was treated by radical excision of the occipital cyst with hair contents, the dermal sinus, and the abscesses through a suboccipital approach, followed by systemic antibiotic therapy with a good outcome. Pathologic examination revealed a dermoid cyst. CONCLUSION: Posterior fossa dermoid cyst should be considered in all children with occipital skin lesions, especially dermal sinus. CT scan and MRI are the methods of choice for further investigation of suspect congenital dermal lesions. Neurosurgical treatment of these malformations should be planned early to prevent the high incidence of infections such as bacterial meningitis and cerebellar abscess. Clinical presentation, diagnostic evaluation, and treatment of these rare lesions are reviewed.- - - - - - - - - - ranking = 0.5keywords = malformation (Clic here for more details about this article) |
7/52. Idiopathic scoliosis as a presenting sign of familial neurologic abnormalities.STUDY DESIGN: Familial cases of "idiopathic" scoliosis associated with neurologic abnormalities are reported with a review of the literature. OBJECTIVE: To investigate the prevalence of neurologic abnormalities such as syringomyelia, Chiari 1 malformation, and tonsillar ectopia in patients with genetically determined "idiopathic" scoliosis. SUMMARY OF BACKGROUND DATA: Idiopathic scoliosis is widely considered to be a genetic disorder of unknown etiology. magnetic resonance imaging (MRI) studies have shown that several cases of "idiopathic" scoliosis show neurologic abnormalities including syringomyelia and Chiari 1 malformation. Recently, several familial cases of either syringomyelia or Chiari malformation were reported, and it is suspected that genetic factors may influence the development of the craniovertebral malformation. It was hypothesized that some cases of "idiopathic" scoliosis include a craniovertebral malformation that is genetically determined. methods: This study, using clinical examinations and MRI, investigated 71 patients with scoliosis and a family history of "idiopathic" scoliosis in third-degree relatives for the presence of neurologic abnormalities. If neurologic abnormalities were confirmed with MRI, the relatives affected with scoliosis were also examined. RESULTS: Nine (13%) patients showed neurologic abnormalities on MRI. magnetic resonance imaging showed syringomyelia with Chiari 1 malformation in four patients, Chiari 1 malformation in three patients, and tonsillar ectopia in two patients. Among the relatives of these patients, 4 of 15 individuals affected with scoliosis also showed neurologic abnormalities on MRI. CONCLUSIONS: It is suggested that familial neurologic abnormalities may have a wide range of expression, and that some patients with "idiopathic" scoliosis present with genetically determined craniovertebral malformations such as syringomyelia, Chiari 1 malformation, and tonsillar ectopia.- - - - - - - - - - ranking = 4.5keywords = malformation (Clic here for more details about this article) |
8/52. A juvenile case of cerebellar arteriovenous malformation (AVM) with gradual onset of headache and ataxia.An 11-year-old male was admitted because of frequent vomiting and truncal ataxia which had lasted for over one week. He had clear consciousness but slowly-progressive mild headache and ataxic gait. Cranial CT revealed a 4 cm hematoma in the right cerebellar hemisphere. angiography showed a 2 x 2 cm nidus of a pial arteriovenous malformation (AVM) in the right hemisphere fed from the right posterior inferior cerebellar artery and draining into the inferior hemispheric vein. We performed a surgical resection of the AVM after decompression therapy to counteract the brain edema. He recovered completely without any neurological deficits. This case suggests that cerebellar hemorrhage caused by AVM should be considered as a possible diagnosis when mild symptoms of headache and ataxia proceed gradually.- - - - - - - - - - ranking = 19.951668485576keywords = arteriovenous malformation, malformation (Clic here for more details about this article) |
9/52. Fetal cerebellar hemorrhage in a severely growth-restricted fetus: natural history and differential diagnosis from Dandy-Walker malformation.This is a report of an intracerebellar hemorrhage in a severely growth-restricted fetus with pathological Doppler findings of the fetal and uteroplacental circulations. The diagnosis was made sonographically at 22 weeks of gestation and the natural course of the hemorrhage was followed. Interestingly, the final sonographic appearance of the posterior fossa was quite similar to that of the classic form of Dandy-Walker malformation: absence of the vermis and an enlarged fourth ventricle. However, careful sonographic examination showed that the enlargement of the fourth ventricle was actually caused by a porencephalic cystic lesion of the left cerebellar lobe. Pathological examination revealed complete absence of the vermis and cerebellar hypoplasia.- - - - - - - - - - ranking = 2.5keywords = malformation (Clic here for more details about this article) |
10/52. death from chronic tonsillar herniation in a patient with lumboperitoneal shunt and Crouzon's disease.A 2.5-year-old girl with Crouzon's disease, hydrocephalus, and a lumboperitoneal shunt died as a result of chronic tonsillar herniation (acquired Chiari 'malformation'). The possible synergistic role of the cranial dysmorphism and the lumboperitoneal shunt in the development of this anomaly is discussed. The literature is reviewed and it is argued that if hydrocephalus occurs in infants in whom cephalocranial disproportion is likely to develop, then it is inadvisable to insert a lumboperitoneal shunt.- - - - - - - - - - ranking = 0.5keywords = malformation (Clic here for more details about this article) |
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